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: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.010 None 1.000 1 2002 2002
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
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: C0268285
Disease: Adrenal hyperplasia, congenital, type 5
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: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.010 None 1.000 1 2012 2012
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: C0264184
Disease: Degenerative spondylolisthesis
Degenerative spondylolisthesis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2017 2017
CUI: C0240602
Disease: opioid use
opioid use 		disease Mental or Behavioral Dysfunction 39 5 0.010 None 1.000 1 2017 2017
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.010 None 1.000 1 2018 2018
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 178 18 0.010 None 1.000 1 2017 2017
CUI: C0271629
Disease: Mullerian inhibiting factor deficiency
Mullerian inhibiting factor deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 1994 1994
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2008 2008
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.010 None 1.000 1 2017 2017
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2005 2005
CUI: C0311357
Disease: ovarian cystic disease
ovarian cystic disease 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
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: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2008 2008
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: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer 		disease Neoplastic Process 65 0.010 None 1.000 1 1999 1999
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2009 2009
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: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2002 2002
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