LCA5
MCID: LBR015
MIFTS: 37

Leber Congenital Amaurosis 5 (LCA5)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 5

MalaCards integrated aliases for Leber Congenital Amaurosis 5:

Name: Leber Congenital Amaurosis 5 57 11 73 28 12 5 71
Lca5 57 11 73 75
Leber Congenital Amaurosis, Type 5 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
progressive disease


Classifications:



External Ids:

Disease Ontology 11 DOID:0110215
OMIM® 57 604537
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
MedGen 40 C1858301
UMLS 71 C1858301

Summaries for Leber Congenital Amaurosis 5

UniProtKB/Swiss-Prot: 73 A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

MalaCards based summary: Leber Congenital Amaurosis 5, also known as lca5, is related to leber plus disease and fundus dystrophy. An important gene associated with Leber Congenital Amaurosis 5 is LCA5 (Lebercilin LCA5). Affiliated tissues include retina, eye and breast, and related phenotypes are nystagmus and visual impairment

Disease Ontology: 11 A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1.

Wikipedia: 75 Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by... more...

More information from OMIM: 604537 PS204000

Related Diseases for Leber Congenital Amaurosis 5

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 13
Leber Congenital Amaurosis 14 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 7 Leber Congenital Amaurosis 8
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 15
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 leber plus disease 11.1
2 fundus dystrophy 11.1
3 retinitis pigmentosa 11.0
4 cone-rod dystrophy 2 11.0
5 joubert syndrome 1 11.0
6 keratoconus 11.0
7 bardet-biedl syndrome 11.0
8 cone dystrophy 10.9
9 leber congenital amaurosis 3 10.9
10 leber congenital amaurosis 4 10.9
11 coloboma of macula 10.9
12 simpson-golabi-behmel syndrome, type 2 10.9
13 leber congenital amaurosis 9 10.9
14 leber congenital amaurosis 1 10.8
15 leber congenital amaurosis 2 10.8
16 meckel syndrome, type 1 10.8
17 senior-loken syndrome 1 10.8
18 retinitis pigmentosa 28 10.8
19 leber congenital amaurosis 12 10.8
20 leber congenital amaurosis 10 10.8
21 leber congenital amaurosis 13 10.8
22 leber congenital amaurosis 14 10.8
23 retinitis pigmentosa 54 10.8
24 leber congenital amaurosis 6 10.8
25 leber congenital amaurosis 7 10.8
26 leber congenital amaurosis 8 10.8
27 leber congenital amaurosis 11 10.8
28 leber congenital amaurosis 15 10.8
29 meckel syndrome, type 8 10.8
30 leber congenital amaurosis 16 10.8
31 cone-rod dystrophy 16 10.8
32 cone-rod dystrophy 18 10.8
33 cone-rod dystrophy 20 10.8
34 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 10.8
35 usher syndrome 10.8
36 congenital stationary night blindness 10.8
37 refractive amblyopia 10.8
38 nephronophthisis 10.8
39 achromatopsia 10.8
40 inherited retinal disorder 10.2
41 retinitis 10.1
42 pathologic nystagmus 10.1
43 progressive cone dystrophy 10.1
44 keratomalacia 10.0
45 peripheral retinal degeneration 10.0
46 retinal disease 10.0
47 retinal degeneration 10.0
48 ciliopathy 10.0
49 polydactyly, postaxial, type a1 9.9
50 joubert syndrome 10 9.9

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 5:



Diseases related to Leber Congenital Amaurosis 5

Symptoms & Phenotypes for Leber Congenital Amaurosis 5

Human phenotypes related to Leber Congenital Amaurosis 5:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 HP:0000639
2 visual impairment 30 HP:0000505
3 high hypermetropia 30 HP:0008499
4 visual loss 30 HP:0000572
5 hypermetropia 30 HP:0000540
6 undetectable electroretinogram 30 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
attenuated retinal vessels (in some patients)
atrophy of the retinal pigment epithelium
visual loss, congenital
high hyperopia
more

Clinical features from OMIM®:

604537 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leber Congenital Amaurosis 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label, Dose Exploration, Safety and Tolerability Study of a Subretinal Injection of an OPGx-001 Gene Vector to Participants With LCA5-Associated Inherited Retinal Degeneration (LCA5-IRD) Not yet recruiting NCT05616793 Phase 1, Phase 2

