DisGeNET - a database of gene-disease associations

Ulnar polydactyly of fingers, C0431904

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:	2737
Gene Symbol:	GLI3

GLI3

0.100

CausalMutation

disease

CLINVAR

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

2017

Entrez Id:	727857
Gene Symbol:	BHLHA9

BHLHA9

0.100

Biomarker

disease

HPO

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

0.100

Biomarker

disease

HPO

Entrez Id:	132884
Gene Symbol:	EVC2

EVC2

0.100

Biomarker

disease

HPO

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

disease

HPO

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.100

Biomarker

disease

HPO

Entrez Id:	2239
Gene Symbol:	GPC4

GPC4

0.100

Biomarker

disease

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

disease

HPO

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

0.100

Biomarker

disease

HPO

Entrez Id:	894
Gene Symbol:	CCND2

CCND2

0.100

Biomarker

disease

HPO

Entrez Id:	54499
Gene Symbol:	TMCO1

TMCO1

0.100

Biomarker

disease

HPO

Entrez Id:	27241
Gene Symbol:	BBS9

BBS9

0.100

Biomarker

disease

HPO

Entrez Id:	11020
Gene Symbol:	IFT27

IFT27

0.100

Biomarker

disease

HPO

Entrez Id:	26123
Gene Symbol:	TCTN3

TCTN3

0.100

Biomarker

disease

HPO

Entrez Id:	89891
Gene Symbol:	WDR34

WDR34

0.100

Biomarker

disease

HPO

Entrez Id:	7700
Gene Symbol:	ZNF141

ZNF141

0.100

Biomarker

disease

HPO

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

Biomarker

disease

HPO

Entrez Id:	57539
Gene Symbol:	WDR35

WDR35

0.100

Biomarker

disease

HPO

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	3930
Gene Symbol:	LBR

LBR

0.100

Biomarker

disease

HPO

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

0.100

Biomarker

disease

HPO

Entrez Id:	64327
Gene Symbol:	LMBR1

LMBR1

0.100

Biomarker

disease

HPO

Entrez Id:	585
Gene Symbol:	BBS4

BBS4

0.100

Biomarker

disease

HPO

Entrez Id:	57560
Gene Symbol:	IFT80

IFT80

0.100

Biomarker

disease

HPO

Entrez Id:	166379
Gene Symbol:	BBS12

BBS12

0.100

Biomarker

disease

HPO