DisGeNET - a database of gene-disease associations

rs864309499, ACO2;POLR3H

N. diseases: 9

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.

Appendicular hypotonia

CUI:	C4022919
Disease:	Appendicular hypotonia

8

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Arachnoid Cysts

CUI:	C0078981
Disease:	Arachnoid Cysts

6

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Ataxia, Truncal

CUI:	C0427190
Disease:	Ataxia, Truncal

13

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Downward slant of palpebral fissure

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

49

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Frontal bossing

CUI:	C0221354
Disease:	Frontal bossing

22

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

553

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

INFANTILE CEREBELLAR-RETINAL DEGENERATION

CUI:	C3281192
Disease:	INFANTILE CEREBELLAR-RETINAL DEGENERATION

7

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Myoclonic spasms

CUI:	C3806442
Disease:	Myoclonic spasms

2

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700

Sensorineural hearing loss, bilateral

CUI:	C0452138
Disease:	Sensorineural hearing loss, bilateral

30

0.827

0.240

22

41526319

missense variant

C/T

snv

4.0E-06

0.700