Search NIH Clinical Center for Leber Congenital Amaurosis 5

Genetic Tests for Leber Congenital Amaurosis 5

Genetic tests related to Leber Congenital Amaurosis 5:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 5 28 LCA5

Anatomical Context for Leber Congenital Amaurosis 5

Organs/tissues related to Leber Congenital Amaurosis 5:

MalaCards : Retina, Eye, Breast

Publications for Leber Congenital Amaurosis 5

Articles related to Leber Congenital Amaurosis 5:

(show all 47)
# Title Authors PMID Year
1
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 62 57 5
17546029 2007
2
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. 62 57 5
12642313 2003
3
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. 57 5
16123401 2005
4
A novel locus for Leber congenital amaurosis maps to chromosome 6q. 57 5
10631161 2000
5
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 62 5
32214227 2020
6
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 62 5
24474277 2014
7
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 62 5
23946133 2013
8
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. 62 5
21606596 2011
9
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. 62 5
19503738 2009
10
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. 62 5
18000884 2007
11
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62 5
20301475 2004
12
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
13
[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]. 57
13190865 1954
14
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. 62
36369640 2022
15
The interaction between LC8 and LCA5 reveals a novel oligomerization function of LC8 in the ciliary-centrosome system. 62
36114230 2022
16
Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign. 62
35713440 2022
17
The early-stage triple-negative breast cancer landscape derives a novel prognostic signature and therapeutic target. 62
35334008 2022
18
Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis. 62
35128149 2022
19
Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. 62
33957996 2021
20
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review. 62
33686777 2021
21
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis. 62
32428231 2020
22
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. 62
31348989 2019
23
Survival marker genes of colorectal cancer derived from consistent transcriptomic profiling. 62
30537927 2018
24
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness. 62
29673930 2018
25
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. 62
29400301 2018
26
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. 62
27067258 2016
27
Genetic modifiers of response to glucose-insulin-potassium (GIK) infusion in acute coronary syndromes and associations with clinical outcomes in the IMMEDIATE trial. 62
25778467 2015
28
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. 62
25775262 2015
29
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. 62
26352687 2015
30
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. 62
24144451 2014
31
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. 62
23661368 2013
32
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 62
21602930 2011
33
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. 62
21850168 2011
34
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 62
20079931 2010
35
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. 62
21488265 2010
36
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 62
20104588 2010
37
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). 62
20108395 2010
38
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. 62
20065226 2010
39
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 62
19800048 2009
40
Mutation survey of known LCA genes and loci in the Saudi Arabian population. 62
18936139 2009
41
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. 62
19172513 2009
42
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. 62
18826961 2009
43
Leber congenital amaurosis: genes, proteins and disease mechanisms. 62
18632300 2008
44
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. 62
18334959 2008
45
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. 62
16082399 2006
46
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 62
12567265 2002
47
COMSTAT rule for vigilance classification based on spontaneous EEG activity. 62
3627388 1987

Variations for Leber Congenital Amaurosis 5

ClinVar genetic disease variations for Leber Congenital Amaurosis 5:

