DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Short stature ×

Gene: ATP5F1D ×

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:	513
Gene Symbol:	ATP5F1D

ATP5F1D

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

2018

Entrez Id:	513
Gene Symbol:	ATP5F1D

ATP5F1D

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO