DisGeNET - a database of gene-disease associations

rs104894474, RDH12;GPHN

N. diseases: 2

Disease: LEBER CONGENITAL AMAUROSIS 13 ×

Source: CLINVAR ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

LEBER CONGENITAL AMAUROSIS 13

CUI:	C2675186
Disease:	LEBER CONGENITAL AMAUROSIS 13

0.700

CausalMutation

CLINVAR

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

26355662

2016

LEBER CONGENITAL AMAUROSIS 13

CUI:	C2675186
Disease:	LEBER CONGENITAL AMAUROSIS 13

0.700

CausalMutation

CLINVAR

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

17389517

2007

LEBER CONGENITAL AMAUROSIS 13

CUI:	C2675186
Disease:	LEBER CONGENITAL AMAUROSIS 13

0.700

CausalMutation

CLINVAR

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

15322982

2004