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: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
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 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
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 0.100 None 0
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.030 None 1.000 3 1987 1997
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.010 None 1.000 1 1991 1991
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.020 None 1.000 2 1993 1996
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.010 None 1.000 1 1993 1993
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 1997 1997
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 1997 1997
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.010 None 1.000 1 1997 1997
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 1999 1999
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 1999 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.929 14 2001 2019
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.010 None 1.000 1 2001 2001
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.010 None 1.000 1 2001 2001
CUI: C0242006
Disease: Myelofibrosis due to another disorder
Myelofibrosis due to another disorder 		disease Disease or Syndrome 23 6 0.010 None 1.000 1 2001 2001
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.010 None < 0.001 1 2003 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2006 2006
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.050 None 1.000 5 2009 2019
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2009 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.510 None 1.000 2 2011 2012
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.320 None 1.000 2 2011 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2011 2011
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2011 2011