DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Oligohydramnios ×

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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:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

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

29478781

2018

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

28017372

2017

Entrez Id:	8289
Gene Symbol:	ARID1A

ARID1A

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	2639
Gene Symbol:	GCDH

GCDH

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	6575
Gene Symbol:	SLC20A2

SLC20A2

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	79770
Gene Symbol:	TXNDC15

TXNDC15

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	4983
Gene Symbol:	OPHN1

OPHN1

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	5314
Gene Symbol:	PKHD1

PKHD1

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

GeneticVariation

CLINVAR

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.100

CausalMutation

CLINVAR