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: C2931379
Disease: Neonatal Torulopsis glabrata Fungemia
Neonatal Torulopsis glabrata Fungemia 		disease Infections Disease or Syndrome 3 0.010 None 1.000 1 1994 1994
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		disease Disease or Syndrome 4 8 0.030 None 1.000 3 1988 1992
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		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 5 34 0.010 None 1.000 1 1977 1977
CUI: C0520905
Disease: Vomiting, Postoperative
Vomiting, Postoperative 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 7 1 0.010 None 1.000 1 2018 2018
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		disease Eye Diseases Congenital Abnormality 14 7 0.010 None 1.000 1 2001 2001
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 10 0.010 None 1.000 1 1 2002 2002
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		disease Neoplastic Process 24 13 0.010 None 1.000 1 2004 2004
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 14 0.010 None 1.000 1 2017 2017
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
GASTRIC CANCER, INTESTINAL 		disease Neoplastic Process 34 3 0.010 None 1.000 1 2005 2005
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.010 None 1.000 1 2002 2002
CUI: C0149896
Disease: Primary gout
Primary gout 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 40 5 0.010 None 1.000 1 2019 2019
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 1986 1986
CUI: C0024537
Disease: Malaria, Vivax
Malaria, Vivax 		disease Infections Disease or Syndrome 60 2 0.010 None 1.000 1 2018 2018
CUI: C0221271
Disease: Elastosis perforans serpiginosa
Elastosis perforans serpiginosa 		disease Skin and Connective Tissue Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2006 2006
CUI: C0596321
Disease: Chemical Carcinogenesis
Chemical Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 71 2 0.010 None 1.000 1 2002 2002
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 75 20 0.010 None 1.000 1 2018 2018
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2006 2006
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2010 2010
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		disease Endocrine System Diseases Disease or Syndrome 82 25 0.010 None 1.000 1 1991 1991
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		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 87 36 0.020 None 1.000 2 1984 1986
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 67 0.020 None 1.000 2 2002 2004
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 67 0.020 None 1.000 2 2002 2004
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.010 None 1.000 1 1990 1990
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 1976 1976
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.010 None 1.000 1 2006 2006