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: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0426422
Disease: Narrow nose
Narrow nose
phenotype Finding 17 1 0.100 None 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.100 None 0
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None < 0.001 1 2018 2018
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.010 None < 0.001 1 2016 2016
B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like
disease Neoplastic Process 2 0.020 None 0.500 2 2018 2019
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 4 0.020 None 0.500 2 2017 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.020 None 0.500 2 1990 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.020 None 0.500 2 1990 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.020 None 0.500 2 1990 2016
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
disease Neoplasms Neoplastic Process 91 8 0.020 None 0.500 2 1998 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 0.500 2 2014 2019
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.030 None 0.667 3 1998 2006
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.030 None 0.667 3 1990 2016
Ph-Like Acute Lymphoblastic Leukemia
disease Neoplastic Process 30 1 0.100 None 0.750 12 2012 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.040 None 0.750 4 1993 2016
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.040 None 0.750 4 2000 2011
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.040 None 0.750 4 2000 2011
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.090 None 0.778 9 1987 2019
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.050 None 0.800 5 2000 2015
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 158 28 0.060 None 0.833 6 1994 2019
Philadelphia chromosome negative chronic myelogenous leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 7 0.060 None 0.833 6 1990 2005
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 32 5 0.070 None 0.857 7 2007 2019