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: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		0.700 Biomarker disease CTD_human
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.510 Biomarker disease CTD_human
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.410 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 Biomarker disease HPO
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.300 GeneticVariation disease UNIPROT
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		0.300 Biomarker disease CTD_human
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.300 Biomarker disease CTD_human
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.300 Biomarker disease CTD_human
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		0.300 Biomarker disease CTD_human
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		0.300 Biomarker disease CTD_human
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.110 Biomarker disease HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.100 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO