Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GermlineCausalMutation ORPHANET Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). 23849777

2013