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: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None 1.000 1 1996 1996
CUI: C1848794
Disease: Thyrotropin, Biologically Inactive
Thyrotropin, Biologically Inactive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Cell or Molecular Dysfunction 1 0.300 None 1.000 3 2003 2012
CUI: C4082174
Disease: Thyrotropin deficiency, isolated
Thyrotropin deficiency, isolated 		disease Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 3 2003 2012
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2020 2020
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 30 5 0.100 None 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.500 None 1.000 5 2003 2014
CUI: C0860634
Disease: Psychogenic coma
Psychogenic coma 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 5 0.300 None 1.000 1 2014 2014
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 19 3 0.300 None 1.000 2 2007 2014
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.010 None 1.000 1 2 2014 2014
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.010 None 1.000 1 1998 1998
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2 2014 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 1989 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 1981 1981
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 1 1981 1981
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2010 2014
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 4 0.700 strong 1.000 7 4 1989 2017