DisGeNET - a database of gene-disease associations

Sparse hair, C1837770

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:	2697
Gene Symbol:	GJA1

GJA1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	9091
Gene Symbol:	PIGQ

PIGQ

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	81857
Gene Symbol:	MED25

MED25

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6595
Gene Symbol:	SMARCA2

SMARCA2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

2006

Entrez Id:	617
Gene Symbol:	BCS1L

BCS1L

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

2006

Entrez Id:	81857
Gene Symbol:	MED25

MED25

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	59344
Gene Symbol:	ALOXE3

ALOXE3

0.100

Biomarker

phenotype

HPO

Entrez Id:	112802
Gene Symbol:	KRT71

KRT71

0.100

Biomarker

phenotype

HPO

Entrez Id:	8913
Gene Symbol:	CACNA1G

CACNA1G

0.100

Biomarker

phenotype

HPO

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

0.100

Biomarker

phenotype

HPO

Entrez Id:	10484
Gene Symbol:	SEC23A

SEC23A

0.100

Biomarker

phenotype

HPO

Entrez Id:	157570
Gene Symbol:	ESCO2

ESCO2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

0.100

Biomarker

phenotype

HPO

Entrez Id:	5073
Gene Symbol:	PARN

PARN

0.100

Biomarker

phenotype

HPO

Entrez Id:	126410
Gene Symbol:	CYP4F22

CYP4F22

0.100

Biomarker

phenotype

HPO

Entrez Id:	7518
Gene Symbol:	XRCC4

XRCC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	6023
Gene Symbol:	RMRP

RMRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	64840
Gene Symbol:	PORCN

PORCN

0.100

Biomarker

phenotype

HPO

Entrez Id:	242
Gene Symbol:	ALOX12B

ALOX12B

0.100

Biomarker

phenotype

HPO