AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
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: C4280905
Disease: Degenerative scoliosis
Degenerative scoliosis
disease Acquired Abnormality 1 0.020 None 1.000 2 2017 2018
CUI: C0016697
Disease: Freemartinism
Freemartinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Animal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
Mullerian inhibiting factor deficiency
disease Disease or Syndrome 1 0.010 None 1.000 1 1994 1994
CUI: C0404562
Disease: Incipient ovarian failure
Incipient ovarian failure
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0008352
Disease: Cholemia
Cholemia
disease Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C0016696
Disease: Freemartin
Freemartin
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0311357
Disease: ovarian cystic disease
ovarian cystic disease
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
Sex Chromosome Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 0.050 None 1.000 5 1993 2020
CUI: C0012624
Disease: Discitis
Discitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0016427
Disease: Follicular cyst
Follicular cyst
disease Neoplasms Acquired Abnormality 4 0.010 None 1.000 1 2018 2018
CUI: C1263855
Disease: Lumbar radiculopathy
Lumbar radiculopathy
disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0271528
Disease: Isosexual precocious puberty
Isosexual precocious puberty
phenotype Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2009 2009
Abnormality of male internal genitalia
disease Anatomical Abnormality 5 0.100 None 0
CUI: C0156372
Disease: Asherman Syndrome
Asherman Syndrome
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.010 None < 0.001 1 2017 2017
CUI: C0264184
Disease: Degenerative spondylolisthesis
Degenerative spondylolisthesis
disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
Adrenal hyperplasia, congenital, type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 7 27 0.010 None 1.000 1 1991 1991
CUI: C4551490
Disease: Ovotestis
Ovotestis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.020 None 1.000 2 1996 2017
CUI: C0015951
Disease: Fetal Resorption
Fetal Resorption
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
Female infertility associated with anovulation
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C2215257
Disease: Acute postoperative pain
Acute postoperative pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality 9 16 0.800 strong 0.958 24 9 1991 2020
CUI: C0266360
Disease: Streak gonad
Streak gonad
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0.030 None 1.000 3 1996 2012
CUI: C0742960
Disease: cyst benign
cyst benign
disease Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C2930618
Disease: Intersex Conditions
Intersex Conditions
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 9 0.010 None 1.000 1 2003 2003