DisGeNET - a database of gene-disease associations

Protruding ear, C1855285

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:	1213
Gene Symbol:	CLTC

CLTC

0.100

Biomarker

phenotype

HPO

Entrez Id:	2131
Gene Symbol:	EXT1

EXT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55690
Gene Symbol:	PACS1

PACS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4540
Gene Symbol:	ND5

ND5

0.100

Biomarker

phenotype

HPO

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4038
Gene Symbol:	LRP4

LRP4

0.100

Biomarker

phenotype

HPO

Entrez Id:	145173
Gene Symbol:	B3GLCT

B3GLCT

0.100

Biomarker

phenotype

HPO

Entrez Id:	4512
Gene Symbol:	COX1

COX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2006
Gene Symbol:	ELN

ELN

0.100

Biomarker

phenotype

HPO

Entrez Id:	11041
Gene Symbol:	B4GAT1

B4GAT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

0.100

Biomarker

phenotype

HPO

Entrez Id:	523
Gene Symbol:	ATP6V1A

ATP6V1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	55624
Gene Symbol:	POMGNT1

POMGNT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2531
Gene Symbol:	KDSR

KDSR

0.100

Biomarker

phenotype

HPO

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	5831
Gene Symbol:	PYCR1

PYCR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10084
Gene Symbol:	PQBP1

PQBP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	113189
Gene Symbol:	CHST14

CHST14

0.100

Biomarker

phenotype

HPO

Entrez Id:	284252
Gene Symbol:	KCTD1

KCTD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54361
Gene Symbol:	WNT4

WNT4

0.100

Biomarker

phenotype

HPO

Entrez Id:	136647
Gene Symbol:	MPLKIP

MPLKIP

0.100

Biomarker

phenotype

HPO

Entrez Id:	2218
Gene Symbol:	FKTN

FKTN

0.100

Biomarker

phenotype

HPO

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	26608
Gene Symbol:	TBL2

TBL2

0.100

Biomarker

phenotype

HPO