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: C0860158
Disease: Leydig Cell Hypoplasia
Leydig Cell Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 6 0.010 None 1.000 1 1998 1998
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 21 0.010 None 1.000 1 1998 1998
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: C0334347
Disease: Eccrine spiradenoma
Eccrine spiradenoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2017 2017
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 20 17 0.010 None 1.000 1 1999 1999
CUI: C1334386
Disease: Meningeal melanoma
Meningeal melanoma 		disease Neoplastic Process 23 1 0.010 None 1.000 1 2019 2019
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 24 14 0.010 None 1.000 1 2017 2017
CUI: C0349658
Disease: Trichoepithelioma
Trichoepithelioma 		disease Neoplasms Neoplastic Process 24 3 0.010 None 1.000 1 2017 2017
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: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 2000 2000
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: C0279563
Disease: Lobular carcinoma in situ of breast
Lobular carcinoma in situ of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 38 4 0.010 None 1.000 1 1 2014 2014
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: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 43 4 0.010 None 1.000 1 2020 2020
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: C0037285
Disease: Skin Manifestations
Skin Manifestations 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 5 0.010 None 1.000 1 2018 2018
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.010 None 1.000 1 2008 2008
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