DisGeNET - a database of gene-disease associations

IMPDH1, inosine monophosphate dehydrogenase 1, 3614

N. diseases: 72; N. variants: 19

Disease: Amaurosis congenita of Leber, type 1 ×

Variant: rs121912554 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912554

Entrez Id:	3614
Gene Symbol:	IMPDH1

IMPDH1

CUI:	C2931258
Disease:

Amaurosis congenita of Leber, type 1

0.010

GeneticVariation

BEFREE

Two additional IMPDH1 variants, Arg105Trp and Asn198Lys, were found in two patients with isolated LCA.

16384941

2006