5 (show top 50) (show all 170)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LCA5 and overlap with 1 gene(s) NM_181714.4(LCA5):c.0_-298+211del DEL Pathogenic
969 GRCh37: 6:80246622-80248219
GRCh38: 6:79536905-79538502
2 LCA5 NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) DEL Pathogenic
810630 rs1769845495 GRCh37: 6:80201335-80201341
GRCh38: 6:79491618-79491624
3 LCA5 NM_001122769.3(LCA5):c.93del (p.Gln31fs) DEL Pathogenic
978436 rs1766528592 GRCh37: 6:80228519-80228519
GRCh38: 6:79518802-79518802
4 LCA5 NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter) SNV Pathogenic
1323232 GRCh37: 6:80201341-80201341
GRCh38: 6:79491624-79491624
5 LCA5 NM_001122769.3(LCA5):c.527_529del (p.Arg176del) DEL Pathogenic
978438 rs1766311895 GRCh37: 6:80223120-80223122
GRCh38: 6:79513403-79513405
6 LCA5 NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs) INSERT Pathogenic
978439 rs1766311263 GRCh37: 6:80223113-80223114
GRCh38: 6:79513396-79513397
7 LCA5 NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter) SNV Pathogenic
978440 rs1766298401 GRCh37: 6:80223039-80223039
GRCh38: 6:79513322-79513322
8 LCA5 NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) DEL Pathogenic
978441 rs1769904494 GRCh37: 6:80203438-80203444
GRCh38: 6:79493721-79493727
9 LCA5 NM_001122769.3(LCA5):c.858+1G>C SNV Pathogenic
978442 rs753594556 GRCh37: 6:80203329-80203329
GRCh38: 6:79493612-79493612
10 LCA5 NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter) SNV Pathogenic
978443 rs1769761816 GRCh37: 6:80198846-80198846
GRCh38: 6:79489129-79489129
11 LCA5 NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) SNV Pathogenic
978444 rs1769706250 GRCh37: 6:80197329-80197329
GRCh38: 6:79487612-79487612
12 LCA5 NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) SNV Pathogenic
438153 rs866395428 GRCh37: 6:80203350-80203350
GRCh38: 6:79493633-79493633
13 LCA5 NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) SNV Pathogenic
641484 rs1268307330 GRCh37: 6:80197572-80197572
GRCh38: 6:79487855-79487855
14 LCA5 NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) SNV Pathogenic
960517 rs151017794 GRCh37: 6:80203425-80203425
GRCh38: 6:79493708-79493708
15 LCA5 NM_001122769.3(LCA5):c.1368dup (p.Glu457fs) DUP Pathogenic
1172715 GRCh37: 6:80197446-80197447
GRCh38: 6:79487729-79487730
16 LCA5 NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) SNV Pathogenic
968 rs121918165 GRCh37: 6:80203353-80203353
GRCh38: 6:79493636-79493636
17 LCA5 NM_001122769.3(LCA5):c.1151del (p.Pro384fs) DEL Pathogenic
966 rs386834252 GRCh37: 6:80198881-80198881
GRCh38: 6:79489164-79489164
18 LCA5 NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) DUP Pathogenic
967 rs386834253 GRCh37: 6:80197338-80197339
GRCh38: 6:79487621-79487622
19 LCA5 NM_001122769.3(LCA5):c.574dup (p.Thr192fs) DUP Pathogenic
374516 rs1057519136 GRCh37: 6:80223074-80223075
GRCh38: 6:79513357-79513358
20 LCA5 NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) SNV Likely Pathogenic
844114 rs748370008 GRCh37: 6:80228509-80228509
GRCh38: 6:79518792-79518792
21 LCA5 NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) SNV Likely Pathogenic
961285 rs772573829 GRCh37: 6:80197059-80197059
GRCh38: 6:79487342-79487342
22 LCA5 NM_001122769.3(LCA5):c.859-2A>G SNV Likely Pathogenic
1067727 GRCh37: 6:80202366-80202366
GRCh38: 6:79492649-79492649
23 LCA5 NM_001122769.3(LCA5):c.1545dup (p.Glu516fs) DUP Likely Pathogenic
978445 rs1769703329 GRCh37: 6:80197269-80197270
GRCh38: 6:79487552-79487553
24 LCA5 NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly) SNV Likely Pathogenic
978437 rs1766318937 GRCh37: 6:80223254-80223254
GRCh38: 6:79513537-79513537
25 LCA5 NM_001122769.3(LCA5):c.*1385T>C SNV Uncertain Significance
911094 rs553148047 GRCh37: 6:80195336-80195336
GRCh38: 6:79485619-79485619
26 LCA5 NM_001122769.3(LCA5):c.*1326A>G SNV Uncertain Significance
911095 rs568376970 GRCh37: 6:80195395-80195395
GRCh38: 6:79485678-79485678
27 LCA5 NM_001122769.3(LCA5):c.*1002A>G SNV Uncertain Significance
