POMK, protein O-mannose kinase, 84197

N. diseases: 101; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509385
rs397509385
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 24556084 2014
dbSNP: rs397509385
rs397509385
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. 24925318 2014
dbSNP: rs397509386
rs397509386
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 24556084 2014
dbSNP: rs397509386
rs397509386
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. 24925318 2014
dbSNP: rs397509385
rs397509385
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. 23929950 2013
dbSNP: rs397509385
rs397509385
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211 2013
dbSNP: rs397509386
rs397509386
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211 2013
dbSNP: rs397509386
rs397509386
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.800 GeneticVariation UNIPROT SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. 23929950 2013
dbSNP: rs397509385
rs397509385
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397509386
rs397509386
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1454006905
rs1454006905
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C4015184
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		C 0.700 CausalMutation CLINVAR POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. 24925318 2014
dbSNP: rs1454006905
rs1454006905
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		C 0.700 CausalMutation CLINVAR POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 24556084 2014
dbSNP: rs1454006905
rs1454006905
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C4015184
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		C 0.700 CausalMutation CLINVAR POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 24556084 2014
dbSNP: rs1454006905
rs1454006905
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		C 0.700 CausalMutation CLINVAR POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. 24925318 2014
dbSNP: rs199756983
rs199756983
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		0.700 GeneticVariation UNIPROT
dbSNP: rs587777423
rs587777423
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C4015184
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777423
rs587777423
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231306
rs606231306
Entrez Id: 84197
Gene Symbol: POMK
POMK
CUI: C3808964
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 		C 0.700 CausalMutation CLINVAR