DisGeNET - a database of gene-disease associations

rs374356079, DYNC2LI1

N. diseases: 4

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.

Asphyxiating Thoracic Dystrophy 1

CUI:	C4551856
Disease:	Asphyxiating Thoracic Dystrophy 1

11

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

0.700

Polydactyly

CUI:	C0152427
Disease:	Polydactyly

43

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

0.700

Short ribs

CUI:	C0426817
Disease:	Short ribs

27

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

0.700

SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY

CUI:	C4310724
Disease:	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY

11

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

0.700