MCID: RTN008
MIFTS: 75

Retinitis Pigmentosa malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Retinitis Pigmentosa

About this section
Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 32 10 21 45 23 47 12 51 65 36
Rp 10 45 23
Retinitis Pigmentosa Syndrome 22 24
Rod-Cone Dystrophy 45 23
Pericentral Pigmentary Retinopathy 10
Progressive Cone-Rod Dystrophy 65
Retinitis Pigmentosa Type 53 10
 
Retinitis Pigmentosa Type 59 10
Cone-Rod Retinal Dystrophy 23
Tapetoretinal Degeneration 23
Pigmentary Retinopathy 23
Retinitis Pigmentosa 1 65
Retinitis Pigmentosa-1 10
Rhyns Syndrome 65


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
retinitis pigmentosa:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000 (Europe),1-5/10000 (Worldwide),1-5/10000 (Denmark),1-5/10000 (Norway),1-5/10000 (United States),1-5/10000 (United Kingdom),1-5/10000 (China),1-5/10000 (Slovenia); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:10584
NCIt42 C85045
ICD9CM29 362.74
MeSH36 D012174
SNOMED-CT59 28835009, 155113002
Orphanet51 791
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 D012174
UMLS via Orphanet66 C0035334

Summaries for Retinitis Pigmentosa

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NIH Rare Diseases:45 Retinitis pigmentosa (rp) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). rp causes cells in the retina to breakdown and die, eventually resulting in vision loss. the first sign of rp is usually night blindness. as the condition progresses, affected individuals also develop tunnel vision. sometimes rp occurs by itself (isolated rp), and other times it occurs with additional signs and symptoms (syndromic rp). mutations in at least 50 genes have been found to cause rp. there is no cure for rp, however, there are a few treatment options to slow down the progression of the disease. these options include light avoidance, use of low-vision aids, and vitamin a supplementation. last updated: 10/14/2011

MalaCards based summary: Retinitis Pigmentosa, also known as rp, is related to retinitis pigmentosa 1 and refsum disease, and has symptoms including abnormality of the testis, conductive hearing impairment and sensorineural hearing impairment. An important gene associated with Retinitis Pigmentosa is ZNF513 (Zinc Finger Protein 513), and among its related pathways is Visual Cycle in Retinal Rods. Affiliated tissues include retina, eye and bone, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:10 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.

Genetics Home Reference:23 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

GeneReviews summary for rp-overview

Related Diseases for Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 59 Retinitis Pigmentosa 20
Retinitis Pigmentosa 19 Retinitis Pigmentosa 32
Retinitis Pigmentosa 18 Retinitis Pigmentosa 35
Retinitis Pigmentosa-12, Autosomal Recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 72
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 22 Retinitis Pigmentosa 45
Retinitis Pigmentosa 74 Retinitis Pigmentosa 13
Retinitis Pigmentosa 36 Retinitis Pigmentosa 17
Retinitis Pigmentosa 30 Retinitis Pigmentosa 57
Retinitis Pigmentosa 11 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 23 Retinitis Pigmentosa 3
Retinitis Pigmentosa 2 Retinitis Pigmentosa 24
Retinitis Pigmentosa 34 Abca4-Related Retinitis Pigmentosa
Aipl1-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Ca4-Related Retinitis Pigmentosa
Cerkl-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Crb1-Related Retinitis Pigmentosa Crx-Related Retinitis Pigmentosa
Dhdds-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Idh3b-Related Retinitis Pigmentosa
Impdh1-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Klhl7-Related Retinitis Pigmentosa Lrat-Related Retinitis Pigmentosa
Mak-Related Retinitis Pigmentosa Mertk-Related Retinitis Pigmentosa
Nr2e3-Related Retinitis Pigmentosa Nrl-Related Retinitis Pigmentosa
Pde6a-Related Retinitis Pigmentosa Pde6b-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prcd-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa Prpf3-Related Retinitis Pigmentosa
Prpf31-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Prpf8-Related Retinitis Pigmentosa Prph2-Related Retinitis Pigmentosa
Rbp3-Related Retinitis Pigmentosa Rdh12-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rom1-Related Retinitis Pigmentosa Rp1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Rp9-Related Retinitis Pigmentosa
Rpe65-Related Retinitis Pigmentosa Rpgr-Related Retinitis Pigmentosa
Sag-Related Retinitis Pigmentosa Sema4a-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Topors-Related Retinitis Pigmentosa Ttc8-Related Retinitis Pigmentosa
Tulp1-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Retinitis Pigmentosa Autosomal Recessive

Diseases related to Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 807)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa 132.1PRPH2, RHO, RP1
2refsum disease31.8CRB1, EYS, PDE6B, PRPH2, RHO, RP1
3macular degeneration, age-related, 131.6CRB1, NRL, PDE6B, PRPH2, RHO, RPE65
4retinal detachment31.4CRB1, IMPDH1, NRL, PDE6B, PRPH2, RHO
5fundus albipunctatus31.2PDE6B, PRPH2, RHO, RPE65
6chylomicron retention disease31.2CRB1, EYS, PDE6B, PRPH2, RHO, RP1
7leukemia31.1CRB1, IMPDH1, NRL, PDE6B, PRPH2, RHO
8cone-rod dystrophy x-linked 231.0RP1, RPGR
9retinitis11.6
10sacrococcygeal teratoma11.0CERKL, CRB1, EYS, IMPDH1, KLHL7, NRL
11retinal degeneration10.9
12retinitis pigmentosa autosomal recessive10.9
13cone-rod dystrophy10.9
14retinitis pigmentosa 210.9
15retinal disease10.9
16fundus dystrophy10.9
17hereditary retinal dystrophy10.9
18spiradenoma10.9
19eye degenerative disease10.9
20eye disease10.9
21inosine triphosphate pyrophosphohydrolase deficiency10.9CRB1, EYS, IMPDH1, NRL, PDE6B, PRPF3
22retinitis pigmentosa 310.8
23globe disease10.8
24naegeli-franceschetti-jadassohn syndrome10.8CERKL, CRB1, EYS, NRL, PDE6B, PRPH2
25retinal telangiectasia10.8CRB1, IMPDH1, NRL, PDE6B, PRPF8, PRPH2
26retroperitoneal cancer10.8CERKL, EYS, IMPDH1, KLHL7, PRPF3, PRPH2
27usher syndrome10.8
28cone-rod dystrophy 110.8
29newfoundland rod-cone dystrophy10.8
30ichthyosis, congenital, autosomal recessive 210.8CRB1, EYS, PDE6B, PRPH2, RHO, RP1
31proximal myopathy and ophthalmoplegia10.8CRB1, EYS, PDE6B, PRPH2, RHO, RP1
32ribbing disease10.7CRB1, EYS, PDE6B, PRPH2, RHO, RP1
33neuropathy ataxia retinitis pigmentosa syndrome10.7
34cone-rod dystrophy 310.7
35eye lymphoma10.7CRB1, EYS, IMPDH1, PDE6B, PRPH2, RHO
36retinitis pigmentosa 3010.7
37leber congenital amaurosis10.7
38neurilemmoma10.7CRB1, IMPDH1, PDE6B, PRPH2, RHO, RPE65
39retinitis pigmentosa 1010.7
40ataxia10.7
41ataxia, posterior column, with retinitis pigmentosa10.6
42retinitis pigmentosa 2510.6
43retinitis pigmentosa 7 and digenic10.6
44retinitis pigmentosa 910.6
45deficiency anemia10.6CRB1, PRPH2, RHO, RPE65, RPGR
46retinitis pigmentosa 2010.6
47retinitis pigmentosa 1310.6
48retinitis pigmentosa 6010.6
49choroideremia10.6
50cataract10.6

Graphical network of the top 20 diseases related to Retinitis Pigmentosa:



Diseases related to retinitis pigmentosa

Symptoms for Retinitis Pigmentosa

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Symptoms:

 51 (show all 29)
  • retinal vascular anomalies/retinal telangiectasia
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • photophobia
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • broad nasal root
  • anteverted nares/nostrils
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • abnormal scarring/cheloids/hypertrophic scars
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • glaucoma
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hyperinsulinism/hyperinsulinemia
  • generalized obesity
  • insulin-independent/type 2 diabetes
  • hypereflexia

HPO human phenotypes related to Retinitis Pigmentosa:

(show all 24)
id Description Frequency HPO Source Accession
1 abnormality of the testis hallmark (90%) HP:0000035
2 conductive hearing impairment hallmark (90%) HP:0000405
3 sensorineural hearing impairment hallmark (90%) HP:0000407
4 wide nasal bridge hallmark (90%) HP:0000431
5 anteverted nares hallmark (90%) HP:0000463
6 visual impairment hallmark (90%) HP:0000505
7 abnormal electroretinogram hallmark (90%) HP:0000512
8 photophobia hallmark (90%) HP:0000613
9 nystagmus hallmark (90%) HP:0000639
10 optic atrophy hallmark (90%) HP:0000648
11 nyctalopia hallmark (90%) HP:0000662
12 atypical scarring of skin hallmark (90%) HP:0000987
13 abnormality of retinal pigmentation hallmark (90%) HP:0007703
14 abnormality of the retinal vasculature hallmark (90%) HP:0008046
15 hypoplasia of penis hallmark (90%) HP:0008736
16 cognitive impairment hallmark (90%) HP:0100543
17 glaucoma typical (50%) HP:0000501
18 cataract typical (50%) HP:0000518
19 ophthalmoparesis typical (50%) HP:0000597
20 hyperinsulinemia typical (50%) HP:0000842
21 obesity typical (50%) HP:0001513
22 decreased corneal thickness typical (50%) HP:0100689
23 hyperreflexia occasional (7.5%) HP:0001347
24 type ii diabetes mellitus occasional (7.5%) HP:0005978

Drugs & Therapeutics for Retinitis Pigmentosa

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Drugs for Retinitis Pigmentosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sildenafilapproved, investigationalPhase 4296139755-83-25212
Synonyms:
1-((3-(4,7-Dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo(4,3-D)pyrimidin-5-yl)-4-ethoxyphenyl)sulfonyl)-4-methylpiperazine
1-((3-(4,7-Dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo(4,3-d)pyrimidin-5-yl)-4-ethoxyphenyl)sulfonyl)-4-methylpiperazine
1-((3-(6,7-dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo(4,3-d)pyrimidin-5-yl)-4-ethoxyphenyl)sulfonyl)-4-methylpiperazine citrate
139755-83-2
171599-83-0 (citrate)
1udt
1xos
2h42
5-(2-ethoxy-5-(4-methylpiperazin-1-ylsulfonyl)phenyl)-1-methyl-3-propyl-1H-pyrazolo[4,3-d]pyrimidin-7(6H)-one
5-[2-Ethoxy-5-(4-methyl-piperazine-1-sulfonyl)-phenyl]-1-methyl-3-propyl-1,6-dihydro-pyrazolo[4,3-d]pyrimidin-7-one (Sildenafil or Viagra)
5-[2-Ethoxy-5-(4-methyl-piperazine-1-sulfonyl)-phenyl]-1-methyl-3-propyl-1,6-dihydro-pyrazolo[4,3-d]pyrimidin-7-one(Sildenafil)
5-[2-ethoxy-5-(4-methylpiperazin-1-yl)sulfonylphenyl]-1-methyl-3-propyl-4H-pyrazolo[4,3-d]pyrimidin-7-one
5-{2-(ethyloxy)-5-[(4-methylpiperazin-1-yl)sulfonyl]phenyl}-1-methyl-3-propyl-1,6-dihydro-7H-pyrazolo[4,3-d]pyrimidin-7-one
5-{2-ethoxy-5-[(4-methylpiperazin-1-yl)sulfonyl]phenyl}-1-methyl-3-propyl-1,6-dihydro-7H-pyrazolo[4,3-d]pyrimidin-7-one
AC-938
AC1L1JUI
Ambap139755-83-2
Aphrodil
Aphrodil (TN)
BAS 04213629
BIDD:GT0352
BRD-K79759585-001-02-1
BSPBio_003424
C07259
C22H30N6O4S
CHEBI:9139
CHEMBL192
CID5212
Caverta
D08514
DB00203
DivK1c_006894
HMS1684K08
HMS1922B19
HMS2089M12
HMS2093O17
HSDB 7305
 
