DisGeNET - a database of gene-disease associations

Long narrow head, C0221358

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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:	23314
Gene Symbol:	SATB2

SATB2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	2475
Gene Symbol:	MTOR

MTOR

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	5351
Gene Symbol:	PLOD1

PLOD1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	7020
Gene Symbol:	TFAP2A

TFAP2A

0.100

CausalMutation

disease

CLINVAR

A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

2015

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

0.110

Biomarker

disease

HPO

Entrez Id:	23118
Gene Symbol:	TAB2

TAB2

0.100

Biomarker

disease

HPO

Entrez Id:	11253
Gene Symbol:	MAN1B1

MAN1B1

0.100

Biomarker

disease

HPO

Entrez Id:	1146
Gene Symbol:	CHRNG

CHRNG

0.100

Biomarker

disease

HPO

Entrez Id:	6638
Gene Symbol:	SNRPN

SNRPN

0.100

Biomarker

disease

HPO

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

0.100

Biomarker

disease

HPO

Entrez Id:	5192
Gene Symbol:	PEX10

PEX10

0.100

Biomarker

disease

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

Biomarker

disease

HPO

Entrez Id:	6899
Gene Symbol:	TBX1

TBX1

0.100

Biomarker

disease

HPO

Entrez Id:	84464
Gene Symbol:	SLX4

SLX4

0.100

Biomarker

disease

HPO

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

0.100

Biomarker

disease

HPO

Entrez Id:	10765
Gene Symbol:	KDM5B

KDM5B

0.100

Biomarker

disease

HPO

Entrez Id:	10108
Gene Symbol:	MKRN3-AS1

MKRN3-AS1

0.100

Biomarker

disease

HPO

Entrez Id:	5828
Gene Symbol:	PEX2

PEX2

0.100

Biomarker

disease

HPO

Entrez Id:	55780
Gene Symbol:	ERMARD

ERMARD

0.100

Biomarker

disease

HPO