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: C0746025
Disease: Lumbar spondylolisthesis
Lumbar spondylolisthesis 		phenotype Musculoskeletal Diseases Acquired Abnormality 10 0.040 None 1.000 4 2017 2019
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 11 35 0.010 None 1.000 1 2002 2002
CUI: C0028643
Disease: Numbness
Numbness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 12 2 0.010 None 1.000 1 2017 2017
CUI: C0221033
Disease: Trisomy X syndrome
Trisomy X syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C0042075
Disease: Urologic Diseases
Urologic Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2013 2013
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.010 None 1.000 1 1996 1996
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 13 5 0.010 None 1.000 1 2018 2018
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus 		disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2019 2019
CUI: C0265656
Disease: Congenital hallux valgus
Congenital hallux valgus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 0.010 None 1.000 1 2019 2019
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 16 19 0.010 None 1.000 1 2003 2003
CUI: C0038017
Disease: Congenital spondylolisthesis
Congenital spondylolisthesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 1 0.060 None 1.000 6 2017 2019
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2018 2018
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.010 None 1.000 1 2018 2018
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		disease Disease or Syndrome 18 11 0.010 None 1.000 1 2019 2019
CUI: C1533568
Disease: fertility disorders
fertility disorders 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 18 0.300 None 1.000 1 2005 2005
CUI: C0280255
Disease: stage, endometrial carcinoma
stage, endometrial carcinoma 		phenotype Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 19 1 0.010 None 1.000 1 2018 2018
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		disease Disease or Syndrome 19 0.010 None 1.000 1 2016 2016
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2017 2017
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 18 0.010 None 1.000 1 2019 2019
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 23 10 0.010 None 1.000 1 2020 2020
CUI: C0700594
Disease: Radiculopathy
Radiculopathy 		disease Nervous System Diseases Disease or Syndrome 25 0.020 None 1.000 2 2017 2018
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 27 3 0.040 None 0.750 4 2004 2019
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.020 None 1.000 2 1996 2017
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis 		disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.060 None 1.000 6 2017 2019