I06-0023
Jsp002373
KBio1_001838
KBio2_002035
KBio2_004603
KBio2_007171
KBio3_002927
KBioGR_001052
KBioSS_002035
LS-111655
MLS001240224
MLS001304737
MolPort-001-995-394
MolPort-002-885-861
NCGC00095099-01
NCGC00095099-02
NCGC00159496-02
Revatio
SMR000752512
SPBio_001775
SPECTRUM1504099
Sildenafil
Sildenafil (INN)
Sildenafil Citrate
Sildenafil Viagra
Sildenafil [INN:BAN]
Sildenafil citrate
SpecPlus_000798
Spectrum2_001648
Spectrum3_001892
Spectrum4_000586
Spectrum5_001508
Spectrum_001555
UK-92,480-10
UK-92480
UNII-3M7OB98Y7H
VIA
Viagra
sildenafil
2Phosphodiesterase 5 InhibitorsPhase 4518
3
Vitamin Eapproved, nutraceuticalPhase 335059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
4
Vitamin Aapproved, nutraceuticalPhase 3, Phase 138611103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
5
Luteinapproved, nutraceuticalPhase 3, Phase 1, Phase 269127-40-25368396, 6433159
Synonyms:
(3R,3'R)-beta,beta-Carotene-3,3'-Diol, Lutein
(3R,3'R,6'R)-Lutein
(3R,3'R,6S)-4,5-Didehydro-5,6-Dihydro-beta,beta-Carotene-3,3'-Diol
3,3'-Dihydroxy-alpha-carotene
4,5-Didehydro-5,6-dihydro-beta,beta-carotene-3,3'-diol
All-trans-(+)-Xanthophyll
All-trans-Lutein
All-trans-Xanthophyll
 
Bo-Xan
Lutein
Lutein ester
Luteine
Phylloxanthin
SID548587
Vegetable lutein
Vegetable luteol
beta,epsilon-Carotene-3,3'-diol
trans-Lutein
6TocopherolsPhase 3355
7Retinol palmitatePhase 3, Phase 1386
8vitamin dPhase 31463
9TocotrienolsPhase 3352
10CarotenoidsPhase 2, Phase 3, Phase 1111
11Isopropyl unoprostonePhase 32
12TocopherolNutraceuticalPhase 3355
13retinolNutraceuticalPhase 3, Phase 1386
14TocotrienolNutraceuticalPhase 3352
15Beta CaroteneNutraceuticalPhase 2, Phase 3, Phase 158
16
Ciprofloxacinapproved, investigationalPhase 2, Phase 120085721-33-12764
Synonyms:
1-CYCLOPROPYL-6-FLUORO-4-OXO-7-PIPERAZIN-1-YL-1,4-DIHYDROQUINOLINE-3-CARBOXYLIC ACID
1-CYCLOPROPYL-6-fluoro-4-oxo-7-piperazin-1-yl-1,4-dihydroquinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid
1-Cyclopropyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperzinyl)-3-quinolinecarboxylic acid HCl H2O
1-Cyclopropyl-6-fluoro-1,4-dihydro-7-(1-piperazinyl)-4-oxo-3-quinoline carboxylic acid
1-Cyclopropyl-6-fluoro-4-oxo-7-(1-piperazinyl)-1,4-dihydro-3-quinolinecarboxylic acid
1-Cyclopropyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-yl-1,4-dihydro-quinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-ylquinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-7-(4-methyl-piperazin-1-yl)-4-oxo-1,4-dihydro-quinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-7-hexahydro-1-pyrazinyl-4-oxo-1,4-dihydro-3-quinolinecarboxylic acid
1-cyclopropyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid
1-cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-ylquinoline-3-carboxylic acid
1-cyclopropyl-6-fluoro-7-hexahydro-1-pyrazinyl-4-oxo-1,4-dihydro-3-quinolinecarboxylic acid
17850_FLUKA
3-Quinolinecarboxylic acid,1,4-dihydro-1-cyclopropyl-6-fluoro-4-oxo-7-(1-piperazinyl)
33434_FLUKA
33434_RIEDEL
85721-33-1
AC-7613
AC1L1EEW
AKOS000269653
ARONIS020379
Alcon Cilox
BAS 06989041
BAY q 3939
BAY-Q-3939
BAYQ3939
BIDD:GT0205
BPBio1_000140
BRD-K04804440-311-02-3
BRN 3568352
BSPBio_000126
BSPBio_003344
Bacquinor
Baflox
Bay o 9867
Bay o 9867 (*Hydrochloride*)
Bay-09867
Baycip
Bernoflox
Bi-Cipro
Bio-0540
C05349
C17H18FN3O3
CAS-93107-08-5
CBMicro_048498
CCRIS 5241
CHEBI:100241
CHEMBL8
CID2764
CIPRO IN DEXTROSE 5% IN PLASTIC CONTAINER
CIPRO IN SODIUM CHLORIDE 0.9% IN PLASTIC CONTAINER
CPF
CPFX
CRL-1605 & Ciprofloxacin
Ciflox
Cifloxin
Cilab
Ciloxan
Ciloxan (*Hydrochloride*)
Ciplus
Ciprecu
Ciprinol
Cipro
Cipro (*Hydrochloride*)
Cipro (TN)
Cipro I.V.
Cipro IV
Cipro XL
Cipro XR
Ciprobay
Ciprobay Uro
Ciprocinol
Ciprodar
Ciproflox
Ciprofloxacin
Ciprofloxacin (JAN/USP/INN)
Ciprofloxacin Extended-Release
Ciprofloxacin HCl
Ciprofloxacin Hydrchloride
Ciprofloxacin Hydrochloride
Ciprofloxacin Otic
Ciprofloxacin [USAN:INN:BAN]
Ciprofloxacin dihydrochloride
Ciprofloxacin hydrochloride
Ciprofloxacin monohydrochloride
Ciprofloxacina
Ciprofloxacine
Ciprofloxacine [INN-French]
 
Ciprofloxacino
Ciprofloxacino [INN-Spanish]
Ciprofloxacinum
Ciprofloxacinum [INN-Latin]
Ciprogis
Ciprolin
Ciprolon
Cipromycin
Ciproquinol
Ciprowin
Ciproxan
Ciproxin
Ciproxina
Ciproxine
Ciriax
Citopcin
Cixan
Corsacin
Cycin
Cyprobay
D00186
DB00537
DivK1c_000095
Eni
Fimoflox
Flociprin
Floxin
HMS1922E18
HMS2090O07
HMS2093I03
HMS500E17
HSDB 6987
IDI1_000095
Ipiflox
Italnik
KBio1_000095
KBio2_000642
KBio2_003210
KBio2_005778
KBio3_002846
KBioGR_001567
KBioSS_000642
LS-141563
Liposomal-ciprofloxacin
Loxan
MLS001336035
MolPort-000-819-654
NCGC00016959-01
NCGC00095058-01
NCGC00095058-02
NCGC00178128-01
NINDS_000095
NSC620634
Ocuflox
Oprea1_008239
Oprea1_313572
Prestwick0_000113
Prestwick1_000113
Prestwick2_000113
Prestwick3_000113
Probiox
Proflaxin
Proflox
Proksi 250
Proksi 500
Proquin XR
Quinolid
Quintor
Rancif
Roxytal
SMP1_000125
SMR000471901
SPBio_001474
SPBio_002065
SPECTRUM1503614
STK021082
Septicide
Sophixin Ofteno
Spectrum2_001567
Spectrum3_001872
Spectrum4_000874
Spectrum5_001089
Spectrum_000162
Spitacin
Superocin
UNII-5E8K9I0O4U
Unex
Velomonit
Zumaflox
ciprofloxacin
nchembio820-comp1
17
BrimonidineapprovedPhase 1, Phase 210859803-98-42435
Synonyms:
5-Bromo-6-(2-imidazolin-2-ylamino)quinoxaline
5-Bromo-N-(2-imidazolin-2-yl)-6-quinoxalinamine
5-Bromo-N-(4,5-dihydro-1H-imidazol-2-yl)-6-quinoxalinamine
5-brom-n-(4,5-dihydro-1h-imidazol-2-yl)chinoxalin-6-amin
5-bromo-6-(imidazolidinylideneamino)quinoxaline
5-bromo-6-(imidazolin-2-ylamino)quinoxaline
5-bromo-N-(4,5-dihydro-1H-imidazol-2-yl)quinoxalin-6-amine
59803-98-4
6-Quinoxalinamine, 5-bromo-N-(4,5-dihydro-1H-imidazol-2-yl)- (9CI)
70359-46-5 (tartrate[1:1])
AC-162
AC1L1DO5
AC1Q24IC
AC1Q26LW
AGN 190342
AGN-190342
AR-1G7332
BIDD:GT0649
BRN 0751629
Brimonidina
Brimonidine
Brimonidine (INN)
Brimonidine Tartrate
Brimonidine [INN:BAN]
Brimonidine tartrate
Brimonidinum
Bromoxidine
C07886
C11H10BrN5
CHEBI:3175
CHEMBL844
CID2435
CPD000058355
D07540
DB00484
EU-0101216
FT-0082636
L000615
LK 14304-18
 
LS-142950
Lopac-U-104
Lopac0_001216
MLS000069370
MLS001076349
Mirvaso
MolPort-003-959-841
NCGC00016069-01
NCGC00016069-02
NCGC00016069-06
NCGC00016069-11
NCGC00023468-02
NCGC00023468-04
NCGC00023468-05
NCGC00023468-06
NCGC00023468-07
NSC318825
Onreltea
PDSP1_000640
PDSP2_000635
SAM002548958
SMR000058355
T6531398
Tocris-0425
U-104
U104_SIGMA
UK 14,304
UK 14,304-18
UK 14304
UK 14304-18
UK 14308
UK-14,304-18
UK-14,308
UK-14304
UNII-E6GNX3HHTE
ZINC21303210
brimonidina
brimonidine
brimonidinum
nchembio705-7
18
EphedrineapprovedPhase 1, Phase 2438299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
19
Minocyclineapproved, investigationalPhase 1, Phase 216210118-90-85281021
Synonyms:
(2Z,4S,4aS,5aR,12aS)-2-[amino(hydroxy)methylidene]-4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE
(4S,4AS,5ar,12as)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10118-90-8
13614-98-7 (mono-hydrochloride)
4,7-Bis(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,10,12,12a-tetrahydroxy-1,11-dioxo-2-naphthacenecarboxamide
4708-96-7
7-Dimethylamino-6-demethyl-6-deoxytetracycline
AC1NQXWM
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
HMS2090D03
HSDB 3130
LMPK07000002
 
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline
Minocycline (USAN/INN)
Minocycline Hydrochloride
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
Solodyn
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
Ximino
minociclinum
minocycline
nchembio.559-comp1
20
PseudoephedrineapprovedPhase 1, Phase 243890-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D-Psi-ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephed 60
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
Isoephedrine
KBio1_000451
 
