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: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.060 None 1.000 6 2 2005 2017
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		disease Disease or Syndrome 9 0.050 None 0.800 5 2009 2020
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.040 None 1.000 4 1 2001 2020
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		disease Congenital Abnormality 3 2 0.400 None 1.000 4 2 2016 2017
CUI: C2118097
Disease: Agonadism
Agonadism 		disease Disease or Syndrome 2 0.030 None 1.000 3 2007 2013
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		disease Disease or Syndrome 1 6 0.700 None 1.000 3 6 2010 2015
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease Disease or Syndrome 11 0.310 None 1.000 2 2014 2016
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2001 2001
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2013 2013
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.110 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2013 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2010 2010
CUI: C1856659
Disease: Polysplenia
Polysplenia 		disease Congenital Abnormality 15 0.010 None 1.000 1 2017 2017
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		disease Disease or Syndrome 19 0.010 None 1.000 1 2009 2009
CUI: C3805515
Disease: Microorchidism
Microorchidism 		disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		disease Anatomical Abnormality 10 0.010 None 1.000 1 2013 2013
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 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: C0342381
Disease: Idiopathic growth hormone deficiency
Idiopathic growth hormone deficiency 		disease Disease or Syndrome 10 0.200 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
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 0.100 None 0