RP26
MCID: RTN055
MIFTS: 39

Retinitis Pigmentosa 26 (RP26)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 26

MalaCards integrated aliases for Retinitis Pigmentosa 26:

Name: Retinitis Pigmentosa 26 57 12 20 72 29 13 6 15 70
Rp26 57 12 72
Retinitis Pigmentosa, Type 26 39
Rp 26 20

Characteristics:

HPO:

31
retinitis pigmentosa 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110368
OMIM® 57 608380
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1842127
UMLS 70 C1842127

Summaries for Retinitis Pigmentosa 26

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 26: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 26, also known as rp26, is related to fundus dystrophy and cone-rod dystrophy 2. An important gene associated with Retinitis Pigmentosa 26 is CERKL (Ceramide Kinase Like), and among its related pathways/superpathways are Sphingolipid metabolism and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and optic disc pallor

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CERKL gene on chromosome 2q31.

More information from OMIM: 608380 PS268000

Related Diseases for Retinitis Pigmentosa 26

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 29.2 PDE6D ITGA4 CRYAA CNGB3 CNGB1 CERKL
2 cone-rod dystrophy 2 29.2 PDE6D ITGA4 CRYAA CNGB3 CNGB1 CERKL
3 retinitis pigmentosa 29.2 RLIM PDE6D ITGA4 CRYAA CNGB3 CNGB1
4 isolated macular dystrophy 10.3 ITGA4 CERKL
5 retinitis pigmentosa 14 10.2 CERKL AQR
6 retinitis pigmentosa 44 10.2 CNGB3 CDHR1
7 cone-rod dystrophy 15 10.2 CNGB1 CDHR1
8 retinitis pigmentosa 22 10.2 CRYAA CDHR1 AQR
9 retinitis pigmentosa 35 10.2 CNGB1 CDHR1
10 retinitis pigmentosa 29 10.2 CRYAA CNGB1 CERKL
11 pediatric multiple sclerosis 10.1 ORM1 ITGA4
12 achromatopsia 2 10.1 CNGB3 CNGB1
13 leber congenital amaurosis 2 10.1 CRYAA CNGB3
14 color blindness 10.1 CRYAA CNGB3 CNGB1
15 schistosoma mansoni infection, susceptibility/ 10.0
16 neuroretinitis 10.0
17 schistosomiasis 10.0
18 retinitis 10.0
19 stargardt disease 10.0 CNGB3 CERKL CDHR1
20 cone-rod dystrophy 6 10.0 PDE6D CNGB3 CNGB1
21 achromatopsia 10.0 CRYAA CNGB3 CNGB1
22 retinitis pigmentosa 25 10.0 CERKL CDHR1
23 eye degenerative disease 10.0 CRYAA CNGB3 CNGB1 CERKL
24 congenital stationary night blindness 10.0 CRYAA CNGB3 CNGB1 CERKL
25 hereditary sensory and autonomic neuropathy type 1 9.9 ORMDL3 ORMDL1 ORM1 CERK
26 yemenite deaf-blind hypopigmentation syndrome 9.9
27 kala-azar 1 9.9
28 leishmaniasis 9.9
29 retinal disease 9.9 CRYAA CNGB3 CNGB1 CERKL CDHR1
30 cone dystrophy 9.9 CRYAA CNGB3 CNGB1 CERKL CDHR1
31 usher syndrome 9.8 CNGB3 CNGB1 CERKL CDHR1
32 retinal degeneration 9.8 CRYAA CNGB1 CERKL CDHR1
33 leber plus disease 9.7 PDE6D CRYAA CNGB3 CNGB1 CERKL CDHR1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 26:



Diseases related to Retinitis Pigmentosa 26

Symptoms & Phenotypes for Retinitis Pigmentosa 26

Human phenotypes related to Retinitis Pigmentosa 26:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 optic disc pallor 31 HP:0000543
3 constriction of peripheral visual field 31 HP:0001133
4 attenuation of retinal blood vessels 31 HP:0007843
5 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

