POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608688
rs267608688
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267608689
rs267608689
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		G 0.700 CausalMutation CLINVAR
dbSNP: rs751459271
rs751459271
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs753943393
rs753943393
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		A 0.700 CausalMutation CLINVAR
dbSNP: rs774526181
rs774526181
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs774526181
rs774526181
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs774526181
rs774526181
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0342384
Disease:
Idiopathic hypogonadotropic hypogonadism 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs775141057
rs775141057
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C0266470
Disease:
Cerebellar Hypoplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775141057
rs775141057
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C0007758
Disease:
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775141057
rs775141057
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		A 0.700 CausalMutation CLINVAR
dbSNP: rs775141057
rs775141057
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C0349588
Disease:
Short stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775141057
rs775141057
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C4082304
Disease:
Oligodontia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775141057
rs775141057
Entrez Id: 55703;100287944
Gene Symbol: POLR3B;LOC100287944
POLR3B;LOC100287944
CUI: C1859301
Disease:
Cerebellar hypoplasia with endosteal sclerosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797045895
rs797045895
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs780148992
rs780148992
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0023520
Disease:
Leukodystrophy 		0.010 GeneticVariation BEFREE To determine if other POLR3-HLD mutations can cause a leukodystrophy phenotype in mouse, we characterized mice carrying the Polr3b mutation c.308G > A (p.Arg103His). 31221184 2019
dbSNP: rs755312623
rs755312623
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.010 GeneticVariation BEFREE We report on the clinical, neuroradiological and endocrinological follow-up of a male affected by 4H syndrome with confirmed POLR3B mutations (c.1568 T > A/p.V523E variant in exon 15 and the novel c.1988C > T/p.T663I mutation in exon 19). 26204956 2015