RARA, retinoic acid receptor alpha, 5914

N. diseases: 274; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205678
rs786205678
Entrez Id: 5914
Gene Symbol: RARA
RARA
CUI: C0238207
Disease:
Ectopic kidney 		0.010 GeneticVariation BEFREE We describe a girl with a de novo mutation NM_000964 c.826C > T (p.Arg276Trp) in RARA with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). 31343737 2019
dbSNP: rs786205678
rs786205678
Entrez Id: 5914
Gene Symbol: RARA
RARA
CUI: C0009363
Disease:
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation BEFREE We describe a girl with a de novo mutation NM_000964 c.826C > T (p.Arg276Trp) in RARA with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). 31343737 2019
dbSNP: rs1403898124
rs1403898124
Entrez Id: 5914
Gene Symbol: RARA
RARA
CUI: C0023524
Disease:
Leukoencephalopathy, Progressive Multifocal 		0.010 GeneticVariation BEFREE Eight missense mutations (L211P, C213R, S214L, A216V, L217F, D219H, S221G, and D241G) were found in the PML portion of PML-RARA in 14 patients, with A216V as the predominant mutation. 26294332 2015
dbSNP: rs762374504
rs762374504
Entrez Id: 5914
Gene Symbol: RARA
RARA
CUI: C0023524
Disease:
Leukoencephalopathy, Progressive Multifocal 		0.010 GeneticVariation BEFREE Eight missense mutations (L211P, C213R, S214L, A216V, L217F, D219H, S221G, and D241G) were found in the PML portion of PML-RARA in 14 patients, with A216V as the predominant mutation. 26294332 2015