SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
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.
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.070 None 1.000 7 2010 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 2013 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1996 2007
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.020 None 1.000 2 2015 2018
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease Disease or Syndrome 19 0.020 None 1.000 2 2008 2009
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia
disease Disease or Syndrome 25 6 0.020 None 1.000 2 2007 2009
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
disease Disease or Syndrome 11 0.310 None 1.000 2 2007 2010
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2008 2011
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 38 0.010 None 1.000 1 2018 2018
CUI: C1699634
Disease: HER-2 positive breast cancer
HER-2 positive breast cancer
disease Neoplastic Process 18 1 0.010 None 1.000 1 2018 2018
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7
disease Neoplastic Process 48 3 0.010 None 1.000 1 2016 2016
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3
disease Disease or Syndrome 209 20 0.010 None 1.000 1 2018 2018
CUI: C4020788
Disease: Xy female gonadal dysgenesis
Xy female gonadal dysgenesis
disease Congenital Abnormality 1 0.010 None 1.000 1 2000 2000
Behavioral and psychological symptoms of dementia
phenotype Sign or Symptom 72 9 0.010 None 1.000 1 2017 2017
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
disease Disease or Syndrome 4 8 0.010 None 1.000 1 2015 2015
CUI: C4525119
Disease: Stage II Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8
disease Neoplastic Process 48 3 0.010 None 1.000 1 2016 2016
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 26 0.010 None 1.000 1 2012 2012
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels
phenotype Finding 33 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature
phenotype Finding 79 14 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0266371
Disease: Streak ovary
Streak ovary
disease Congenital Abnormality 21 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 0.100 None 0