DisGeNET - a database of gene-disease associations

Long narrow head, C0221358

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:	7701
Gene Symbol:	ZNF142

ZNF142

0.100

Biomarker

disease

HPO

Entrez Id:	23414
Gene Symbol:	ZFPM2

ZFPM2

0.100

Biomarker

disease

HPO

Entrez Id:	7516
Gene Symbol:	XRCC2

XRCC2

0.100

Biomarker

disease

HPO

Entrez Id:	57539
Gene Symbol:	WDR35

WDR35

0.100

Biomarker

disease

HPO

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

0.100

Biomarker

disease

HPO

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	7421
Gene Symbol:	VDR

VDR

0.100

Biomarker

disease

HPO

Entrez Id:	55697
Gene Symbol:	VAC14

VAC14

0.100

Biomarker

disease

HPO

Entrez Id:	29089
Gene Symbol:	UBE2T

UBE2T

0.100

Biomarker

disease

HPO

Entrez Id:	7317
Gene Symbol:	UBA1

UBA1

0.100

Biomarker

disease

HPO

Entrez Id:	7291
Gene Symbol:	TWIST1

TWIST1

0.100

Biomarker

disease

HPO

Entrez Id:	4591
Gene Symbol:	TRIM37

TRIM37

0.100

Biomarker

disease

HPO

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

0.100

Biomarker

disease

HPO

Entrez Id:	7020
Gene Symbol:	TFAP2A

TFAP2A

0.100

Biomarker

disease

HPO

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:	6899
Gene Symbol:	TBX1

TBX1

0.100

Biomarker

disease

HPO

Entrez Id:	23118
Gene Symbol:	TAB2

TAB2

0.100

Biomarker

disease

HPO

Entrez Id:	6638
Gene Symbol:	SNRPN

SNRPN

0.100

Biomarker

disease

HPO

Entrez Id:	100033413
Gene Symbol:	SNORD116-1

SNORD116-1

0.100

Biomarker

disease

HPO

Entrez Id:	338433
Gene Symbol:	SNORD115-1

SNORD115-1

0.100

Biomarker

disease

HPO

Entrez Id:	9342
Gene Symbol:	SNAP29

SNAP29

0.100

Biomarker

disease

HPO

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

Biomarker

disease

HPO

Entrez Id:	84464
Gene Symbol:	SLX4

SLX4

0.100

Biomarker

disease

HPO

Entrez Id:	6536
Gene Symbol:	SLC6A9

SLC6A9

0.100

Biomarker

disease

HPO