DisGeNET - a database of gene-disease associations

Prominent supraorbital ridges, C1842060

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:	2186
Gene Symbol:	BPTF

BPTF

0.100

GeneticVariation

phenotype

CLINVAR

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

2017

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	3764
Gene Symbol:	KCNJ8

KCNJ8

0.100

Biomarker

phenotype

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

phenotype

HPO

Entrez Id:	81887
Gene Symbol:	LAS1L

LAS1L

0.100

Biomarker

phenotype

HPO

Entrez Id:	23133
Gene Symbol:	PHF8

PHF8

0.100

Biomarker

phenotype

HPO

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	284119
Gene Symbol:	CAVIN1

CAVIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	5468
Gene Symbol:	PPARG

PPARG

0.100

Biomarker

phenotype

HPO

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

0.100

Biomarker

phenotype

HPO

Entrez Id:	55869
Gene Symbol:	HDAC8

HDAC8

0.100

Biomarker

phenotype

HPO

Entrez Id:	2892
Gene Symbol:	GRIA3

GRIA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	4983
Gene Symbol:	OPHN1

OPHN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5295
Gene Symbol:	PIK3R1

PIK3R1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1896
Gene Symbol:	EDA

EDA

0.100

Biomarker

phenotype

HPO

Entrez Id:	27316
Gene Symbol:	RBMX

RBMX

0.100

Biomarker

phenotype

HPO

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6925
Gene Symbol:	TCF4

TCF4

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	170302
Gene Symbol:	ARX

ARX

0.100

Biomarker

phenotype

HPO

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

0.100

Biomarker

phenotype

HPO

Entrez Id:	2353
Gene Symbol:	FOS

FOS

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

CausalMutation

phenotype

CLINVAR