DisGeNET - a database of gene-disease associations

Short neck, C0521525

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Source: ALL

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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:	3265
Gene Symbol:	HRAS

HRAS

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	2312
Gene Symbol:	FLG

FLG

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6909
Gene Symbol:	TBX2

TBX2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	8942
Gene Symbol:	KYNU

KYNU

0.100

CausalMutation

phenotype

CLINVAR

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

2017

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	339400
Gene Symbol:	FLG-AS1

FLG-AS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	7020
Gene Symbol:	TFAP2A

TFAP2A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	112939
Gene Symbol:	NACC1

NACC1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	4621
Gene Symbol:	MYH3

MYH3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	2010
Gene Symbol:	EMD

EMD

0.100

Biomarker

phenotype

HPO

Entrez Id:	5718
Gene Symbol:	PSMD12

PSMD12

0.100

Biomarker

phenotype

HPO

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

0.100

Biomarker

phenotype

HPO

Entrez Id:	9895
Gene Symbol:	TECPR2

TECPR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	23363
Gene Symbol:	OBSL1

OBSL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	259232
Gene Symbol:	NALCN

NALCN

0.100

Biomarker

phenotype

HPO

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

0.100

Biomarker

phenotype

HPO

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

0.100

Biomarker

phenotype

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

0.100

Biomarker

phenotype

HPO