DisGeNET - a database of gene-disease associations

Telecanthus, C0423113

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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:	60
Gene Symbol:	ACTB

ACTB

0.100

Biomarker

phenotype

HPO

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	170692
Gene Symbol:	ADAMTS18

ADAMTS18

0.100

Biomarker

phenotype

HPO

Entrez Id:	113179
Gene Symbol:	ADAT3

ADAT3

0.100

Biomarker

phenotype

HPO

Entrez Id:	10000
Gene Symbol:	AKT3

AKT3

0.100

Biomarker

phenotype

HPO

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

0.100

Biomarker

phenotype

HPO

Entrez Id:	60529
Gene Symbol:	ALX4

ALX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	56172
Gene Symbol:	ANKH

ANKH

0.100

Biomarker

phenotype

HPO

Entrez Id:	23141
Gene Symbol:	ANKLE2

ANKLE2

0.100

Biomarker

phenotype

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

Biomarker

phenotype

HPO

Entrez Id:	403
Gene Symbol:	ARL3

ARL3

0.100

Biomarker

phenotype

HPO

Entrez Id:	421
Gene Symbol:	ARVCF

ARVCF

0.100

Biomarker

phenotype

HPO

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	526
Gene Symbol:	ATP6V1B2

ATP6V1B2

0.100

Biomarker

phenotype

HPO

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

0.100

Biomarker

phenotype

HPO

Entrez Id:	11285
Gene Symbol:	B4GALT7

B4GALT7

0.100

Biomarker

phenotype

HPO

Entrez Id:	2186
Gene Symbol:	BPTF

BPTF

0.100

CausalMutation

phenotype

CLINVAR

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

2017

Entrez Id:	113246
Gene Symbol:	C12orf57

C12orf57

0.100

Biomarker

phenotype

HPO

Entrez Id:	26005
Gene Symbol:	C2CD3

C2CD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	894
Gene Symbol:	CCND2

CCND2

0.100

Biomarker

phenotype

HPO

Entrez Id:	92002
Gene Symbol:	CCNQ

CCNQ

0.100

Biomarker

phenotype

HPO

Entrez Id:	1009
Gene Symbol:	CDH11

CDH11

0.100

Biomarker

phenotype

HPO

Entrez Id:	8558
Gene Symbol:	CDK10

CDK10

0.100

Biomarker

phenotype

HPO

Entrez Id:	1146
Gene Symbol:	CHRNG

CHRNG

0.100

Biomarker

phenotype

HPO

Entrez Id:	113189
Gene Symbol:	CHST14

CHST14

0.100

Biomarker

phenotype

HPO