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-Psi-ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine Hydrochloride
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrine hydrochloride
Pseudoephedrine sulfate
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Suphedrine
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
trans-Ephedrine
21
Valproic Acidapproved, investigationalPhase 230299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-PROPYL-pentanoic acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
22Adrenergic alpha-2 Receptor AgonistsPhase 1, Phase 2732
23cadexomer iodinePhase 2, Phase 1425
24
IodinePhase 2, Phase 14597553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
25ProxymetacainePhase 2, Phase 131
26Povidone-IodinePhase 2, Phase 1117
27PovidonePhase 2, Phase 1114
28Interferon-gammaPhase 1, Phase 2135
29Nasal DecongestantsPhase 1, Phase 2406
30TetrahydrozolinePhase 1, Phase 2484
31Soy BeanNutraceuticalPhase 2427
32Omega 3 Fatty AcidNutraceuticalPhase 2890
33GojiNutraceuticalPhase 29
34LyciumNutraceuticalPhase 29
35
TropicamideapprovedPhase 1211508-75-45593
Synonyms:
(+-)-N-Ethyl-2-phenyl-N-(4-pyridylmethyl)hydracrylamide
1508-75-4
5-22-09-00359 (Beilstein Handbook Reference)
AB00052120
AC-816
AC1L1KOZ
AC1Q5IFA
AR-1K6980
Akorn Brand of Tropicamide
Alcon Brand of Tropicamide
BPBio1_000303
BRD-A79672927-001-05-8
BRN 0285563
BSPBio_000275
BSPBio_002289
Bio-0810
Bistropamide
Bournonville Brand of Tropicamide
CHEMBL1200604
CID5593
CPD000058523
Cahill May Roberts Brand of Tropicamide
Chauvin Brand of Tropicamide
Colircusi Tropicamida
D00397
D014331
DB00809
DivK1c_000448
EINECS 216-140-2
EU-0101223
Epitromina
HMS1568N17
HMS1921I09
HMS2089M05
HMS2092A18
HMS501G10
I-Picamide
I06-0811
IDI1_000448
KBio1_000448
KBio2_001064
KBio2_003632
KBio2_006200
KBio3_001509
KBioGR_000873
KBioSS_001064
L001262
LS-28545
Lopac0_001223
MLS001306442
MLS002154240
Medical Ophthalmics Brand of Tropicamide
Minims tropicamide
MolPort-000-159-321
Mydral
Mydriacyl
Mydriacyl (TN)
Mydriafair
Mydriaticum
Mydrum
N-Ethyl-2-phenyl-N-(4-pyridylmethyl)hydracrylamide
N-Ethyl-2-phenyl-N-4-[-pyridyl-methyl]hydracrylamide
N-Ethyl-N-(4-pyridylmethyl)tropamid
N-Ethyl-N-(4-pyridylmethyl)tropamide
N-Ethyl-alpha-(hydroxymethyl)-N-(4-pyridinylmethyl)benzeneacetamide
N-ethyl-3-hydroxy-2-phenyl-N-(pyridin-4-ylmethyl)propanamide
NCGC00016065-03
NCGC00016065-08
 
NCGC00024866-02
NCGC00024866-03
NCGC00024866-04
NCGC00024866-05
NCGC00024866-06
NINDS_000448
Novartis Brand of Tropicamide
Ocu Tropic
Ocu-Tropic
OcuTropic
Ocumed Brand of Tropicamide
Ocusoft Brand of Tropicamide
Opticyl
Paremyd
Pharmafair Brand of Tropicamide
Prestwick0_000228
Prestwick1_000228
Prestwick2_000228
Prestwick3_000228
Prestwick_487
Rivex Brand of Tropicamide
Ro 1-7683
SAM002564235
SMP1_000304
SMR000058523
SPBio_000872
SPBio_002196
SPECTRUM1500599
STK934612
Spectro-Cyl
Spectrum2_000936
Spectrum3_000655
Spectrum4_000377
Spectrum5_001585
Spectrum_000584
Stulln Brand 1 of Tropicamide
Stulln Brand 2 of Tropicamide
T 9778
T9778_SIGMA
TL8001101
Triaminic DM
Tropicacyl
Tropicamid
Tropicamida
Tropicamida [INN-Spanish]
Tropicamide
Tropicamide (JP15/USP/INN)
Tropicamide Alcon Brand
Tropicamide Chauvin Brand
Tropicamide Faure
Tropicamide Minims
Tropicamide Monofree
Tropicamide Monohydrochloride, (R)-Isomer
Tropicamide Monohydrochloride, (S)-Isomer
Tropicamide Novartis Brand
Tropicamide Ocumed Brand
Tropicamide Pharmafair Brand
Tropicamide Rivex Brand
Tropicamide [USAN:INN:BANJAN]
Tropicamide, (+-)-Isomer
Tropicamide, (R)-Isomer
Tropicamide, (S)-Isomer
Tropicamidum
Tropicamidum [INN-Latin]
Tropikamid
Tropimil
UNII-N0A3Z5XTC6
Visumidriatic
n-ethyl-n-(g-picolyl)tropamide
tropicamide
36LecithinNutraceuticalPhase 157
37
Ornithineapproved, nutraceutical3170-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
38
Pyridoxineapproved, nutraceutical15265-23-61054
Synonyms:
(5-hydroxy-4,6-dimethylpyridin-3-yl)methyl phosphate
12001-78-4
2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin [German]
2-Methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-Methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine
2-methyl-3-hydroxy-4,5-bis(hydroxy-methyl) pyridine
2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-methyl-4,5-dimethylol-pyridin-3-ol
2B3E07D2-E4CC-4CC5-B085-6070BA01F9F0
3,4-Pyridinedimethanol, 5-hydroxy-6-methyl-, hydrochloride
3-Hydroxy-2-Picoline-4,5-dimethanol
3-Hydroxy-4,5-dihydroxymethyl-2-methylpyridine hydrochloride
3-Hydroxy-4,5-dimethylol-.alpha.-picoline hydrochloride
3-Hydroxy-4,5-dimethylol-alpha-picoline
3-Hydroxy-4,5-dimethylol-alpha-picoline hydrochloride
3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine
4,5-Bis(hydroxymethyl)-2-methyl-3-pyridinol
4,5-Bis(hydroxymethyl)-2-methylpyridin-3-ol hydrochloride
4,5-bis(hydroxymethyl)-2-methyl-3-pyridinol hydrochloride
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol
4,5-bis(hydroxymethyl)-2-methylpyridine-3-ol
4-Deoxypyridoxine 5'-phosphate
47862_SUPELCO
5-Hydroxy-6-methyl-3,4-pyridinedicarbinol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol
5-Hydroxy-6-methyl-3,4-pyridinedimethanol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol, hydrochloride
58-56-0
58-56-0 (HCL)
58-56-0 (hydrochloride)
65-23-6
65-23-6 (Parent)
8059-24-3
85078-23-5
AC-12024
AC-14512
AC-907/25014218
AC1L1AMH
AC1L1LMI
AC1L2XK2
AC1Q22HP
AC1Q2G66
AC1Q3F63
AI3-19016
AIDS-006784
AIDS006784
AR-1A6363
AR-1J1632
Adermin hydrochloride
Adermine
Adermine hydrochloride
Aderomine hydrochloride
Aderoxin
Aderoxine
Alestrol
BB_NC-0050
BIDD:PXR0180
BPBio1_000646
BSPBio_000586
Becilan
Beesix
Benadon
Bonasanit
C00314
C8H11NO3
CAS-58-56-0
CBDivE_015627
CCRIS 1903
CHEBI:16709
CHEBI:30961
CHEMBL1200756
CHEMBL1364
CID104817
CID1054
CID6019
CPD0-1221
Campoviton 6
Cernevit-12
D02179
D025101
D08454
DB00165
EINECS 200-386-2
EINECS 200-603-0
EINECS 232-503-8
Godabion
Gravidox
HMS1569N08
HMS2093L07
HSDB 1212
Hexa-Betalin
Hexa-Betalin (R)
Hexa-betalin (TN)
Hexabetalin
Hexabione hydrochloride
Hexavibex
 
Hexermin
Hexermine
Hexobion
Hydoxin
I02-1897
I02-2297
KST-1A8556
LS-134393
LS-187072
LS-2332
MLS001074329
MLS002153915
MolPort-002-137-856
MolPort-002-319-991
MolPort-005-933-330
NCGC00016261-01
NCGC00164317-01
NCGC00180946-01
NSC 36225
NSC36225
NSC36225 (HCL)
Nestrex
Oprea1_061614
P0561
P4722_SIAL
P5669_SIGMA
P6280_SIGMA
P8666_SIGMA
P9755_SIAL
PN
PN HCl
PYRIDOXINE HYDROCHLORIDE
PYRIDOXINE HYDROCHLORIDE, U.S.P.
Paxadon
Piridossina
Piridossina [DCIT]
Piridoxina
Piridoxina [INN-Spanish]
Prestwick0_000623
Prestwick1_000623
Prestwick2_000623
Prestwick3_000623
Prestwick_925
Pydox
Pyridipca
Pyridox
Pyridoxin
Pyridoxin hydrochloride
Pyridoxine
Pyridoxine (INN)
Pyridoxine HCl
Pyridoxine Hydrochloride
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride
Pyridoxine hydrochloride (JP15/USP)
Pyridoxine hydrochloride [USAN:JAN]
Pyridoxine hydrogen chloride
Pyridoxine monohydrochloride
Pyridoxine, hydrochloride
Pyridoxine-HCl Microencapsulated
Pyridoxinium chloride
Pyridoxinum
Pyridoxinum [INN-Latin]
Pyridoxinum hydrochloricum
Pyridoxinum hydrochloricum (Hungarian)
Pyridoxol
Pyridoxol hydrochloride
Pyridoxol, hydrochloride
Pyridoxolum
Rodex
Rodex (R)
Rodex TD
SMP2_000230
SMR000674613
SPBio_002805
STK177324
STOCK1N-08684
Spondylonal
Tex Six T.R.
TimTec1_000657
UNII-68Y4CF58BV
UNII-KV2JZ1BI6Z
Vitamin B 6
Vitamin B6
Vitamin B6-hydrochloride
Vitamin V6
Vitamin V6 (TN)
Vitamin-?B6
Vitamin-?B6 hydrochloride
Vitaped
WLN: T6NJ B1 CQ D1Q E1Q &GH
ZINC00049154
ZINC21983293
bmse000288
c1302
component of Alestrol
nchembio.93-comp1
pyridoxine
vitamin B6
39
Pyridoxalapproved, nutraceutical15065-22-5, 66-72-81050
Synonyms:
3-HYDROXY-5-(hydroxymethyl)-2-methylisonicotinaldehyde
 
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Pyridoxal
Pyridoxaldehyde
40
Folic Acidapproved, nutraceuticalPhase 0285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
41Vitamin B 6158
42Cyclosporins849
43Vitamin B ComplexPhase 02775
44Lemon BalmNutraceutical12
45
Pyridoxal Phosphatenutraceutical1454-47-71051
Synonyms:
(4-Formyl-5-hydroxy-6-methyl(3-pyridyl))methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methyl-3-pyridinyl)methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate trihydrate
2-Methyl-3-hydroxy-4-formyl-5-pyridylmethylphosphoric acid
3-Hydroxy-2-methyl-5-((phosphonooxy)methyl)-4-pyridinecarboxaldehyde
3-Hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde
4-Formyl-5-hydroxy-6-methyl-pyridin-3-yl)methoxyphosphonic acid
4-Pyridinecarboxaldehyde, 3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]- (9CI)
52064-48-9
52441-27-7
54-47-7
A26BDB6A-282A-4D13-A916-7B2B215B0FD6
AC1L1AM8
AC1Q2P2R
Apolon B(sub 6)
Apolon B6
Biosechs
C00018
CHEBI:18405
CHEMBL82202
CID1051
Codecarboxylase
Coenzyme B6
DB00114
EINECS 200-208-3
HI-Pyridoxin
Hairoxal
Hexermin P
Hexermin-P
Hi-Pyridoxin
Hiadelon
Himitan
Isonicotinaldehyde, 3-hydroxy-5-(hydroxymethyl)-2-methyl-, 5-(dihydrogen phosphate)
LS-134383
MolPort-003-939-335
NCGC00166300-01
NSC 82388
NSC82388
P-5'-P
PAL-P
PLP
PYRIDOXAL-5-PHOSPHATE
Pal-P
Phosphopyridoxal
Phosphopyridoxal coenzyme
Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester
Phosphoridoxal coenzyme
 
