DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Nystagmus ×

Gene: ABHD12 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.400

CausalMutation

CLINVAR

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.400

Biomarker

HPO