SPATA22, spermatogenesis associated 22, 84690

N. diseases: 6; N. variants: 65
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: C0206307
Disease: Canavan Disease
Canavan Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 65 0.100 None 1.000 38 63 1993 2016
CUI: C0751663
Disease: Canavan Disease, Familial Form
Canavan Disease, Familial Form
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 9 0.100 None 1.000 14 9 1993 2013
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative
disease Eye Diseases Disease or Syndrome 39 58 0.100 None 1.000 1 1 2012 2012
CUI: C4017127
Disease: CANAVAN DISEASE, MILD
CANAVAN DISEASE, MILD
phenotype Finding 2 1 0.100 None 0 1
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.010 None 1.000 1 2019 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2019 2019