Clinical features from OMIM®:

608380 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.53 ITGA4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 ITGA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 AQR ITGA4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.53 AQR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.53 AQR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.53 ITGA4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.53 CRYAA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.53 CRYAA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.53 ITGA4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.53 CRYAA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.53 CRYAA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.53 AQR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.53 AQR
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.53 CRYAA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.53 CRYAA

Drugs & Therapeutics for Retinitis Pigmentosa 26

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 26

Genetic Tests for Retinitis Pigmentosa 26

Genetic tests related to Retinitis Pigmentosa 26:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 26 29 CERKL

Anatomical Context for Retinitis Pigmentosa 26

MalaCards organs/tissues related to Retinitis Pigmentosa 26:

40
Retina, Eye

Publications for Retinitis Pigmentosa 26

Articles related to Retinitis Pigmentosa 26:

(show all 29)
# Title Authors PMID Year
1
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 57 6 61
14681825 2004
2
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 57 6
24043777 2013
3
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
4
Identifying mutations in Tunisian families with retinal dystrophy. 6
27874104 2016
5
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. 57
9507394 1998
6
Dynamics of serological responses to defined recombinant proteins during Schistosoma mansoni infection in mice before and after the treatment with praziquantel. 61
32915790 2020
7
Visual Impairment and Blindness in Saudi Arabia's School for the Blind: A Cross-Sectional Study. 61
33117027 2020
8
Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa. 61
30324448 2019
9
Species-Specific Serological Detection for Schistosomiasis by Serine Protease Inhibitor (SERPIN) in Multiplex Assay. 61
26291988 2015
10
Use of heavy water (D2O) in developing thermostable recombinant p26 protein based enzyme-linked immunosorbent assay for serodiagnosis of equine infectious anemia virus infection. 61
24523642 2014
11
Development, evaluation, and laboratory validation of immunoassays for the diagnosis of equine infectious anemia (EIA) using recombinant protein produced from a synthetic p26 gene of EIA virus. 61
24426297 2013
12
Production of Equine Infectious Anemia Virus (EIAV) antigen in Pichia pastoris. 61
23603438 2013
13
Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene. 61
23142158 2013
14
Immunochromatographic lateral flow test for detection of antibodies to Equine infectious anemia virus. 61
20362005 2010
15
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. 61
20454696 2010
16
Immunogenicity of Bartonella henselae P26 in cats. 61
19500857 2009
17
P26-based serodiagnosis for Bartonella spp. infection in cats. 61
18724780 2008
18
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. 61
18515597 2008
19
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. 61
18978954 2008
20
Western blot assay using recombinant p26 antigen for detection of equine infectious anemia virus-specific antibodies. 61
17959820 2007
21
Standardization and validation of an agar gel immunodiffusion test for the diagnosis of equine infectious anemia using a recombinant p26 antigen. 61
17292568 2007
22
Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein. 61
16581028 2006
23
Detection of IgG binding to Schistosoma mansoni recombinant protein RP26 is a sensitive and specific method for acute schistosomiasis diagnosis. 61
15710554 2005
24
Serological differentiation of acute and chronic schistosomiasis using Schistosoma mansoni recombinant protein RP26. 61
14665383 2003
25
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. 61
12384283 2002
26
ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. 61
12093374 2002
27
Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. 61
11414766 2001
28
Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D). 61
10452952 1999
29
Cloning, expression, purification, and characterization of the major core protein (p26) from equine infectious anemia virus. 61
9165100 1997

