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:	26154
Gene Symbol:	ABCA12

ABCA12

0.100

Biomarker

phenotype

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

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:	57514
Gene Symbol:	ARHGAP31

ARHGAP31

0.100

Biomarker

phenotype

HPO

Entrez Id:	23545
Gene Symbol:	ATP6V0A2

ATP6V0A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	523
Gene Symbol:	ATP6V1A

ATP6V1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	529
Gene Symbol:	ATP6V1E1

ATP6V1E1

0.100

Biomarker

phenotype

HPO

Entrez Id:	538
Gene Symbol:	ATP7A

ATP7A

0.100

Biomarker

phenotype

HPO

Entrez Id:	126792
Gene Symbol:	B3GALT6

B3GALT6

0.100

Biomarker

phenotype

HPO

Entrez Id:	63035
Gene Symbol:	BCORL1

BCORL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	617
Gene Symbol:	BCS1L

BCS1L

0.100

CausalMutation

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:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

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:	672
Gene Symbol:	BRCA1

BRCA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2972
Gene Symbol:	BRF1

BRF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8913
Gene Symbol:	CACNA1G

CACNA1G

0.100

Biomarker

phenotype

HPO

Entrez Id:	867
Gene Symbol:	CBL

CBL

0.100

Biomarker

phenotype

HPO

Entrez Id:	999
Gene Symbol:	CDH1

CDH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	80169
Gene Symbol:	CTC1

CTC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	126410
Gene Symbol:	CYP4F22

CYP4F22

0.100

Biomarker

phenotype

HPO

Entrez Id:	80067
Gene Symbol:	DCAF17

DCAF17

0.100

Biomarker

phenotype

HPO

Entrez Id:	1736
Gene Symbol:	DKC1

DKC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54567
Gene Symbol:	DLL4

DLL4

0.100

Biomarker

phenotype

HPO