DisGeNET - a database of gene-disease associations

rs1260978141, DYNC2H1

N. diseases: 8

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.

Aplasia/Hypoplasia involving the pelvis

CUI:	C4024597
Disease:	Aplasia/Hypoplasia involving the pelvis

13

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Bell-shaped thorax

CUI:	C1865186
Disease:	Bell-shaped thorax

7

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Femoral bowing

CUI:	C1859461
Disease:	Femoral bowing

13

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Hip joint varus deformity - observation

CUI:	C0239138
Disease:	Hip joint varus deformity - observation

2

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Jeune thoracic dystrophy

CUI:	C0265275
Disease:	Jeune thoracic dystrophy

116

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Metaphyseal widening

CUI:	C1849039
Disease:	Metaphyseal widening

3

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Short long bone

CUI:	C1854912
Disease:	Short long bone

19

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

Short ribs

CUI:	C0426817
Disease:	Short ribs

27

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700