FKTN, fukutin, 2218

N. diseases: 211; N. variants: 37
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: C1969040
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.700 strong 1.000 7 7 2001 2016
CUI: C1969024
Disease: CARDIOMYOPATHY, DILATED, 1X
CARDIOMYOPATHY, DILATED, 1X 		disease Cardiovascular Diseases Disease or Syndrome 1 3 0.700 None 1.000 3 3 2006 2016
CUI: C1850871
Disease: Hypoplasia of the pyramidal tract
Hypoplasia of the pyramidal tract 		phenotype Finding 1 0.100 None 0
CUI: C0151654
Disease: Myocardial fibrosis
Myocardial fibrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.100 None 0
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		disease Disease or Syndrome 6 3 0.900 strong 1.000 9 3 2001 2016
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		disease Disease or Syndrome 6 13 0.200 None 1.000 1 2009 2009
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		disease Disease or Syndrome 6 21 0.200 None 1.000 1 2009 2009
CUI: C4022946
Disease: Abnormal glycosylation
Abnormal glycosylation 		phenotype Finding 6 0.100 None 0
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 15 0.200 None 1.000 1 2009 2009
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		disease Disease or Syndrome 7 13 0.200 None 1.000 1 2009 2009
CUI: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		disease Disease or Syndrome 7 2 0.200 None 1.000 1 2009 2009
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 7 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: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype Finding 9 0.100 None 0
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 24 0.010 None 1.000 1 2013 2013
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		disease Congenital Abnormality 10 0.200 None 1.000 1 2009 2009
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		phenotype Finding 10 0.100 None 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		phenotype Finding 10 0.100 None 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		phenotype Finding 11 1 0.100 None 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 15 0.300 None 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype Finding 14 3 0.100 None 0
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 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 16 0.400 None 0 2
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 15 0.300 None 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		phenotype Finding 15 1 0.100 None 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.200 None 1.000 1 2009 2009