SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
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: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 5 2 0.310 None 1.000 1 1 2017 2017
CUI: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 16 0.200 None 1.000 1 2017 2017
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 14 0.100 None 1.000 15 14 2000 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.100 None 1.000 14 8 2000 2011
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0 4
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 6 0.100 None 0 6
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		disease Disease or Syndrome 2 2 0.100 None 0 2