rs587777333, QARS1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
0.800 GeneticVariation UNIPROT The crystal structure of human GlnRS provides basis for the development of neurological disorders. 26869582 2016
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
0.800 GeneticVariation UNIPROT Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 24656866 2014
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
0.800 CausalMutation CLINVAR
Microcephaly
CUI: C0025958
Disease: Microcephaly
0.010 GeneticVariation BEFREE Recessive mutations in QARS, including the loss-of-function missense mutation p.Tyr57His, have been reported to cause intractable seizures with progressive microcephaly. 25471517 2015
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE Recessive mutations in QARS, including the loss-of-function missense mutation p.Tyr57His, have been reported to cause intractable seizures with progressive microcephaly. 25471517 2015