DisGeNET - a database of gene-disease associations

Sparse and thin eyebrow, C4282407

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:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

0.100

GeneticVariation

phenotype

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

2017

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

CausalMutation

phenotype

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

2016

Entrez Id:	9759
Gene Symbol:	HDAC4

HDAC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	1896
Gene Symbol:	EDA

EDA

0.100

Biomarker

phenotype

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	60529
Gene Symbol:	ALX4

ALX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	11005
Gene Symbol:	SPINK5

SPINK5

0.100

Biomarker

phenotype

HPO

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4763
Gene Symbol:	NF1

NF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10682
Gene Symbol:	EBP

EBP

0.100

Biomarker

phenotype

HPO

Entrez Id:	6023
Gene Symbol:	RMRP

RMRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	51360
Gene Symbol:	MBTPS2

MBTPS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6635
Gene Symbol:	SNRPE

SNRPE

0.100

Biomarker

phenotype

HPO

Entrez Id:	6234
Gene Symbol:	RPS28

RPS28

0.100

Biomarker

phenotype

HPO

Entrez Id:	121391
Gene Symbol:	KRT74

KRT74

0.100

Biomarker

phenotype

HPO

Entrez Id:	8085
Gene Symbol:	KMT2D

KMT2D

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5818
Gene Symbol:	NECTIN1

NECTIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25959
Gene Symbol:	KANK2

KANK2

0.100

Biomarker

phenotype

HPO

Entrez Id:	54345
Gene Symbol:	SOX18

SOX18

0.100

Biomarker

phenotype

HPO

Entrez Id:	10913
Gene Symbol:	EDAR

EDAR

0.100

Biomarker

phenotype

HPO

Entrez Id:	80326
Gene Symbol:	WNT10A

WNT10A

0.100

Biomarker

phenotype

HPO

Entrez Id:	6144
Gene Symbol:	RPL21

RPL21

0.100

Biomarker

phenotype

HPO

Entrez Id:	8815
Gene Symbol:	BANF1

BANF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3728
Gene Symbol:	JUP

JUP

0.100

Biomarker

phenotype

HPO