Phenotype

Retinitis pigmentosa

MedGen: search
Saudi human-genetics coreAll Saudi-affiliated records

Overview

Term
retinitis pigmentosa
HPO
-
OMIM
-
In SaudiVarKB
88 articles, 88 mentions

Synonyms

None recorded

External resources

ClinVar ↗PubMed ↗
88Publications52Co-reported genes22Variants in these articles2Saudi regionsOpenLiterature network

Co-reported genes

Genes named in the same articles as retinitis pigmentosa. Co-mention, not a proven association.

GeneArticlesEvidence
RPGR5View sentences
PRPF313View sentences
RPE653View sentences
TULP13View sentences
AGBL52View sentences
CNGB12View sentences
EYS2View sentences
FLVCR12View sentences
MERTK2View sentences
MYO7A2View sentences
PRPF82View sentences
RP12View sentences
RPGRIP12View sentences
ABCA41View sentences
ACO21View sentences
ADGRV11View sentences
AR1View sentences
BBS91View sentences
CBL1View sentences
CD591View sentences
CDH161View sentences
CLRN11View sentences
CRB11View sentences
CRX1View sentences
DHX381View sentences

and 27 more

Variants in these articles

Variants reported in articles that mention retinitis pigmentosa; the gene is shown only when the link was confirmed by dbSNP or LitVar2.

VariantGeneArticles
R150Q-1
c.1219_1226del-1
c.1256G>A-1
c.198_199insA-1
c.2093_2104dupGCGACCTCATCT-1
c.2605A>T-1
c.3544_3545insAGAAAAGCTG-1
c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG-1
c.529C>T-1
c.6714delT-1
c.730-22_730-19dup-1
c.910_911insT-1
p.Ala486Asp-1
p.Arg125Trp-1
p.Arg177Trp-1
p.Arg361*-1
p.Gly868Asp-1
p.Lys869Ter-1
p.Pro429Leu-1
p.R651XMERTK1
p.S243XUSH1G1
p.Ser201Phe-1

Saudi regions

RegionArticles
Qassim1
Riyadh1