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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
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 0.400 None 0.986 289 4 1993 2020
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.100 None 0.967 91 3 1993 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.100 None 0.961 77 3 1993 2019
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.100 None 1.000 57 1993 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.100 None 1.000 30 1 1993 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.100 None 0.966 29 1993 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 12 2 1993 2016
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: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2)
disease Neoplasms Neoplastic Process 143 5 0.400 None 1.000 13 1994 2019
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
disease Neoplasms Neoplastic Process 105 3 0.020 None 1.000 2 1994 2000
CUI: C2242826
Disease: Myeloblastic leukemia
Myeloblastic leukemia
disease Neoplastic Process 22 0.010 None 1.000 1 1994 1994
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.030 None 1.000 3 2 1995 2007
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.010 None 1.000 1 1995 1995
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 385 7 0.100 None 1.000 10 1996 2019
CUI: C0162679
Disease: Leukemic Infiltration
Leukemic Infiltration
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 1996 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 19 1997 2019
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: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION
disease Disease or Syndrome 66 2 0.010 None 1.000 1 1997 1997
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 1997 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.070 None 1.000 7 1998 2018
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.030 None 1.000 3 1998 2011
Childhood Pre-B Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 3 0.010 None 1.000 1 1998 1998