DisGeNET - a database of gene-disease associations

External genital hypoplasia, C1855333

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1968
Gene Symbol:	EIF2S3

EIF2S3

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

2017

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

0.100

Biomarker

phenotype

HPO

Entrez Id:	10806
Gene Symbol:	SDCCAG8

SDCCAG8

0.100

Biomarker

phenotype

HPO

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

0.100

Biomarker

phenotype

HPO

Entrez Id:	51715
Gene Symbol:	RAB23

RAB23

0.100

Biomarker

phenotype

HPO

Entrez Id:	242
Gene Symbol:	ALOX12B

ALOX12B

0.100

Biomarker

phenotype

HPO

Entrez Id:	59344
Gene Symbol:	ALOXE3

ALOXE3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4089
Gene Symbol:	SMAD4

SMAD4

0.100

Biomarker

phenotype

HPO

Entrez Id:	22930
Gene Symbol:	RAB3GAP1

RAB3GAP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1954
Gene Symbol:	MEGF8

MEGF8

0.100

Biomarker

phenotype

HPO

Entrez Id:	8818
Gene Symbol:	DPM2

DPM2

0.100

Biomarker

phenotype

HPO

Entrez Id:	84100
Gene Symbol:	ARL6

ARL6

0.100

Biomarker

phenotype

HPO

Entrez Id:	26227
Gene Symbol:	PHGDH

PHGDH

0.100

Biomarker

phenotype

HPO

Entrez Id:	11020
Gene Symbol:	IFT27

IFT27

0.100

Biomarker

phenotype

HPO

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5889
Gene Symbol:	RAD51C

RAD51C

0.100

Biomarker

phenotype

HPO

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

0.100

Biomarker

phenotype

HPO

Entrez Id:	129880
Gene Symbol:	BBS5

BBS5

0.100

Biomarker

phenotype

HPO

Entrez Id:	51763
Gene Symbol:	INPP5K

INPP5K

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9791
Gene Symbol:	PTDSS1

PTDSS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	64374
Gene Symbol:	SIL1

SIL1

0.100

Biomarker

phenotype

HPO