DisGeNET - a database of gene-disease associations

rs200649783, WDR35

N. diseases: 5

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

CUI:	C3279792
Disease:	SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

0.827

0.120

19969556

missense variant

C/A

snv

2.4E-05

2.8E-05

0.800

1.000

2011

2017

Jeune thoracic dystrophy

CUI:	C0265275
Disease:	Jeune thoracic dystrophy

116

0.827

0.120

19969556

missense variant

C/A

snv

2.4E-05

2.8E-05

0.700

Short Rib-Polydactyly Syndrome

CUI:	C0036996
Disease:	Short Rib-Polydactyly Syndrome

0.827

0.120

19969556

missense variant

C/A

snv

2.4E-05

2.8E-05

0.700

SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY

CUI:	C4694035
Disease:	SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY

0.827

0.120

19969556

missense variant

C/A

snv

2.4E-05

2.8E-05

0.700

SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC

CUI:	C4747658
Disease:	SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC

0.827

0.120

19969556

missense variant

C/A

snv

2.4E-05

2.8E-05

0.700