Variations for Retinitis Pigmentosa 26

ClinVar genetic disease variations for Retinitis Pigmentosa 26:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CERKL NM_201548.5(CERKL):c.420del (p.Ile141fs) Deletion Pathogenic 91392 rs398122962 GRCh37: 2:182468625-182468625
GRCh38: 2:181603898-181603898
2 CERKL NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) SNV Pathogenic 91393 rs398122963 GRCh37: 2:182438495-182438495
GRCh38: 2:181573768-181573768
3 CERKL NM_201548.5(CERKL):c.780del (p.Pro261fs) Deletion Pathogenic 91394 rs398122964 GRCh37: 2:182423333-182423333
GRCh38: 2:181558606-181558606
4 CERKL NM_201548.5(CERKL):c.239-2A>G SNV Pathogenic 522512 rs776886395 GRCh37: 2:182468808-182468808
GRCh38: 2:181604081-181604081
5 CERKL , ITGA4 NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs) Duplication Pathogenic 522513 rs773497189 GRCh37: 2:182402955-182402956
GRCh38: 2:181538228-181538229
6 CERKL NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) SNV Pathogenic 280382 rs748394238 GRCh37: 2:182413468-182413468
GRCh38: 2:181548741-181548741
7 CERKL NM_201548.5(CERKL):c.967_968del (p.Met323fs) Deletion Pathogenic 236491 rs750151209 GRCh37: 2:182413512-182413513
GRCh38: 2:181548785-181548786
8 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) SNV Pathogenic 2364 rs121909398 GRCh37: 2:182423344-182423344
GRCh38: 2:181558617-181558617
9 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) SNV Pathogenic 2364 rs121909398 GRCh37: 2:182423344-182423344
GRCh38: 2:181558617-181558617
10 CERKL NM_201548.5(CERKL):c.197_200dup (p.Leu68fs) Microsatellite Pathogenic 1030978 GRCh37: 2:182521533-182521534
GRCh38: 2:181656806-181656807
11 CERKL NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) SNV Likely pathogenic 555316 rs1187839124 GRCh37: 2:182409489-182409489
GRCh38: 2:181544762-181544762
12 CERKL NM_201548.5(CERKL):c.1073+3_1073+6del Microsatellite Likely pathogenic 438052 rs1553513437 GRCh37: 2:182413401-182413404
GRCh38: 2:181548674-181548677
13 CERKL NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) SNV Likely pathogenic 438054 rs569826109 GRCh37: 2:182468729-182468729
GRCh38: 2:181604002-181604002
14 CERKL NM_201548.5(CERKL):c.2T>C (p.Met1Thr) SNV Likely pathogenic 665011 rs1187991259 GRCh37: 2:182521732-182521732
GRCh38: 2:181657005-181657005
15 CERKL NM_201548.5(CERKL):c.677+547G>A SNV Likely pathogenic 829909 rs1044562973 GRCh37: 2:182430238-182430238
GRCh38: 2:181565511-181565511
16 CERKL NM_201548.5(CERKL):c.677+3A>G SNV Likely pathogenic 523394 rs1553515435 GRCh37: 2:182430782-182430782
GRCh38: 2:181566055-181566055
17 CERKL NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) SNV Likely pathogenic 801838 rs1003615909 GRCh37: 2:182468689-182468689
GRCh38: 2:181603962-181603962
18 CERKL NM_201548.5(CERKL):c.481+2T>G SNV Conflicting interpretations of pathogenicity 523393 rs753994107 GRCh37: 2:182468562-182468562
GRCh38: 2:181603835-181603835
19 CERKL NM_201548.5(CERKL):c.553G>C (p.Val185Leu) SNV Uncertain significance 849055 GRCh37: 2:182438540-182438540
GRCh38: 2:181573813-181573813
20 CERKL NM_201548.5(CERKL):c.1160-10T>G SNV Uncertain significance 851376 GRCh37: 2:182412463-182412463
GRCh38: 2:181547736-181547736
21 CERKL NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) SNV Uncertain significance 166845 rs727503856 GRCh37: 2:182413446-182413446
GRCh38: 2:181548719-181548719
22 CERKL NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu) SNV Uncertain significance 812037 rs144793035 GRCh37: 2:182412421-182412421
GRCh38: 2:181547694-181547694
23 CERKL NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) SNV Uncertain significance 166847 rs151110889 GRCh37: 2:182438504-182438504
GRCh38: 2:181573777-181573777
24 CERKL NM_201548.5(CERKL):c.184G>T (p.Val62Leu) SNV Uncertain significance 812058 rs1574077394 GRCh37: 2:182521550-182521550
