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:	2706
Gene Symbol:	GJB2

GJB2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1290
Gene Symbol:	COL5A2

COL5A2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	84231
Gene Symbol:	TRAF7

TRAF7

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5077
Gene Symbol:	PAX3

PAX3

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2517
Gene Symbol:	FUCA1

FUCA1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

0.100

GeneticVariation

phenotype

CLINVAR

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:	79876
Gene Symbol:	UBA5

UBA5

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

phenotype

HPO

Entrez Id:	202018
Gene Symbol:	TAPT1

TAPT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5295
Gene Symbol:	PIK3R1

PIK3R1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3756
Gene Symbol:	KCNH1

KCNH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2109
Gene Symbol:	ETFB

ETFB

0.100

Biomarker

phenotype

HPO

Entrez Id:	2296
Gene Symbol:	FOXC1

FOXC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3008
Gene Symbol:	H1-4

H1-4

0.100

Biomarker

phenotype

HPO

Entrez Id:	113179
Gene Symbol:	ADAT3

ADAT3

0.100

Biomarker

phenotype

HPO

Entrez Id:	5745
Gene Symbol:	PTH1R

PTH1R

0.100

Biomarker

phenotype

HPO