Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.320 GermlineCausalMutation ORPHANET In our study, we have identified recessive mutations in POMGNT1, which encodes an essential component in O-mannosylation pathway, in three unrelated families with autosomal recessive retinitis pigmentosa (RP), but without extraocular involvement. 26908613

2016