Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.660 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.660 GermlineCausalMutation ORPHANET Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 17962469

2007