Pidopidon
Piodel
Pydoxal
Pyrido
Pyridoxal 5'-(dihydrogen phosphate)
Pyridoxal 5'-phosphate
Pyridoxal 5'-phosphate hydrate
Pyridoxal 5'-phosphate monohydrate - Vitamin B6
Pyridoxal 5'-phosphate monohydrate, vitamin B6
Pyridoxal 5-monophosphoric acid ester
Pyridoxal 5-phosphate
Pyridoxal P
Pyridoxal monophosphate
Pyridoxal phosphate
Pyridoxal phosphate (6CI)
Pyridoxal phosphate [JAN]
Pyridoxal phosphate treated .beta.-lactoglobulin from bovine whey
Pyridoxal, 5-(dihydrogen phosphate)
Pyridoxal, 5-(dihydrogen phosphate) (8CI)
Pyridoxal, 5-(dihydrogenphosphate)
Pyridoxal-5'-phosphate
Pyridoxal-5-Phosphate Hydrate
Pyridoxal-5-monophosphate
Pyridoxal-5P
Pyridoxal-P
Pyridoxaldehyde phosphate
Pyridoxyl phosphate
Pyromijin
SBB065295
SGCUT00188
SRI 2392
Sechvitan
Sechvitan, Vitahexin P
TL8005582
VITAMIN B6 COMPLEX
Vitahexin P
Vitahexin-P
Vitamin B6 phosphate
Vitamin B6 phosphate (ester)
Vitazechs
bmse000111
nchembio.237-comp3
nchembio.266-comp20
nchembio861-comp1
pyridoxal 5-monophosphoric acid ester
pyridoxal 5'-phosphate
pyridoxal 5-phosphate
pyridoxal phosphate
pyridoxal-5P
pyridoxal-P
to_000077
46arginineNutraceutical346
47Vitamin B9NutraceuticalPhase 02851
48GinkgoNutraceuticalPhase 053
49FolateNutraceuticalPhase 02851

Interventional clinical trials:

(show top 50)    (show all 112)
idNameStatusNCT IDPhase
1The Role of Capsular Tension Ring (CTR) in Anterior Capsular ContractionCompletedNCT00717080Phase 4
2A Study Evaluating the Efficacy and Safety of Sildenafil in Men With Traumatic Spinal Cord Injury and Erectile DysfunctionCompletedNCT00654082Phase 4
3Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin ACompletedNCT00346333Phase 3
4A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis PigmentosaCompletedNCT00447993Phase 2, Phase 3
5A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis PigmentosaCompletedNCT00447980Phase 2, Phase 3
6Randomized Trial for Retinitis PigmentosaCompletedNCT00000116Phase 3
7Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis PigmentosaCompletedNCT00000114Phase 3
8The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella BardawilRecruitingNCT01680510Phase 2, Phase 3
9Retraining Walking After Spinal Cord InjuryActive, not recruitingNCT00059553Phase 2, Phase 3
10Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis PigmentosaTerminatedNCT01786395Phase 3
11Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis PigmentosaCompletedNCT01560715Phase 2
12Safety Study in Retinal Transplantation for Retinitis Pigmentosa.CompletedNCT00345917Phase 2
13Effects of Lutein in Retinitis PigmentosaCompletedNCT00029289Phase 1, Phase 2
14DHA and X-Linked Retinitis PigmentosaCompletedNCT00100230Phase 2
15An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis PigmentosaCompletedNCT00661479Phase 1, Phase 2
16Feasibility Study of a Chronic Retinal Stimulator in Retinitis PigmentosaCompletedNCT00279500Phase 1, Phase 2
17Study of Human Central Nervous System Stem Cells (HuCNS-SC) in Patients With Thoracic Spinal Cord InjuryCompletedNCT01321333Phase 1, Phase 2
18Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium BarbarumRecruitingNCT02244996Phase 2
19Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis PigmentosaRecruitingNCT01914913Phase 1, Phase 2
20Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaRecruitingNCT01530659Phase 2
21Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
22RST-001 Phase I/II Trial for Retinitis PigmentosaRecruitingNCT02556736Phase 1, Phase 2
23Safety and Tolerability of hRPC in Retinitis PigmentosaRecruitingNCT02464436Phase 1, Phase 2
24Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis PigmentosaRecruitingNCT02320812Phase 1, Phase 2
25Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)RecruitingNCT02338973Phase 1, Phase 2
26Gene Therapy for Blindness Caused by ChoroideremiaRecruitingNCT01461213Phase 1, Phase 2
27Trial of Oral Valproic Acid for Retinitis PigmentosaActive, not recruitingNCT01233609Phase 2
28Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis PigmentosaActive, not recruitingNCT02086890Phase 1, Phase 2
29A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP)Active, not recruitingNCT02110225Phase 1, Phase 2
30Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis PigmentosaActive, not recruitingNCT02140164Phase 1, Phase 2
31Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular EdemaActive, not recruitingNCT02609165Phase 2
32Efficacy and Safety of Oral Valproic Acid for Retinitis PigmentosaActive, not recruitingNCT01399515Phase 2
33Argus® II Retinal Stimulation System Feasibility ProtocolActive, not recruitingNCT00407602Phase 2
34Surgical Management of Spinal Cord Injuries In NeckActive, not recruitingNCT00475748Phase 2
35A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1BEnrolling by invitationNCT02065011Phase 1, Phase 2
36Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) StudyNot yet recruitingNCT02661711Phase 2
37The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis PigmentosaNot yet recruitingNCT02018692Phase 1, Phase 2
38Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis PigmentosaCompletedNCT01068561Phase 1
39Acupuncture for the Treatment of Vision Loss Due to Retinitis PigmentosaCompletedNCT01604356Phase 1
40Investigating the Effect of Vitamin A Supplementation on Retinitis PigmentosaCompletedNCT00065455Phase 1
41Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the EyeCompletedNCT00063765Phase 1
42Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65)CompletedNCT01543906Phase 1
43Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)CompletedNCT01521793Phase 1
44Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) MutationsCompletedNCT01014052Phase 1
45Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis PigmentosaRecruitingNCT02280135Phase 1
46Retinal Imaging in Patients With Inherited Retinal DegenerationsRecruitingNCT00254605Phase 1
47Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK MutationsRecruitingNCT01482195Phase 1
48Argus II Retinal Prosthesis System Dry AMD Feasibility Study ProtocolRecruitingNCT02227498Phase 1
49Feasibility and Safety of Adult Human Bone Marrow-derived Mesenchymal Stem Cells by Intravitreal Injection in Patients With Retinitis PigmentosaEnrolling by invitationNCT01531348Phase 1
50Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for RetinopathyEnrolling by invitationNCT01736059Phase 1

Search NIH Clinical Center for Retinitis Pigmentosa

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Retinitis Pigmentosa cell therapies at LifeMap Discovery.

Genetic Tests for Retinitis Pigmentosa

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Genetic tests related to Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa22 24 ZNF513

Anatomical Context for Retinitis Pigmentosa

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MalaCards organs/tissues related to Retinitis Pigmentosa:

33
Retina, Eye, Bone, Testes, Skin, Testis, Kidney

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
id TissueAnatomical CompartmentCell Relevance
1 EyeOuter Nuclear LayerCone Precursor Cells Potential therapeutic candidate, affected by disease
2 EyeOuter Nuclear LayerMature L Cone Cells Potential therapeutic candidate, affected by disease
3 EyeOuter Nuclear LayerMature M Cone Cells Potential therapeutic candidate, affected by disease
4 EyeOuter Nuclear LayerMature M-S Cone Cells Potential therapeutic candidate, affected by disease
5 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
6 EyeOuter Nuclear LayerMature Rod Cells Potential therapeutic candidate, affected by disease
7 EyeOuter Nuclear LayerMature S Cone Cells Potential therapeutic candidate, affected by disease
8 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease
9 EyeOuter Nuclear LayerRod Precursor Cells Potential therapeutic candidate, affected by disease

Animal Models for Retinitis Pigmentosa or affiliated genes

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MGI Mouse Phenotypes related to Retinitis Pigmentosa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118611.3CRB1, PDE6B, PRPF3, PRPF8, PRPH2, RHO
2MP:000539111.1CERKL, CRB1, NRL, PDE6B, PRPF3, PRPF8
3MP:000363111.1CRB1, NRL, PDE6B, PRPH2, RHO, RP1

Publications for Retinitis Pigmentosa

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Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1272)
idTitleAuthorsYear
1
RECURRENT CENTRAL SEROUS CHORIORETINOPATHY ASSOCIATED WITH RETINITIS PIGMENTOSA TREATED WITH CARBONIC ANHYDRASE INHIBITORS. (26510001)
2015
2
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. (24969741)
2014
3
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. (24778606)
2014
4
Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. (24618324)
2014
5
Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule. (25381353)
2014
6
Comments on Letter to the Editor "Unilateral intravitreal dexamethazone implant for bilateral retinitis pigmentosa-related macular edema". (23996148)
2013
7
A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa. (23911150)
2013
8
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
9
Comparison between MP-1 and Humphrey visual field defects in glaucoma and retinitis pigmentosa. (22733099)
2012
10
Mutations in the I^-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. (21655355)
2011
11
Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa. (22174574)
2011
12
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. (21174529)
2011
13
Evolution of an Astrocytic Hamartoma of the Optic Nerve Head in a Patient with Retinitis Pigmentosa - Photographic Documentation over 2 Years of Follow-Up. (21347192)
2011
14
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. (21310491)
2011
15
Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa]. (21914266)
2011
16
Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date. (22131870)
2011
17
The management of "coats' response" in a patient with x-linked retinitis pigmentosa-a case report. (22084788)
2011
18
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. (20238057)
2010
19
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. (20507925)
2010
20
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. (20537394)
2010
21
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. (21069908)
2010
22
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue. (19913029)
2010
23
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
24
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. (19710410)
2010
25
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). (18385099)
2008
26
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (18836446)
2008
27
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. (18552978)
2008
28
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (18806796)
2008
29
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
30
The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan]. (17936999)
2007
31
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
32
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. (17093403)
2006
33
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. (17014888)
2006
34
Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. (16935610)
2006
35
Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. (16139010)
2005
36
Retinitis pigmentosa in mevalonate kinase deficiency. (16435210)
2005
37
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (15570217)
2004
38
Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide: case report. (15180250)
2003
39
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (12362048)
2002
40
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. (11910130)
2001
41
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. (11708883)
2001
42
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. (10711677)
2000
43
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (10192380)
1999
44
Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. (9895244)
1998
45
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. (9345108)
1997
46
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. (9070931)
1997
47
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. (9286280)
1997
48
Prevalence of posterior vitreous detachment in retinitis pigmentosa. (7746622)
1995
49
Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. (7747760)
1994
50
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. (1358680)
1992

Variations for Retinitis Pigmentosa

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Clinvar genetic disease variations for Retinitis Pigmentosa:

5 (show all 353)
id Gene Variation Type Significance SNP ID Assembly Location
1KLHL7NM_001031710.2(KLHL7): c.449G> A (p.Ser150Asn)single nucleotide variantPathogenicrs137853112GRCh37Chr 7, 23180394: 23180394
2C2orf71C2ORF71, TRP253TERsingle nucleotide variantPathogenic
3KLHL7NM_001031710.2(KLHL7): c.457G> A (p.Ala153Thr)single nucleotide variantPathogenicrs137853114GRCh37Chr 7, 23180402: 23180402
4OFD1NM_003611.2(OFD1): c.935+706A> Gsingle nucleotide variantPathogenicrs730880283GRCh38Chr X, 13750239: 13750239
5C2orf71NM_001029883.2(C2orf71): c.601A> T (p.Ile201Phe)single nucleotide variantPathogenicrs267606690GRCh37Chr 2, 29296527: 29296527
6C2orf71NM_001029883.2(C2orf71): c.947delA (p.Asn316Metfs)deletionPathogenicrs779886453GRCh38Chr 2, 29073315: 29073315
7C2orf71NM_001029883.2(C2orf71): c.556C> T (p.Gln186Ter)single nucleotide variantPathogenicrs267606691GRCh37Chr 2, 29296572: 29296572
8C2orf71NM_001029883.2(C2orf71): c.2756_2768delAGCCAGCCCTGGA (p.Lys919Thrfs)deletionPathogenicrs794728002GRCh38Chr 2, 29071494: 29071506
9RP2NM_006915.2(RP2): c.16_18delTCC (p.Ser6del)deletionPathogenicrs137852284GRCh37Chr X, 46696551: 46696553
10RP2NM_006915.2(RP2): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs104894925GRCh37Chr X, 46696611: 46696611
11RP2NM_006915.2(RP2): c.353G> A (p.Arg118His)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
12RP2NM_006915.2(RP2): c.453C> G (p.Tyr151Ter)single nucleotide variantPathogenicrs104894926GRCh37Chr X, 46713261: 46713261
13RP2RP2, 1-BP DELdeletionPathogenic
14RP2NM_006915.2(RP2): c.353G> T (p.Arg118Leu)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
15RP2RP2, 1-BP INS, 303TinsertionPathogenic
16RP2NM_006915.2(RP2): c.358C> T (p.Arg120Ter)single nucleotide variantPathogenicrs104894927GRCh37Chr X, 46713166: 46713166
17NM_001077620.2(PRCD): c.5G> A (p.Cys2Tyr)single nucleotide variantPathogenicrs121918369GRCh37Chr 17, 74536228: 74536228
18SLC7A14NM_020949.2(SLC7A14): c.988G> A (p.Gly330Arg)single nucleotide variantPathogenicrs2276717GRCh37Chr 3, 170201230: 170201230
19SLC7A14NM_020949.2(SLC7A14): c.2122T> G (p.Phe708Val)single nucleotide variantPathogenicrs587777272GRCh37Chr 3, 170185037: 170185037
20SLC7A14NM_020949.2(SLC7A14): c.1391G> T (p.Cys464Phe)single nucleotide variantPathogenicrs79668755GRCh37Chr 3, 170198680: 170198680
21SLC7A14NM_020949.2(SLC7A14): c.395C> T (p.Ala132Val)single nucleotide variantPathogenicrs587777273GRCh37Chr 3, 170219044: 170219044
22KIZNM_018474.4(KIZ): c.226C> T (p.Arg76Ter)single nucleotide variantPathogenicrs202210819GRCh37Chr 20, 21117104: 21117104
23KIZNM_018474.4(KIZ): c.52G> T (p.Glu18Ter)single nucleotide variantPathogenicrs587777376GRCh37Chr 20, 21106808: 21106808
24KIZNM_018474.4(KIZ): c.119_122delAACT (p.Lys40Ilefs)deletionPathogenicrs587777377GRCh37Chr 20, 21112767: 21112770
25RHONM_000539.3(RHO): c.68C> A (p.Pro23His)single nucleotide variantPathogenicrs104893768GRCh37Chr 3, 129247644: 129247644
26RHONM_000539.3(RHO): c.1040C> T (p.Pro347Leu)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
27RHONM_000539.3(RHO): c.1039C> T (p.Pro347Ser)single nucleotide variantPathogenicrs29001637GRCh37Chr 3, 129252553: 129252553
28RHONM_000539.3(RHO): c.173C> G (p.Thr58Arg)single nucleotide variantPathogenicrs28933394GRCh37Chr 3, 129247749: 129247749
29RHORHO, 3-BP DELdeletionPathogenic
30RHONM_000539.3(RHO): c.50C> T (p.Thr17Met)single nucleotide variantPathogenicrs104893769GRCh37Chr 3, 129247626: 129247626
31RHONM_000539.3(RHO): c.133T> C (p.Phe45Leu)single nucleotide variantPathogenicrs104893770GRCh37Chr 3, 129247709: 129247709
32RHONM_000539.3(RHO): c.260T> A (p.Val87Asp)single nucleotide variantPathogenicrs104893771GRCh37Chr 3, 129247836: 129247836
33RHONM_000539.3(RHO): c.266G> A (p.Gly89Asp)single nucleotide variantPathogenicrs104893772GRCh37Chr 3, 129247842: 129247842
34RHONM_000539.3(RHO): c.316G> T (p.Gly106Trp)single nucleotide variantPathogenicrs104893773GRCh37Chr 3, 129247892: 129247892
35RHONM_000539.3(RHO): c.568G> A (p.Asp190Asn)single nucleotide variantPathogenicrs104893779GRCh37Chr 3, 129251131: 129251131
36RHONM_000539.3(RHO): c.404G> T (p.Arg135Leu)single nucleotide variantPathogenicrs104893774GRCh37Chr 3, 129249761: 129249761
37RHONM_000539.3(RHO): c.533A> G (p.Tyr178Cys)single nucleotide variantPathogenicrs104893776GRCh37Chr 3, 129251096: 129251096
38RHONM_000539.3(RHO): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104893777GRCh37Chr 3, 129251132: 129251132
39RHONM_000539.3(RHO): c.632A> C (p.His211Pro)single nucleotide variantPathogenicrs28933993GRCh37Chr 3, 129251195: 129251195
40RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
41RHONM_000539.3(RHO): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs104893778GRCh37Chr 3, 129252544: 129252544
42RHONM_000539.3(RHO): c.886A> G (p.Lys296Glu)single nucleotide variantPathogenicrs29001653GRCh37Chr 3, 129251565: 129251565
43RHORHO, 12-BP DEL, EX1deletionPathogenic
44RHONM_000539.3(RHO): c.1040C> G (p.Pro347Arg)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
45RHONM_000539.3(RHO): c.544G> A (p.Gly182Ser)single nucleotide variantPathogenicrs104893780GRCh37Chr 3, 129251107: 129251107
46RHONM_000539.3(RHO): c.800C> T (p.Pro267Leu)single nucleotide variantPathogenicrs104893781GRCh37Chr 3, 129251479: 129251479
47RHONM_000539.3(RHO): c.329G> A (p.Cys110Tyr)single nucleotide variantPathogenicrs104893787GRCh37Chr 3, 129247905: 129247905
48RHONM_000539.3(RHO): c.158C> G (p.Pro53Arg)single nucleotide variantPathogenicrs28933395GRCh37Chr 3, 129247734: 129247734
49RHONM_000539.3(RHO): c.316G> A (p.Gly106Arg)single nucleotide variantPathogenicrs104893773GRCh37Chr 3, 129247892: 129247892
50RHORHO, IVS4, G-T, +1single nucleotide variantPathogenic
51RHONM_000539.3(RHO): c.568G> T (p.Asp190Tyr)single nucleotide variantPathogenicrs104893779GRCh37Chr 3, 129251131: 129251131
52RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
53RHONM_000539.3(RHO): c.620T> G (p.Met207Arg)single nucleotide variantPathogenicrs104893782GRCh37Chr 3, 129251183: 129251183
54RHONM_000539.3(RHO): c.151G> C (p.Gly51Arg)single nucleotide variantPathogenicrs104893792GRCh37Chr 3, 129247727: 129247727
55RHONM_000539.3(RHO): c.341G> A (p.Gly114Asp)single nucleotide variantPathogenicrs104893788GRCh37Chr 3, 129247917: 129247917
56RHONM_000539.3(RHO): c.491C> A (p.Ala164Glu)single nucleotide variantPathogenicrs104893793GRCh37Chr 3, 129249848: 129249848
57RHONM_000539.3(RHO): c.511C> T (p.Pro171Ser)single nucleotide variantPathogenicrs104893794GRCh37Chr 3, 129249868: 129249868
58RHONM_000539.3(RHO): c.790_792delTGC (p.Cys264del)deletionPathogenicrs121918590GRCh37Chr 3, 129251469: 129251471
59RHONM_000539.3(RHO): c.1033G> C (p.Val345Leu)single nucleotide variantPathogenicrs104893795GRCh37Chr 3, 129252547: 129252547
60RHONM_000539.3(RHO): c.1040C> A (p.Pro347Gln)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
61RHONM_000539.3(RHO): c.67C> G (p.Pro23Ala)single nucleotide variantPathogenicrs104893797GRCh37Chr 3, 129247643: 129247643
62RHONM_000539.3(RHO): c.1033G> A (p.Val345Met)single nucleotide variantPathogenicrs104893795GRCh37Chr 3, 129252547: 129252547
63PDE6GPDE6G, IVS3DS, G-T, +1single nucleotide variantPathogenic
64PDE6BNM_000283.3(PDE6B): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs121918579GRCh37Chr 4, 647908: 647908
65PDE6BNM_000283.3(PDE6B): c.1591C> T (p.Arg531Ter)single nucleotide variantPathogenicrs121918580GRCh37Chr 4, 654379: 654379
66PDE6BNM_000283.3(PDE6B): c.1488delC (p.Thr497Profs)deletionPathogenicrs730880317GRCh37Chr 4, 654276: 654276
67PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
68PDE6BNM_000283.3(PDE6B): c.169_239dup71 (p.Leu83Cysfs)duplicationPathogenicGRCh38Chr 4, 625795: 625865
69PDE6BNM_000283.3(PDE6B): c.2419T> A (p.Trp807Arg)single nucleotide variantPathogenicrs121918583GRCh37Chr 4, 661711: 661711
70PDE6ANM_000440.2(PDE6A): c.1749C> G (p.Tyr583Ter)single nucleotide variantPathogenicrs121918576GRCh37Chr 5, 149265917: 149265917
71PDE6ANM_000440.2(PDE6A): c.1032C> A (p.Ser344Arg)single nucleotide variantPathogenicrs121918577GRCh37Chr 5, 149286908: 149286908
72PDE6ANM_000440.2(PDE6A): c.1683G> A (p.Trp561Ter)single nucleotide variantPathogenicrs121918578GRCh37Chr 5, 149274791: 149274791
73RPE65NM_000329.2(RPE65): c.1087C> A (p.Pro363Thr)single nucleotide variantPathogenicrs121917744GRCh37Chr 1, 68903911: 68903911
74RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
75PRPH2NM_000322.4(PRPH2): c.352_354delTGC (p.Cys119del)deletionPathogenicrs121918561GRCh37Chr 6, 42689719: 42689721
76PRPH2NM_000322.4(PRPH2): c.655_657delCCA (p.Pro219del)deletionPathogenicrs121918562GRCh37Chr 6, 42672274: 42672276
77PRPH2PRPH2, 1-BP DEL, 1160TdeletionPathogenic
78NRLNM_006177.3(NRL): c.148T> A (p.Ser50Thr)single nucleotide variantPathogenicrs104894459GRCh37Chr 14, 24551910: 24551910
79PRPF4NM_004697.4(PRPF4): c.944C> T (p.Pro315Leu)single nucleotide variantPathogenicrs587777599GRCh37Chr 9, 116050463: 116050463
80PRPF4NM_004697.4(PRPF4): c.-114_-97del18deletionPathogenicrs541873609GRCh37Chr 9, 116037910: 116037927
81MYO7ANM_000260.3(MYO7A): c.1667G> T (p.Gly556Val)single nucleotide variantLikely pathogenicrs527236085GRCh38Chr 11, 77162965: 77162965
82PDE6BNM_000283.3(PDE6B): c.1467+1G> Csingle nucleotide variantPathogenicrs527236089GRCh37Chr 4, 652807: 652807
83PDE6BNM_000283.3(PDE6B): c.1576G> A (p.Glu526Lys)single nucleotide variantLikely pathogenicrs527236091GRCh37Chr 4, 654364: 654364
84PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicrs527236088GRCh37Chr 4, 654392: 654392
85PDE6BNM_000283.3(PDE6B): c.993-1G> Csingle nucleotide variantLikely pathogenicrs527236090GRCh37Chr 4, 649728: 649728
86PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
87PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
88ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
89RHONM_000539.3(RHO): c.180C> A (p.Tyr60Ter)single nucleotide variantLikely pathogenicrs527236101GRCh37Chr 3, 129247756: 129247756
90RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
91RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
92RHONM_000539.3(RHO): c.977_980delACCC (p.Pro327Trpfs)deletionLikely pathogenicrs527236102GRCh37Chr 3, 129252491: 129252494
93CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
94CRXNM_000554.4(CRX): c.897G> C (p.Leu299Phe)single nucleotide variantLikely pathogenicrs527236063GRCh38Chr 19, 47839964: 47839964
95C2orf71NM_001029883.2(C2orf71): c.2126delG (p.Gly709Glufs)deletionLikely pathogenicrs527236055GRCh37Chr 2, 29295002: 29295002
96C2orf71NM_001029883.2(C2orf71): c.2988dupC (p.Thr997Hisfs)duplicationLikely pathogenicrs527236056GRCh37Chr 2, 29294140: 29294140
97RPGRNM_001034853.1(RPGR): c.1087_1088insGTAG (p.Val363Glyfs)insertionLikely pathogenicrs527236109GRCh37Chr X, 38158366: 38158367
98RPGRNM_001034853.1(RPGR): c.1981G> T (p.Glu661Ter)single nucleotide variantLikely pathogenicrs527236108GRCh37Chr X, 38146271: 38146271
99RPGRNM_000328.2(RPGR): c.894_895delTT (p.Ser298Argfs)deletionLikely pathogenicrs527236111GRCh37Chr X, 38163927: 38163928
100RPGRNM_001034853.1(RPGR): c.922G> C (p.Ala308Pro)single nucleotide variantLikely pathogenicrs527236112GRCh37Chr X, 38163900: 38163900
101NM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
102NM_001142564.1(CNGA1): c.1046G> A (p.Arg349His)single nucleotide variantLikely pathogenicrs375412499GRCh37Chr 4, 47939672: 47939672
103NM_001142564.1(CNGA1): c.1196A> G (p.Asp399Gly)single nucleotide variantLikely pathogenicrs527236059GRCh37Chr 4, 47939522: 47939522
104NM_001142564.1(CNGA1): c.1840G> A (p.Gly614Ser)single nucleotide variantLikely pathogenicrs527236057GRCh37Chr 4, 47938878: 47938878
105NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs)deletionLikely pathogenicrs527236058GRCh37Chr 4, 47953415: 47953415
106EYSNM_001142800.1(EYS): c.1345A> T (p.Lys449Ter)single nucleotide variantLikely pathogenicrs527236077GRCh37Chr 6, 66063465: 66063465
107EYSNM_001142800.1(EYS): c.1750G> T (p.Glu584Ter)single nucleotide variantLikely pathogenicrs527236072GRCh37Chr 6, 66044889: 66044889
108EYSNM_001142800.1(EYS): c.4387delA (p.Arg1463Glyfs)deletionLikely pathogenicrs527236075GRCh37Chr 6, 65301373: 65301373
109EYSNM_001142800.1(EYS): c.4402_4403insTCAAGAGG (p.Asp1468Valfs)insertionLikely pathogenicrs527236073GRCh37Chr 6, 65301357: 65301358
110EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
111EYSNM_001142800.1(EYS): c.5014C> T (p.Gln1672Ter)single nucleotide variantLikely pathogenicrs527236074GRCh37Chr 6, 65300746: 65300746
112EYSNM_001142800.1(EYS): c.5202_5203delGT (p.Phe1735Glnfs)deletionLikely pathogenicrs527236071GRCh37Chr 6, 65300557: 65300558
113EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
