SIL1, SIL1 nucleotide exchange factor, 64374

N. diseases: 115; N. variants: 4
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: C0033132
Disease: Cerebellar Degenerations, Primary
Cerebellar Degenerations, Primary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0270755
Disease: Corticostriatal-Spinal Degeneration
Corticostriatal-Spinal Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype 		disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2019 2019
CUI: C0270749
Disease: Marie Cerebellar Ataxia
Marie Cerebellar Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.300 None 0
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		disease Anatomical Abnormality 8 3 0.010 None 1.000 1 2014 2014
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		phenotype Musculoskeletal Diseases Anatomical Abnormality 8 1 0.100 None 0
CUI: C0393524
Disease: Cerebellar Ataxia, Late Onset
Cerebellar Ataxia, Late Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.300 None 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		disease Disease or Syndrome 9 7 0.100 None 0
CUI: C0235592
Disease: Cervical lymphadenopathy
Cervical lymphadenopathy 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2004 2004
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 0.300 None 0
CUI: C0037952
Disease: Spinocerebellar Degeneration
Spinocerebellar Degeneration 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 1 0.320 None 1.000 2 2005 2008
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.100 None 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		phenotype Finding 16 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: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		phenotype Finding 19 1 0.100 None 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 22 0.100 None 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		phenotype Finding 25 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 28 2 0.100 None 0
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 29 8 0.010 None 1.000 1 2004 2004
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype Finding 29 2 0.100 None 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype Finding 34 1 0.100 None 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.300 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0