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: C1384582
Disease: Primary testicular failure
Primary testicular failure 		disease Endocrine System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 1 2016 2016
CUI: C0024106
Disease: Lumpy Skin Disease
Lumpy Skin Disease 		disease Infections; Animal Diseases Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0857116
Disease: Gross obesity
Gross obesity 		disease Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C1840348
Disease: Hypocalciuric Hypercalcemia, Acquired
Hypocalciuric Hypercalcemia, Acquired 		disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 26 0.010 None 1.000 1 2010 2010
CUI: C1334386
Disease: Meningeal melanoma
Meningeal melanoma 		disease Neoplastic Process 23 1 0.010 None 1.000 1 2019 2019
CUI: C0580174
Disease: Portal hypertensive gastropathy
Portal hypertensive gastropathy 		disease Digestive System Diseases Disease or Syndrome 24 0.010 None 1.000 1 2017 2017
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 31 6 0.010 None 1.000 1 2017 2017
CUI: C0553665
Disease: Skin endocrine disorder
Skin endocrine disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 34 1 0.010 None 1.000 1 2017 2017
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 38 24 0.010 None 1.000 1 2019 2019
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 39 26 0.010 None 1.000 1 2015 2015
CUI: C0858600
Disease: Taste sweet
Taste sweet 		phenotype Sign or Symptom 41 3 0.010 None 1.000 1 2018 2018
CUI: C0001916
Disease: Albinism
Albinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.010 None 1.000 1 2008 2008
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 46 8 0.010 None 1.000 1 2010 2010
CUI: C0393642
Disease: Sepsis-Associated Encephalopathy
Sepsis-Associated Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 57 0.010 None 1.000 1 2018 2018
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.010 None 1.000 1 2018 2018
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 60 41 0.020 None 1.000 2 2016 2016
CUI: C0751569
Disease: Genitourinary Cancer
Genitourinary Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 60 1 0.010 None 1.000 1 2004 2004
CUI: C0021122
Disease: Disruptive, Impulse Control, and Conduct Disorders
Disruptive, Impulse Control, and Conduct Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 67 9 0.010 None 1.000 1 2019 2019
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.010 None 1.000 1 2010 2010
CUI: C0020175
Disease: Hunger
Hunger 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 70 12 0.010 None 1.000 1 2019 2019
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 72 4 0.010 None 1.000 1 2018 2018
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		disease Neoplasms Neoplastic Process 77 0.010 None 1.000 1 2019 2019
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		disease Neoplasms Neoplastic Process 78 0.010 None 1.000 1 2019 2019
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.010 None 1.000 1 1 2014 2014