Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553881510
rs1553881510
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. 26805434 2016
dbSNP: rs1553881510
rs1553881510
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. 26888482 2016
dbSNP: rs1553881788
rs1553881788
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. 26888482 2016
dbSNP: rs1553881788
rs1553881788
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. 26805434 2016
dbSNP: rs1553881510
rs1553881510
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. 26115735 2015
dbSNP: rs1553881788
rs1553881788
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. 26115735 2015
dbSNP: rs1553881510
rs1553881510
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
dbSNP: rs1553881788
rs1553881788
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
dbSNP: rs1553881510
rs1553881510
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. 20920667 2010
dbSNP: rs1553881788
rs1553881788
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. 20920667 2010
dbSNP: rs1553881510
rs1553881510
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. 12920088 2003
dbSNP: rs1553881788
rs1553881788
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. 12920088 2003