POMT1, protein O-mannosyltransferase 1, 10585

N. diseases: 223; N. variants: 32
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.110 None 1.000 1 2008 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.110 None 1.000 1 2012 2012
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 9 0.110 None 1.000 1 2019 2019
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.110 None 1.000 1 2005 2005
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2019 2019
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 1.000 1 1 2007 2007
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype Finding 18 4 0.100 None 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype Finding 55 3 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype Finding 46 5 0.100 None 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype Finding 9 0.100 None 0
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy 		phenotype Finding 2 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0 1
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype Finding 14 3 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype Finding 13 1 0.100 None 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 28 0.100 None 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		disease Disease or Syndrome 8 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0 1
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0