114EYSNM_001142800.1(EYS): c.7048delT (p.Cys2350Alafs)deletionLikely pathogenicrs527236069GRCh37Chr 6, 64694283: 64694283
115EYSNM_001142800.1(EYS): c.7694delA (p.Asn2565Metfs)deletionLikely pathogenicrs527236078GRCh37Chr 6, 64498027: 64498027
116EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
117EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
118EYSNM_001142800.1(EYS): c.8012T> A (p.Leu2671Ter)single nucleotide variantLikely pathogenicrs527236076GRCh37Chr 6, 64472413: 64472413
119EYSNM_001142800.1(EYS): c.8379_8380insTGCA (p.Glu2794Cysfs)insertionLikely pathogenicrs527236070GRCh37Chr 6, 64431547: 64431548
120EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
121EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
122MAKNM_001242385.1(MAK): c.340dupG (p.Ala114Glyfs)duplicationLikely pathogenicrs527236082GRCh37Chr 6, 10813895: 10813895
123MAKNM_001242385.1(MAK): c.496C> T (p.Arg166Cys)single nucleotide variantLikely pathogenicrs527236081GRCh37Chr 6, 10804120: 10804120
124MAKNM_001242385.1(MAK): c.553G> A (p.Ala185Thr)single nucleotide variantLikely pathogenicrs527236080GRCh37Chr 6, 10804063: 10804063
125CNGB1NM_001297.4(CNGB1): c.217+5G> Csingle nucleotide variantLikely pathogenicrs527236060GRCh38Chr 16, 57964482: 57964482
126CNGB1NM_001297.4(CNGB1): c.2524dupA (p.Thr842Asnfs)duplicationLikely pathogenicrs527236061GRCh38Chr 16, 57904844: 57904844
127TULP1NM_003322.4(TULP1): c.349G> A (p.Glu117Lys)single nucleotide variantLikely pathogenicrs527236117GRCh37Chr 6, 35479425: 35479425
128BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicrs372989281GRCh38Chr 11, 61958194: 61958194
129LRATNM_004744.4(LRAT): c.163C> T (p.Arg55Trp)single nucleotide variantLikely pathogenicrs527236079GRCh37Chr 4, 155665641: 155665641
130TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicrs527236116GRCh37Chr 9, 32541966: 32541969
131NRLNM_006177.3(NRL): c.23delT (p.Leu8Argfs)deletionLikely pathogenicrs527236087GRCh37Chr 14, 24552035: 24552035
132RP1NM_006269.1(RP1): c.1186C> T (p.Arg396Ter)single nucleotide variantLikely pathogenicrs201493928GRCh37Chr 8, 55537628: 55537628
133RP1NM_006269.1(RP1): c.4876G> A (p.Gly1626Arg)single nucleotide variantLikely pathogenicrs527236106GRCh37Chr 8, 55541318: 55541318
134RP1NM_006269.1(RP1): c.5797C> T (p.Arg1933Ter)single nucleotide variantLikely pathogenicrs118031911GRCh37Chr 8, 55542239: 55542239
135RP1NM_006269.1(RP1): c.649delG (p.Gly217Glufs)deletionLikely pathogenicrs527236105GRCh37Chr 8, 55534710: 55534710
136MERTKNM_006343.2(MERTK): c.1450G> A (p.Gly484Ser)single nucleotide variantLikely pathogenicrs527236084GRCh37Chr 2, 112751981: 112751981
137MERTKNM_006343.2(MERTK): c.225delA (p.Gly76Glufs)deletionLikely pathogenicrs527236083GRCh37Chr 2, 112686860: 112686860
138MERTKNM_006343.2(MERTK): c.370C> T (p.Gln124Ter)single nucleotide variantLikely pathogenicrs527236134GRCh38Chr 2, 111929428: 111929428
139PRPF6NM_012469.3(PRPF6): c.550G> C (p.Asp184His)single nucleotide variantLikely pathogenicrs527236096GRCh37Chr 20, 62626380: 62626380
140SNRNP200NM_014014.4(SNRNP200): c.1871G> A (p.Arg624Lys)single nucleotide variantLikely pathogenicrs527236115GRCh37Chr 2, 96959219: 96959219
141SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
142SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
143NR2E3NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys)single nucleotide variantLikely pathogenicrs527236086GRCh38Chr 15, 71811969: 71811969
144PRPF31NM_015629.3(PRPF31): c.562G> T (p.Glu188Ter)single nucleotide variantLikely pathogenicrs527236094GRCh38Chr 19, 54123783: 54123783
145PRPF31NM_015629.3(PRPF31): c.615C> G (p.Tyr205Ter)single nucleotide variantLikely pathogenicrs144738703GRCh38Chr 19, 54123836: 54123836
146PRPF31NM_015629.3(PRPF31): c.764A> T (p.Gln255Leu)single nucleotide variantLikely pathogenicrs527236095GRCh38Chr 19, 54124565: 54124565
147IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
148RDH12NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
149RP1L1NM_178857.5(RP1L1): c.1972C> T (p.Arg658Ter)single nucleotide variantLikely pathogenicrs527236107GRCh37Chr 8, 10469636: 10469636
150RP1L1NM_178857.5(RP1L1): c.235C> T (p.Arg79Cys)single nucleotide variantLikely pathogenicrs377269054GRCh37Chr 8, 10480477: 10480477
151CRB1NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter)single nucleotide variantPathogenicrs114342808GRCh37Chr 1, 197390534: 197390534
152USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
153USH2ANM_206933.2(USH2A): c.13466G> A (p.Gly4489Asp)single nucleotide variantLikely pathogenicrs527236127GRCh37Chr 1, 215847787: 215847787
154USH2ANM_206933.2(USH2A): c.13847G> T (p.Gly4616Val)single nucleotide variantLikely pathogenicrs527236124GRCh37Chr 1, 215844600: 215844600
155USH2ANM_206933.2(USH2A): c.14243C> T (p.Ser4748Phe)single nucleotide variantLikely pathogenicrs527236126GRCh38Chr 1, 215650692: 215650692
156USH2ANM_206933.2(USH2A): c.14450G> A (p.Gly4817Glu)single nucleotide variantLikely pathogenicrs527236125GRCh37Chr 1, 215822002: 215822002
157USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
158USH2ANM_206933.2(USH2A): c.1722_1723insGA (p.Cys575Aspfs)insertionLikely pathogenicrs527236121GRCh37Chr 1, 216465634: 216465635
159USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
160USH2ANM_206933.2(USH2A): c.490G> T (p.Val164Phe)single nucleotide variantLikely pathogenicrs527236123GRCh37Chr 1, 216592017: 216592017
161USH2ANM_206933.2(USH2A): c.6399G> A (p.Trp2133Ter)single nucleotide variantLikely pathogenicrs55958016GRCh37Chr 1, 216173831: 216173831
162USH2ANM_206933.2(USH2A): c.8682delG (p.Arg2894Serfs)deletionLikely pathogenicrs527236120GRCh37Chr 1, 216040512: 216040512
163USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
164IMPDH1NM_000883.3(IMPDH1): c.931G> A (p.Asp311Asn)single nucleotide variantPathogenicrs121912550GRCh37Chr 7, 128038611: 128038611
165IMPDH1NM_000883.3(IMPDH1): c.1057G> A (p.Val353Ile)single nucleotide variantPathogenicrs121912551GRCh37Chr 7, 128038485: 128038485
166IMPDH1NM_000883.3(IMPDH1): c.926G> C (p.Arg309Pro)single nucleotide variantPathogenicrs121912552GRCh37Chr 7, 128038616: 128038616
167NM_177972.2(TUB): c.1194_1195delAG (p.Arg398Serfs)deletionPathogenicrs727502810GRCh37Chr 11, 8122127: 8122128
168TOPORSTOPORS, 1-BP INS, 2474AinsertionPathogenic
169TOPORSTOPORS, 2-BP DEL, 2552GAdeletionPathogenic
170PDE6BNM_000283.3(PDE6B): c.2193+1G> Asingle nucleotide variantPathogenicrs727504075GRCh37Chr 4, 658734: 658734
171PRPF31NM_015629.3(PRPF31): c.1273C> T (p.Gln425Ter)single nucleotide variantPathogenicrs727504107GRCh37Chr 19, 54632558: 54632558
172RP2NM_006915.2(RP2): c.352delC (p.Arg118Valfs)deletionPathogenicrs797044507GRCh37Chr X, 46713160: 46713160
173NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter)single nucleotide variantPathogenicrs121909599GRCh37Chr 4, 47951911: 47951911
174NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter)single nucleotide variantPathogenicrs121909600GRCh37Chr 4, 47945220: 47945220
175NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe)single nucleotide variantPathogenicrs62625014GRCh37Chr 4, 47939552: 47939552
176CNGA1CNGA1, 1-BP DEL, FS655TERdeletionPathogenic
177CA4NM_000717.3(CA4): c.40C> T (p.Arg14Trp)single nucleotide variantPathogenicrs104894559GRCh37Chr 17, 58227435: 58227435
178CA4NM_000717.3(CA4): c.655C> A (p.Arg219Ser)single nucleotide variantPathogenicrs121434551GRCh37Chr 17, 58235718: 58235718
179CA4NM_000717.3(CA4): c.206G> A (p.Arg69His)single nucleotide variantPathogenicrs121434552GRCh37Chr 17, 58234014: 58234014
180USH2ANM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter)single nucleotide variantPathogenicrs146733615GRCh37Chr 1, 215814065: 215814065
181NR2E3NM_014249.3(NR2E3)indelPathogenicrs730882149GRCh38Chr 15, 71811507: 71811508
182RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
183CDHR1CDHR1, 1-BP INS, 524AinsertionPathogenic
184ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicGRCh38Chr 1, 94044736: 94044736
185PDE6BNM_000283.3(PDE6B): c.1060-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 4, 650033: 650033
186RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicGRCh37Chr 8, 55534740: 55534740
187IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
188CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 197398685: 197398685
189CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicGRCh38Chr 1, 197421287: 197421287
190PANK2NM_024960.4(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicGRCh38Chr 20, 3912514: 3912514
191C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicGRCh37Chr 2, 29296416: 29296416
192NM_015662.2(IFT172): c.4701C> A (p.His1567Gln)single nucleotide variantPathogenicrs786205855GRCh38Chr 2, 27446314: 27446314
193IFT172NM_015662.2(IFT172): c.1525-1G> Asingle nucleotide variantPathogenicrs370540673GRCh37Chr 2, 27693963: 27693963
194NM_015662.2(IFT172): c.4815T> G (p.Asp1605Glu)single nucleotide variantPathogenicrs786205856GRCh38Chr 2, 27445929: 27445929
195IFT172NM_015662.2(IFT172): c.770T> C (p.Leu257Pro)single nucleotide variantPathogenicrs786205857GRCh38Chr 2, 27481061: 27481061
196IFT172NM_015662.2(IFT172): c.3112-5T> Asingle nucleotide variantPathogenicrs786205858GRCh38Chr 2, 27457760: 27457760
197PRPF31NM_015629.3(PRPF31): c.1073+1G> Asingle nucleotide variantPathogenicrs794727001GRCh37Chr 19, 54631576: 54631576
198EYSNM_001142800.1(EYS): c.2055T> A (p.Cys685Ter)single nucleotide variantPathogenicrs372354156GRCh37Chr 6, 65767589: 65767589
199EYSNM_001142800.1(EYS): c.2194C> T (p.Gln732Ter)single nucleotide variantPathogenicrs794727120GRCh37Chr 6, 65707540: 65707540
200PDE6ANM_000440.2(PDE6A): c.1926+1G> Asingle nucleotide variantPathogenicrs794727139GRCh37Chr 5, 149264342: 149264342
201NRLNM_006177.3(NRL): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs794727281GRCh37Chr 14, 24551907: 24551907
202PDE6ANM_000440.2(PDE6A): c.2332_2335delGACT (p.Asp778Leufs)deletionPathogenicrs754012367GRCh37Chr 5, 149245756: 149245759
203EYSNM_001142800.1(EYS): c.3443+1G> Tsingle nucleotide variantPathogenicrs373441420GRCh37Chr 6, 65523270: 65523270
204EYSNM_001142800.1(EYS): c.4350_4356delTATAGCT (p.Ile1451Profs)deletionPathogenicrs761238771GRCh37Chr 6, 65301404: 65301410
205CNGB1NM_001297.4(CNGB1): c.2556dupC (p.Lys853Glnfs)duplicationPathogenicrs797044693GRCh37Chr 16, 57938716: 57938716
206RHONM_000539.3(RHO): c.541G> A (p.Glu181Lys)single nucleotide variantPathogenicrs775557680GRCh37Chr 3, 129251104: 129251104
207EYSNM_001142800.1(EYS): c.490C> T (p.Arg164Ter)single nucleotide variantPathogenicrs794727631GRCh37Chr 6, 66204814: 66204814
208RP1NM_006269.1(RP1): c.4555delA (p.Arg1519Glufs)deletionPathogenicrs794727640GRCh37Chr 8, 55540997: 55540997
209RP1NM_006269.1(RP1): c.2700dupA (p.Pro901Thrfs)duplicationPathogenicrs797044735GRCh37Chr 8, 55539142: 55539142
210USH2ANM_206933.2(USH2A): c.8682-9A> Gsingle nucleotide variantLikely pathogenicrs372347027GRCh37Chr 1, 216040521: 216040521
211USH2ANM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs148660051GRCh37Chr 1, 215963510: 215963510
212USH2ANM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs)deletionPathogenicrs779791079GRCh37Chr 1, 215901562: 215901563
213RPGRNM_000328.2(RPGR): c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs)indelPathogenicrs796065331GRCh37Chr X, 38169990: 38170004
214CRB1NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs)deletionPathogenicrs794727980GRCh37Chr 1, 197404376: 197404376
215ZNF408ZNF408, 2-BP DEL, 358GTdeletionPathogenic
216ZNF408NM_024741.2(ZNF408): c.1621C> T (p.Arg541Cys)single nucleotide variantPathogenicrs781192528GRCh38Chr 11, 46705321: 46705321
217ARL6NM_032146.4(ARL6): c.266C> T (p.Ala89Val)single nucleotide variantPathogenicrs587777805GRCh38Chr 3, 97784966: 97784966
218RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
219EYSNM_001142800.1(EYS): c.6528C> A (p.Tyr2176Ter)single nucleotide variantPathogenicrs797045089GRCh37Chr 6, 64791792: 64791792
220EYSNM_001142800.1(EYS): c.881C> G (p.Ser294Ter)single nucleotide variantPathogenicrs752683070GRCh37Chr 6, 66115242: 66115242
221PROM1NM_006017.2(PROM1): c.1177_1178delAT (p.Ile393Argfs)deletionPathogenicrs746174328GRCh37Chr 4, 16010695: 16010696
222HGSNATNM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala)single nucleotide variantPathogenicrs797045120GRCh38Chr 8, 43158949: 43158949
223HGSNATNM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp)single nucleotide variantPathogenicrs754875934GRCh37Chr 8, 43013853: 43013853
224HGSNATNM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr)single nucleotide variantPathogenicrs112029032GRCh38Chr 8, 43199504: 43199504
225BBS2NM_031885.3(BBS2): c.98C> A (p.Ala33Asp)single nucleotide variantPathogenicrs797045155GRCh38Chr 16, 56519765: 56519765
