DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Short distal phalanx of finger ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	4851
Gene Symbol:	NOTCH1

NOTCH1

notch receptor 1

0.369

0.885

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	55784
Gene Symbol:	MCTP2

MCTP2

multiple C2 and transmembrane domain containing 2

0.623

0.577

6.0E-52

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	5594
Gene Symbol:	MAPK1

MAPK1

mitogen-activated protein kinase 1

0.330

0.923

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	5744
Gene Symbol:	PTHLH

PTHLH

parathyroid hormone like hormone

0.453

0.846

0.81

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

TBC1 domain family member 24

0.530

0.808

1.3E-08

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

AT-rich interaction domain 1B

0.503

0.846

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	57514
Gene Symbol:	ARHGAP31

ARHGAP31

Rho GTPase activating protein 31

0.581

0.615

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	57539
Gene Symbol:	WDR35

WDR35

WD repeat domain 35

0.525

0.692

1.0E-22

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	57572
Gene Symbol:	DOCK6

DOCK6

dedicator of cytokinesis 6

0.610

0.577

1.3E-26

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	55764
Gene Symbol:	IFT122

IFT122

intraflagellar transport 122

0.560

0.846

2.4E-24

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	55650
Gene Symbol:	PIGV

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

0.636

0.615

1.5E-08

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	55081
Gene Symbol:	IFT57

IFT57

intraflagellar transport 57

0.716

0.308

3.3E-10

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	4853
Gene Symbol:	NOTCH2

NOTCH2

notch receptor 2

0.441

0.808

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	4920
Gene Symbol:	ROR2

ROR2

receptor tyrosine kinase like orphan receptor 2

0.498

0.731

1.2E-04

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	50515
Gene Symbol:	CHST11

CHST11

carbohydrate sulfotransferase 11

0.682

0.500

0.41

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	51098
Gene Symbol:	IFT52

IFT52

intraflagellar transport 52

0.653

0.538

2.0E-06

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	5116
Gene Symbol:	PCNT

PCNT

pericentrin

0.564

0.808

4.0E-58

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

actin like 6B

0.656

0.462

2.8E-04

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	51626
Gene Symbol:	DYNC2LI1

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

0.601

0.500

3.2E-09

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	54567
Gene Symbol:	DLL4

DLL4

delta like canonical Notch ligand 4

0.494

0.769

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

WD repeat domain 19

0.554

0.769

4.6E-11

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

transient receptor potential cation channel subfamily V member 4

0.457

0.808

2.2E-16

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	6926
Gene Symbol:	TBX3

TBX3

T-box transcription factor 3

0.525

0.769

0.99

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

transcriptional repressor GATA binding 1

0.537

0.769

1.00

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

growth differentiation factor 5

0.511

0.692

0.67

CUI:	C1839829
Disease:	Short distal phalanx of finger

Short distal phalanx of finger

phenotype

0.100

None