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: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease Endocrine System Diseases Disease or Syndrome 57 70 1.000 strong 1.000 142 59 1994 2019
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.700 None 0.972 36 6 1997 2019
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.500 None 0.972 72 2 1994 2019
CUI: C0028960
Disease: Oligospermia
Oligospermia
disease Male Urogenital Diseases Disease or Syndrome 217 72 0.420 None 1.000 2 2006 2013
Congenital hypoplasia of adrenal gland
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.400 strong 1.000 79 2 1994 2019
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.400 None 1.000 1 1994 1994
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 305 24 0.370 None 1.000 8 1994 2017
CUI: C0795887
Disease: Complex Glycerol Kinase Deficiency
Complex Glycerol Kinase Deficiency
disease Endocrine System Diseases Disease or Syndrome 3 0.330 None 1.000 5 1994 2018
46, XX Testicular Disorders of Sex Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1 0.310 None 1.000 2 2013 2017
Xp21 Contiguous Gene Deletion Syndrome
disease Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 2 1994 2003
CUI: C1868690
Disease: Hypoadrenocorticism, familial
Hypoadrenocorticism, familial
disease Endocrine System Diseases Disease or Syndrome 2 1 0.300 None 1.000 2 1994 2003
Hypogonadism, Isolated Hypogonadotropic
disease Endocrine System Diseases Disease or Syndrome 42 8 0.300 None 1.000 1 1994 1994
CUI: C0432475
Disease: XX males
XX males
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.300 None 1.000 1 2017 2017
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
disease Disease or Syndrome 11 0.300 None 1.000 1 2008 2008
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.200 None 0.963 27 1 1998 2019
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 139 20 0.150 None 1.000 5 2001 2019
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.140 None 1.000 4 1 2005 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.120 None 1.000 2 1998 2002
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.120 None 1.000 2 2008 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.110 None 1.000 1 2017 2017
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.110 None 1.000 1 2004 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.110 None 1.000 1 2008 2008
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism
disease Endocrine System Diseases Disease or Syndrome 50 1 0.110 None 1.000 1 1996 1996
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 0.990 102 2002 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.100 None 0.970 67 2 1994 2019