226BBS2NM_031885.3(BBS2): c.401C> G (p.Pro134Arg)single nucleotide variantPathogenicrs376306240GRCh37Chr 16, 56545141: 56545141
227CNGB1CNGB1, PRO530ARGundetermined variantPathogenic
228CERKLNM_201548.4(CERKL): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs121909398GRCh37Chr 2, 182423344: 182423344
229NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe)single nucleotide variantPathogenicrs62625014GRCh37Chr 4, 47939552: 47939552
230CRB1NM_201253.2(CRB1): c.2227G> C (p.Val743Leu)single nucleotide variantLikely pathogenicGRCh37Chr 1, 197396682: 197396682
231MERTKNM_006343.2(MERTK): c.2192T> C (p.Leu731Ser)single nucleotide variantLikely pathogenicGRCh37Chr 2, 112779001: 112779001
232PDE6BNM_000283.3(PDE6B): c.1678C> Tsingle nucleotide variantPathogenicrs201541131GRCh38Chr 4, 662197: 662197
233USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
234USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
235USH2ANM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)insertionPathogenicrs587776538GRCh37Chr 1, 216595438: 216595439
236USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)single nucleotide variantPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
237USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
238CERKLNM_201548.4(CERKL): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs121909398GRCh37Chr 2, 182423344: 182423344
239TTC8NM_144596.3(TTC8): c.115-2A> Gsingle nucleotide variantPathogenicrs587777809GRCh38Chr 14, 88833691: 88833691
240BEST1NM_004183.3(BEST1): c.614T> C (p.Ile205Thr)single nucleotide variantPathogenicrs267606680GRCh37Chr 11, 61724448: 61724448
241BEST1NM_004183.3(BEST1): c.418C> G (p.Leu140Val)single nucleotide variantPathogenicrs267606678GRCh37Chr 11, 61723360: 61723360
242ZNF513NM_144631.5(ZNF513): c.1015T> C (p.Cys339Arg)single nucleotide variantPathogenicrs267607182GRCh37Chr 2, 27601023: 27601023
243MAKMAK, 353-BP ALU INS, EX9insertionPathogenic
244MAKMAK, GLY240TERsingle nucleotide variantPathogenic
245MAKNM_001242957.1(MAK): c.388A> C (p.Asn130His)single nucleotide variantPathogenicrs387906646GRCh37Chr 6, 10809146: 10809146
246MAKNM_001242957.1(MAK): c.37G> A (p.Gly13Ser)single nucleotide variantPathogenicrs387906647GRCh37Chr 6, 10830845: 10830845
247MAKNM_001242957.1(MAK): c.497G> A (p.Arg166His)single nucleotide variantPathogenicrs387906648GRCh37Chr 6, 10804119: 10804119
248RPE65RPE65, IVS1, G-A, +5single nucleotide variantPathogenic
249PDE6ANM_000440.2(PDE6A): c.2053G> A (p.Val685Met)single nucleotide variantPathogenicrs121909835GRCh37Chr 5, 149263074: 149263074
250CLRN1CLRN1, LEU154TRPsingle nucleotide variantPathogenic
251CLRN1NM_001195794.1(CLRN1): c.92C> T (p.Pro31Leu)single nucleotide variantPathogenicrs374390376GRCh37Chr 3, 150690404: 150690404
252PRPF8NM_006445.3(PRPF8): c.6353C> T (p.Ser2118Phe)single nucleotide variantPathogenicrs387906971GRCh37Chr 17, 1556852: 1556852
253PRPF8PRPF8, ARG2310SERsingle nucleotide variantPathogenic
254DHDDSNM_024887.3(DHDDS): c.124A> G (p.Lys42Glu)single nucleotide variantPathogenicrs147394623GRCh37Chr 1, 26764719: 26764719
255PRPF6NM_012469.3(PRPF6): c.2185C> T (p.Arg729Trp)single nucleotide variantPathogenicrs387907100GRCh37Chr 20, 62658491: 62658491
256C8orf37C8ORF37, IVS1, A-G, -2single nucleotide variantPathogenic
257C8orf37NM_177965.3(C8orf37): c.529C> T (p.Arg177Trp)single nucleotide variantPathogenicrs387907136GRCh37Chr 8, 96259940: 96259940
258RP9NM_203288.1(RP9): c.509A> G (p.Asp170Gly)single nucleotide variantPathogenicrs104894039GRCh37Chr 7, 33135003: 33135003
259PRPF3NM_004698.2(PRPF3): c.1481C> T (p.Thr494Met)single nucleotide variantPathogenicrs121434241GRCh37Chr 1, 150316692: 150316692
260PRPF3NM_004698.2(PRPF3): c.1477C> T (p.Pro493Ser)single nucleotide variantPathogenicrs121434242GRCh37Chr 1, 150316688: 150316688
261PRPF3NM_004698.2(PRPF3): c.1466C> A (p.Ala489Asp)single nucleotide variantPathogenicrs121434243GRCh37Chr 1, 150316677: 150316677
262PRPF8NM_006445.3(PRPF8): c.6926A> G (p.His2309Arg)single nucleotide variantPathogenicrs121434236GRCh37Chr 17, 1554178: 1554178
263PRPF8NM_006445.3(PRPF8): c.6926A> C (p.His2309Pro)single nucleotide variantPathogenicrs121434236GRCh37Chr 17, 1554178: 1554178
264PRPF8NM_006445.3(PRPF8): c.6929G> A (p.Arg2310Lys)single nucleotide variantPathogenicrs121434238GRCh37Chr 17, 1554175: 1554175
265PRPF8NM_006445.3(PRPF8): c.6901C> A (p.Pro2301Thr)single nucleotide variantPathogenicrs121434239GRCh37Chr 17, 1554203: 1554203
266PRPF8NM_006445.3(PRPF8): c.6912C> G (p.Phe2304Leu)single nucleotide variantPathogenicrs121434240GRCh37Chr 17, 1554192: 1554192
267FAM161ANM_001201543.1(FAM161A): c.685C> T (p.Arg229Ter)single nucleotide variantPathogenicrs267606794GRCh37Chr 2, 62067454: 62067454
268IMPG2NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter)single nucleotide variantPathogenicrs267606874GRCh37Chr 3, 100994538: 100994538
269IMPG2NM_016247.3(IMPG2): c.888-1554_908+274deldeletionPathogenicGRCh38Chr 3, 101267237: 101269085
270IMPG2NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter)single nucleotide variantPathogenicrs267606876GRCh37Chr 3, 100962459: 100962459
271IMPG2NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter)single nucleotide variantPathogenicrs267606875GRCh37Chr 3, 100961664: 100961664
272FAM161ANM_001201543.1(FAM161A): c.1355_1356delCA (p.Thr452Serfs)deletionPathogenicrs397704718GRCh37Chr 2, 62066783: 62066784
273NM_001077620.2(PRCD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs387907268GRCh37Chr 17, 74536287: 74536287
274MERTKMERTK, 9-KB DELdeletionPathogenic
275MERTKMERTK, IVS1, G-A, +1single nucleotide variantPathogenic
276MERTKMERTK, 91-KB DELdeletionPathogenic
277MERTKNM_006343.2(MERTK): c.2323C> T (p.Arg775Ter)single nucleotide variantPathogenicrs387907314GRCh37Chr 2, 112779132: 112779132
278FAM161ANM_001201543.1(FAM161A): c.1786C> T (p.Arg596Ter)single nucleotide variantPathogenicrs267606793GRCh37Chr 2, 62063210: 62063210
279NRLNM_006177.3(NRL): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs397514516GRCh37Chr 14, 24551771: 24551771
280SNRNP200NM_014014.4(SNRNP200): c.3269G> T (p.Arg1090Leu)single nucleotide variantPathogenicrs397514574GRCh37Chr 2, 96953697: 96953697
281SNRNP200NM_014014.4(SNRNP200): c.2653C> G (p.Gln885Glu)single nucleotide variantPathogenicrs397514575GRCh37Chr 2, 96956153: 96956153
282PRPF31NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs)deletionPathogenicrs587776589GRCh38Chr 19, 54128346: 54128356
283PRPF31NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro)single nucleotide variantPathogenicrs119475042GRCh37Chr 19, 54627246: 54627246
284PRPF31NM_015629.3(PRPF31): c.527+3A> Gsingle nucleotide variantPathogenicrs587776590GRCh38Chr 19, 54123563: 54123563
285PRPF31PRPF31, IVS6AS, 42-BP DEL, -3deletionPathogenic
286PRPF31NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu)single nucleotide variantPathogenicrs119475043GRCh37Chr 19, 54627181: 54627181
287PRPF31PRPF31, 33-BP INS, NT580insertionPathogenic
288PRPF31PRPF31, 1-BP INS, 769AinsertionPathogenic
289PRPF31PRPF31, 12-BP DELdeletionPathogenic
290PRPF31NM_015629.3(PRPF31): c.1374+654C> Gsingle nucleotide variantPathogenicrs587776591GRCh38Chr 19, 54130024: 54130024
291BBS2NM_031885.3(BBS2): c.311A> C (p.Asp104Ala)single nucleotide variantPathogenicrs121908179GRCh37Chr 16, 56548399: 56548399
292BBS2BBS2, ARG632PRO (rs138043021)undetermined variantPathogenic
293USH2ANM_206933.2(USH2A): c.12067-2A> Gsingle nucleotide variantPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
294USH2ANM_206933.2(USH2A): c.14287G> A (p.Gly4763Arg)single nucleotide variantLikely pathogenicrs397517990GRCh37Chr 1, 215823990: 215823990
295USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
296USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)single nucleotide variantPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
297RBP3NM_002900.2(RBP3): c.3238G> A (p.Asp1080Asn)single nucleotide variantPathogenicrs146150511GRCh37Chr 10, 48385854: 48385854
298EYSEYS, 17-BP DEL, NT2710deletionPathogenic
299EYSEYS, EX15-19 DELdeletionPathogenic
300EYSEYS, EX12 DELdeletionPathogenic
301EYSNM_001142800.1(EYS): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs137853189GRCh37Chr 6, 65146137: 65146137
302EYSNM_001142800.1(EYS): c.9405T> A (p.Tyr3135Ter)single nucleotide variantPathogenicrs137853190GRCh37Chr 6, 64430522: 64430522
303EYSEYS, 1-BP DELETION, 6714TdeletionPathogenic
304MERTKMERTK, 5-BP DEL, NT2070deletionPathogenic
305MERTKNM_006343.2(MERTK): c.1605-2A> Gsingle nucleotide variantPathogenicrs730880273GRCh37Chr 2, 112758776: 112758776
306MERTKNM_006343.2(MERTK): c.1951C> T (p.Arg651Ter)single nucleotide variantPathogenicrs119489105GRCh37Chr 2, 112766043: 112766043
307MERTKNM_006343.2(MERTK): c.2189+1G> Tsingle nucleotide variantPathogenicrs371956016GRCh37Chr 2, 112777100: 112777100
308IDH3BIDH3B, 1-BP DEL, 589AdeletionPathogenic
309IDH3BNM_006899.3(IDH3B): c.395T> C (p.Leu132Pro)single nucleotide variantPathogenicrs137853020GRCh37Chr 20, 2641558: 2641558
310NR2E3NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121912631GRCh37Chr 15, 72103870: 72103870
311NR2E3NR2E3, 5-BP DEL, NT1034deletionPathogenic
312PROM1PROM1, 1-BP DEL, 1878GdeletionPathogenic
313PROM1NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter)single nucleotide variantPathogenicrs137853005GRCh37Chr 4, 15995651: 15995651
314CRB1CRB1, ALU INS, NT2320insertionPathogenic
315CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
316RP1NM_006269.1(RP1): c.2029C> T (p.Arg677Ter)single nucleotide variantPathogenicrs104894082GRCh37Chr 8, 55538471: 55538471
317RP1RP1, 5-BP DELdeletionPathogenic
318RP1RP1, 4-BP DELdeletionPathogenic
319RP1NM_006269.1(RP1): c.2035C> T (p.Gln679Ter)single nucleotide variantPathogenicrs104894083GRCh37Chr 8, 55538477: 55538477
320RP1NM_006269.1(RP1): c.1118C> T (p.Thr373Ile)single nucleotide variantPathogenicrs77775126GRCh37Chr 8, 55537560: 55537560
321RP1RP1, 4-BP INS, 1461TGAAinsertionPathogenic
322ARL2BPARL2BP, IVS2AS, G-C, -1single nucleotide variantPathogenic
323TULP1NM_003322.4(TULP1): c.1471T> C (p.Phe491Leu)single nucleotide variantPathogenicrs121909074GRCh37Chr 6, 35467782: 35467782
324TULP1NM_003322.4(TULP1): c.1376T> A (p.Ile459Lys)single nucleotide variantPathogenicrs121909075GRCh37Chr 6, 35467877: 35467877
325TULP1TULP1, IVS2DS, G-A, +1single nucleotide variantPathogenic
326TULP1TULP1, IVS14DS, G-A, +1single nucleotide variantPathogenic
327TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
328TULP1NM_003322.4(TULP1): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs121909077GRCh37Chr 6, 35467809: 35467809
329TULP1TULP1, 11-BP DEL, NT1511deletionPathogenic
330TULP1TULP1, IVS7DS, T-C, +2single nucleotide variantPathogenic
331SNRNP200NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu)single nucleotide variantPathogenicrs267607077GRCh37Chr 2, 96953706: 96953706
332CNGB1NM_001297.4(CNGB1): c.2978G> T (p.Gly993Val)single nucleotide variantPathogenicrs121918532GRCh37Chr 16, 57931817: 57931817
333CNGB1CNGB1, IVS32DS, G-A, +1single nucleotide variantPathogenic
334RPGRNM_001034853.1(RPGR): c.2405_2406delAG (p.Glu802Glyfs)deletionPathogenicrs398122960GRCh37Chr X, 38145846: 38145847
335NEK2NM_001204182.1(NEK2): c.617_624delTGTATGAGinsA (p.Leu206Hisfs)indelPathogenicrs398122961GRCh37Chr 1, 211844558: 211844565
336CERKLNM_001030311.2(CERKL): c.420delT (p.Ile141Leufs)deletionPathogenicrs398122962GRCh37Chr 2, 182468625: 182468625
337CERKLNM_001030311.2(CERKL): c.598A> T (p.Lys200Ter)single nucleotide variantPathogenicrs398122963GRCh37Chr 2, 182438495: 182438495
338CERKLNM_001030311.2(CERKL): c.858delT (p.Pro287Leufs)deletionPathogenicrs398122964GRCh37Chr 2, 182423333: 182423333
339RGRRGR, 1-BP INSinsertionPathogenic
340RP1NM_006269.1(RP1): c.5019T> G (p.Tyr1673Ter)single nucleotide variantPathogenicrs398124220GRCh37Chr 8, 55541461: 55541461
341PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
342RPGRNM_000328.2(RPGR): c.469+1G> Asingle nucleotide variantLikely pathogenicrs62638646GRCh37Chr X, 38178081: 38178081
343RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520
344RPGRRPGR, 4-BP DEL, NT1433deletionPathogenic
345RPGRRPGR, IVS10DS, A-G, +3single nucleotide variantPathogenic
346RPGRRPGR, 2-BP DEL, 652AGdeletionPathogenic
347RPGRRPGR, 2-BP DEL, NT1571deletionPathogenic
348RPGRRPGR, EX15ADELdeletionPathogenic
349RPGRRPGR, 2-BP DEL, 673AGdeletionPathogenic
350RPGRNM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter)single nucleotide variantPathogenicrs137852549GRCh37Chr X, 38145602: 38145602
351RPGRRPGR, 1-BP INS, 173AinsertionPathogenic
352RPGRRPGR, 912G-Tsingle nucleotide variantPathogenic
353RPGRRPGR, IVS9AS, G-A, -55single nucleotide variantPathogenic

