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: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.100 None 0
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 93 21 0.100 None 0
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary
disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.010 None 1.000 1 1992 1992
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.010 None 1.000 1 1992 1992
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 1994 1994
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 1994 1994
CUI: C2936380
Disease: Neointima
Neointima
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 40 0.200 None 1.000 1 1997 1997
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma
disease Neoplasms Neoplastic Process 7 4 0.010 None 1.000 1 2000 2000
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.310 None 1.000 1 2000 2000
Childhood Anaplastic Oligoastrocytoma
disease Neoplastic Process 7 4 0.010 None 1.000 1 2000 2000
CUI: C2718076
Disease: Fetal Mummification
Fetal Mummification
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 6 0.300 None 1.000 1 2000 2000
CUI: C0266508
Disease: Rachischisis
Rachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 0.300 None 1.000 1 2000 2000
Congenital abnormality of respiratory system
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 3 0.300 None 1.000 1 2000 2000
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2000 2000
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.010 None 1.000 1 2001 2001
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.010 None 1.000 1 2001 2001
Chronic rejection of renal transplant
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 1 0.200 None 1.000 1 2002 2002
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma
disease Neoplasms Neoplastic Process 19 0.300 None 1.000 1 2003 2003
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 32 5 0.030 None 1.000 3 2002 2004
CUI: C1704327
Disease: Bone Sarcoma
Bone Sarcoma
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 32 4 0.010 None 1.000 1 2004 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2004 2004
CUI: C0948384
Disease: Cerebral hygroma
Cerebral hygroma
disease Neoplastic Process 1 0.010 None 1.000 1 2004 2004
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2004 2004