POMK, protein O-mannose kinase, 84197

N. diseases: 101; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.320 GeneticVariation group BEFREE A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 29910097 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.320 Biomarker group GENOMICS_ENGLAND A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 29910097 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.320 GeneticVariation group BEFREE Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). 31833209 2020
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C1836038
Disease: Poor head control
Poor head control 		0.100 Biomarker phenotype HPO