rs138249161, POLR3B

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
0.710 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Oligodontia
CUI: C4082304
Disease: Oligodontia
0.700 CausalMutation CLINVAR
Cerebellar hypoplasia with endosteal sclerosis
CUI: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
0.700 CausalMutation CLINVAR
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
0.700 CausalMutation CLINVAR
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
0.700 CausalMutation CLINVAR
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
0.700 CausalMutation CLINVAR
Ataxia
CUI: C0004134
Disease: Ataxia
0.700 CausalMutation CLINVAR
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
0.710 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