Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C1837073
Disease: Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 		disease 0.710 None 1.000 2 0 2014 2014
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.300 None 1.000 1 0 2017 2017