DisGeNET - a database of gene-disease associations

rs775141057, LOC100287944;POLR3B

N. diseases: 6

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.

Cerebellar Ataxia

CUI:	C0007758
Disease:	Cerebellar Ataxia

120

0.882

0.120

106496115

missense variant

C/A;T

snv

4.0E-06

2.1E-05

0.700

Cerebellar Hypoplasia

CUI:	C0266470
Disease:	Cerebellar Hypoplasia

0.882

0.120

106496115

missense variant

C/A;T

snv

4.0E-06

2.1E-05

0.700

Cerebellar hypoplasia with endosteal sclerosis

CUI:	C1859301
Disease:	Cerebellar hypoplasia with endosteal sclerosis

0.882

0.120

106496115

missense variant

C/A;T

snv

4.0E-06

2.1E-05

0.700

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM

CUI:	C3280644
Disease:	LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM

0.882

0.120

106496115

missense variant

C/A;T

snv

4.0E-06

2.1E-05

0.700

Oligodontia

CUI:	C4082304
Disease:	Oligodontia

0.882

0.120

106496115

missense variant

C/A;T

snv

4.0E-06

2.1E-05

0.700

Short stature

CUI:	C0349588
Disease:	Short stature

292

0.882

0.120

106496115

missense variant

C/A;T

snv

4.0E-06

2.1E-05

0.700