GRCh38: 2:181656823-181656823
25 CERKL NM_201548.5(CERKL):c.97T>G (p.Leu33Val) SNV Uncertain significance 764355 rs554167374 GRCh37: 2:182521637-182521637
GRCh38: 2:181656910-181656910
26 CERKL NM_201548.5(CERKL):c.820+10T>C SNV Uncertain significance 797940 rs777113677 GRCh37: 2:182423283-182423283
GRCh38: 2:181558556-181558556
27 CERKL NM_201548.5(CERKL):c.540A>G (p.Lys180=) SNV Uncertain significance 750313 rs149505471 GRCh37: 2:182438553-182438553
GRCh38: 2:181573826-181573826
28 CERKL NM_201548.5(CERKL):c.613+4_613+5del Deletion Uncertain significance 438055 rs766131721 GRCh37: 2:182438475-182438476
GRCh38: 2:181573748-181573749
29 CERKL NM_201548.5(CERKL):c.365T>G (p.Leu122Arg) SNV Uncertain significance 522299 rs558913945 GRCh37: 2:182468680-182468680
GRCh38: 2:181603953-181603953
30 CERKL NM_201548.5(CERKL):c.1368C>T (p.Phe456=) SNV Uncertain significance 991254 GRCh37: 2:182403989-182403989
GRCh38: 2:181539262-181539262
31 CERKL NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) SNV Uncertain significance 991255 GRCh37: 2:182413531-182413531
GRCh38: 2:181548804-181548804
32 CERKL NM_201548.5(CERKL):c.830A>G (p.Asn277Ser) SNV Uncertain significance 972660 GRCh37: 2:182414426-182414426
GRCh38: 2:181549699-181549699
33 CERKL NM_201548.5(CERKL):c.34G>A (p.Ala12Thr) SNV Uncertain significance 843395 GRCh37: 2:182521700-182521700
GRCh38: 2:181656973-181656973
34 CERKL NM_201548.5(CERKL):c.314G>A (p.Arg105Gln) SNV Uncertain significance 972617 GRCh37: 2:182468731-182468731
GRCh38: 2:181604004-181604004
35 CERKL NM_201548.5(CERKL):c.129C>T (p.Ala43=) SNV Uncertain significance 991578 GRCh37: 2:182521605-182521605
GRCh38: 2:181656878-181656878
36 CERKL NM_201548.5(CERKL):c.41A>G (p.Glu14Gly) SNV Uncertain significance 991579 GRCh37: 2:182521693-182521693
GRCh38: 2:181656966-181656966
37 CERKL NM_201548.5(CERKL):c.1064C>A (p.Ala355Glu) SNV Uncertain significance 852913 GRCh37: 2:182413416-182413416
GRCh38: 2:181548689-181548689
38 CERKL NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) SNV Likely benign 393046 rs141389059 GRCh37: 2:182521577-182521577
GRCh38: 2:181656850-181656850
39 CERKL NM_201548.5(CERKL):c.102G>T (p.Thr34=) SNV Likely benign 781951 rs149346187 GRCh37: 2:182521632-182521632
GRCh38: 2:181656905-181656905
40 CERKL NM_201548.5(CERKL):c.699T>C (p.Asp233=) SNV Likely benign 991577 GRCh37: 2:182423414-182423414
GRCh38: 2:181558687-181558687
41 CERKL NM_201548.5(CERKL):c.66C>G (p.Pro22=) SNV Likely benign 193520 rs199762900 GRCh37: 2:182521668-182521668
GRCh38: 2:181656941-181656941
42 CERKL NM_201548.5(CERKL):c.327T>G (p.Val109=) SNV Likely benign 799969 rs907281117 GRCh37: 2:182468718-182468718
GRCh38: 2:181603991-181603991
43 CERKL NM_201548.5(CERKL):c.27G>A (p.Arg9=) SNV Likely benign 193519 rs368855330 GRCh37: 2:182521707-182521707
GRCh38: 2:181656980-181656980
44 CERKL NM_201548.5(CERKL):c.820+9G>A SNV Likely benign 198113 rs189638090 GRCh37: 2:182423284-182423284
GRCh38: 2:181558557-181558557
45 CERKL NM_201548.5(CERKL):c.735G>C (p.Leu245=) SNV Likely benign 333009 rs140898616 GRCh37: 2:182423378-182423378
GRCh38: 2:181558651-181558651
46 CERKL NM_201548.5(CERKL):c.895+3A>G SNV Benign 257151 rs12623687 GRCh37: 2:182414358-182414358
GRCh38: 2:181549631-181549631
47 CERKL NM_201548.5(CERKL):c.298T>G (p.Ser100Ala) SNV Benign 715564 rs34753159 GRCh37: 2:182468747-182468747
GRCh38: 2:181604020-181604020
48 CERKL NM_201548.5(CERKL):c.199G>A (p.Ala67Thr) SNV Benign 333014 rs61733527 GRCh37: 2:182521535-182521535
GRCh38: 2:181656808-181656808
49 CERKL NM_201548.5(CERKL):c.896-18T>A SNV Benign 166846 rs13003064 GRCh37: 2:182413602-182413602
GRCh38: 2:181548875-181548875
50 CERKL NM_201548.5(CERKL):c.239-12T>A SNV Benign 166848 rs6433923 GRCh37: 2:182468818-182468818
GRCh38: 2:181604091-181604091