Expression for genes affiliated with Retinitis Pigmentosa

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Search GEO for disease gene expression data for Retinitis Pigmentosa.

Pathways for genes affiliated with Retinitis Pigmentosa

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Pathways related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.7PDE6B, RHO, RPE65

GO Terms for genes affiliated with Retinitis Pigmentosa

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Cellular components related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:000175011.2PDE6B, PRPH2, RHO, RP1, RPGR, TULP1
2photoreceptor disc membraneGO:009738111.1PDE6B, RHO
3U5 snRNPGO:000568211.0PRPF8, SNRNP200
4photoreceptor inner segmentGO:000191710.9RHO, RP1, TULP1, USH2A
5spliceosomal complexGO:000568110.8PRPF3, PRPF8, SNRNP200
6photoreceptor connecting ciliumGO:003239110.8RP1, RPGR, USH2A
7ciliary basal bodyGO:003606410.7RP2, RPGR, USH2A
8ciliumGO:000592910.7RP1, RPGR, TULP1
9periciliary membrane compartmentGO:199007510.6RP2, USH2A

Biological processes related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1retina development in camera-type eyeGO:006004111.3IMPDH1, PDE6B, PRPH2, RHO, RP1, RPE65
2regulation of rhodopsin gene expressionGO:000746811.2NRL, RPE65
3detection of light stimulusGO:000958311.2PDE6B, RHO
4retina morphogenesis in camera-type eyeGO:006004211.2RP1, RPE65, RPGR
5cellular response to light stimulusGO:007148211.2RHO, RP1, RPGR
6detection of light stimulus involved in visual perceptionGO:005090811.1EYS, RPE65, TULP1
7visual perceptionGO:000760111.1NRL, PDE6B, PRPH2, RHO, RP1, RP2
8RNA splicing, via transesterification reactionsGO:000037511.1PRPF3, PRPF8
9eye photoreceptor cell developmentGO:004246211.1CRB1, RPGR, TULP1
10retinal rod cell developmentGO:004654811.0NRL, RP1
11photoreceptor cell maintenanceGO:004549410.9RHO, RP1, TULP1, USH2A
12response to stimulusGO:005089610.9NRL, USH2A, ZNF513
13phototransduction, visible lightGO:000760310.8PDE6B, RHO, RP1, RPE65
14spliceosomal tri-snRNP complex assemblyGO:000024410.7PRPF3, PRPF8
15RNA splicingGO:000838010.6PRPF3, PRPF8, RP9, SNRNP200
16sensory perception of light stimulusGO:005095310.6RHO, USH2A

Sources for Retinitis Pigmentosa

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet