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:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

Biomarker

phenotype

HPO

Entrez Id:	84168
Gene Symbol:	ANTXR1

ANTXR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8905
Gene Symbol:	AP1S2

AP1S2

0.100

Biomarker

phenotype

HPO

Entrez Id:	324
Gene Symbol:	APC

APC

0.100

Biomarker

phenotype

HPO

Entrez Id:	170302
Gene Symbol:	ARX

ARX

0.100

Biomarker

phenotype

HPO

Entrez Id:	523
Gene Symbol:	ATP6V1A

ATP6V1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	148789
Gene Symbol:	B3GALNT2

B3GALNT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	145173
Gene Symbol:	B3GLCT

B3GLCT

0.100

Biomarker

phenotype

HPO

Entrez Id:	11041
Gene Symbol:	B4GAT1

B4GAT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	274
Gene Symbol:	BIN1

BIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	641
Gene Symbol:	BLM

BLM

0.100

Biomarker

phenotype

HPO

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:	818
Gene Symbol:	CAMK2G

CAMK2G

0.100

Biomarker

phenotype

HPO

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	83987
Gene Symbol:	CCDC8

CCDC8

0.100

Biomarker

phenotype

HPO

Entrez Id:	1139
Gene Symbol:	CHRNA7

CHRNA7

0.100

Biomarker

phenotype

HPO

Entrez Id:	113189
Gene Symbol:	CHST14

CHST14

0.100

Biomarker

phenotype

HPO

Entrez Id:	23529
Gene Symbol:	CLCF1

CLCF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7461
Gene Symbol:	CLIP2

CLIP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1213
Gene Symbol:	CLTC

CLTC

0.100

Biomarker

phenotype

HPO

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1282
Gene Symbol:	COL4A1

COL4A1

0.100

Biomarker

phenotype

HPO