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 26:

72
# Symbol AA change Variation ID SNP ID
1 CERKL p.Arg106Ser VAR_065182 rs569826109

Expression for Retinitis Pigmentosa 26

Search GEO for disease gene expression data for Retinitis Pigmentosa 26.

Pathways for Retinitis Pigmentosa 26

Pathways related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 ORMDL3 ORMDL2 ORMDL1 CERK
2 11.1 PDE6D CNGB3 CNGB1

GO Terms for Retinitis Pigmentosa 26

Cellular components related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.33 CNGB3 CNGB1 CERKL
2 small ribosomal subunit GO:0015935 9.26 RPS26 RPS23
3 transmembrane transporter complex GO:1902495 8.96 CNGB3 CNGB1
4 SPOTS complex GO:0035339 8.8 ORMDL3 ORMDL2 ORMDL1

Biological processes related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 PDE6D CRYAA CNGB3 CNGB1
2 lipid phosphorylation GO:0046834 9.4 CERKL CERK
3 photoreceptor cell outer segment organization GO:0035845 9.37 CNGB1 CDHR1
4 cellular sphingolipid homeostasis GO:0090156 9.33 ORMDL3 ORMDL2 ORMDL1
5 negative regulation of sphingolipid biosynthetic process GO:0090155 9.26 ORMDL2 ORMDL1
6 negative regulation of ceramide biosynthetic process GO:1900060 9.13 ORMDL3 ORMDL2 ORMDL1
7 ceramide metabolic process GO:0006672 8.92 ORMDL3 ORMDL2 ORMDL1 CERK

Molecular functions related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.32 CNGB3 CNGB1
2 NAD+ kinase activity GO:0003951 9.26 CERKL CERK
3 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGB1
4 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGB1
5 lipid kinase activity GO:0001727 8.62 CERKL CERK

Sources for Retinitis Pigmentosa 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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