908317 rs930745321 GRCh37: 6:80195719-80195719
GRCh38: 6:79486002-79486002
28 LCA5 NM_001122769.3(LCA5):c.*958G>A SNV Uncertain Significance
908318 rs188791703 GRCh37: 6:80195763-80195763
GRCh38: 6:79486046-79486046
29 LCA5 NM_001122769.3(LCA5):c.*892A>G SNV Uncertain Significance
908319 rs139670091 GRCh37: 6:80195829-80195829
GRCh38: 6:79486112-79486112
30 LCA5 NM_001122769.3(LCA5):c.*838C>G SNV Uncertain Significance
908320 rs1341159813 GRCh37: 6:80195883-80195883
GRCh38: 6:79486166-79486166
31 LCA5 NM_001122769.3(LCA5):c.-191-6065C>A SNV Uncertain Significance
908457 rs79765454 GRCh37: 6:80234867-80234867
GRCh38: 6:79525150-79525150
32 LCA5 NM_001122769.3(LCA5):c.*763A>G SNV Uncertain Significance
909162 rs1769649594 GRCh37: 6:80195958-80195958
GRCh38: 6:79486241-79486241
33 LCA5 NM_001122769.3(LCA5):c.*719A>G SNV Uncertain Significance
909163 rs2292108 GRCh37: 6:80196002-80196002
GRCh38: 6:79486285-79486285
34 LCA5 NM_001122769.3(LCA5):c.*628T>G SNV Uncertain Significance
909164 rs1211696258 GRCh37: 6:80196093-80196093
GRCh38: 6:79486376-79486376
35 LCA5 NM_001122769.3(LCA5):c.*617T>C SNV Uncertain Significance
909165 rs573627037 GRCh37: 6:80196104-80196104
GRCh38: 6:79486387-79486387
36 LCA5 NM_001122769.3(LCA5):c.*497G>A SNV Uncertain Significance
909166 rs114346256 GRCh37: 6:80196224-80196224
GRCh38: 6:79486507-79486507
37 LCA5 NM_001122769.3(LCA5):c.-398G>T SNV Uncertain Significance
909299 rs370115829 GRCh37: 6:80247088-80247088
GRCh38: 6:79537371-79537371
38 LCA5 NM_001122769.3(LCA5):c.-400G>T SNV Uncertain Significance
909300 rs1194453509 GRCh37: 6:80247090-80247090
GRCh38: 6:79537373-79537373
39 LCA5 NM_001122769.3(LCA5):c.*1851A>G SNV Uncertain Significance
910196 rs1769610596 GRCh37: 6:80194870-80194870
GRCh38: 6:79485153-79485153
40 LCA5 NM_001122769.3(LCA5):c.*1777T>A SNV Uncertain Significance
910197 rs58717513 GRCh37: 6:80194944-80194944
GRCh38: 6:79485227-79485227
41 LCA5 NM_001122769.3(LCA5):c.*1261A>G SNV Uncertain Significance
911097 rs1769633494 GRCh37: 6:80195460-80195460
GRCh38: 6:79485743-79485743
42 LCA5 NM_001122769.3(LCA5):c.*464C>T SNV Uncertain Significance
911161 rs955948481 GRCh37: 6:80196257-80196257
GRCh38: 6:79486540-79486540
43 LCA5 NM_001122769.3(LCA5):c.*344T>C SNV Uncertain Significance
911162 rs571100363 GRCh37: 6:80196377-80196377
GRCh38: 6:79486660-79486660
44 LCA5 NM_001122769.3(LCA5):c.*91A>G SNV Uncertain Significance
911163 rs904422663 GRCh37: 6:80196630-80196630
GRCh38: 6:79486913-79486913
45 LCA5 NM_001122769.3(LCA5):c.*29G>T SNV Uncertain Significance
911164 rs534130467 GRCh37: 6:80196692-80196692
GRCh38: 6:79486975-79486975
46 LCA5 NM_001122769.3(LCA5):c.2033A>C (p.Lys678Thr) SNV Uncertain Significance
911165 rs1769680029 GRCh37: 6:80196782-80196782
GRCh38: 6:79487065-79487065
47 LCA5 NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala) SNV Uncertain Significance
911231 rs371429608 GRCh37: 6:80222999-80222999
GRCh38: 6:79513282-79513282
48 LCA5 NM_001122769.3(LCA5):c.488G>A (p.Arg163His) SNV Uncertain Significance
911232 rs189168054 GRCh37: 6:80223161-80223161
GRCh38: 6:79513444-79513444
49 LCA5 NM_001122769.3(LCA5):c.*1234A>C SNV Uncertain Significance
911300 rs1028375075 GRCh37: 6:80195487-80195487
GRCh38: 6:79485770-79485770
50 LCA5 NM_001122769.3(LCA5):c.*1232T>G SNV Uncertain Significance
911301 rs1278278130 GRCh37: 6:80195489-80195489
GRCh38: 6:79485772-79485772

Expression for Leber Congenital Amaurosis 5

Search GEO for disease gene expression data for Leber Congenital Amaurosis 5.

Pathways for Leber Congenital Amaurosis 5

GO Terms for Leber Congenital Amaurosis 5

Cellular components related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 8.92 LCA5L LCA5

Biological processes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intraciliary transport GO:0042073 8.92 LCA5L LCA5

Sources for Leber Congenital Amaurosis 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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