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: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.100 None 0
CUI: C4022946
Disease: Abnormal glycosylation
Abnormal glycosylation 		phenotype Finding 6 0.100 None 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		disease Anatomical Abnormality 21 0.100 None 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		phenotype Finding 19 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		phenotype Sign or Symptom 46 5 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 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: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 22 0.100 None 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		phenotype Finding 19 1 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype Finding 55 3 0.100 None 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		phenotype Finding 11 1 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 152 6 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype Finding 9 0.100 None 0
CUI: C1850871
Disease: Hypoplasia of the pyramidal tract
Hypoplasia of the pyramidal tract 		phenotype Finding 1 0.100 None 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype Finding 14 3 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype Finding 108 8 0.100 None 0