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: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.010 None 1.000 1 1978 1978
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 1988 1988
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.010 None 1.000 1 1991 1991
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 1992 1992
CUI: C0079740
Disease: High Grade Lymphoma (neoplasm)
High Grade Lymphoma (neoplasm)
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 62 0.010 None 1.000 1 1993 1993
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 55 0.010 None 1.000 1 1994 1994
CUI: C0016048
Disease: Fibromatosis
Fibromatosis
disease Neoplasms Neoplastic Process 22 5 0.010 None 1.000 1 1996 1996
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis
disease Digestive System Diseases Disease or Syndrome 59 8 0.010 None 1.000 1 1996 1996
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture
disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 34 33 0.010 None 1.000 1 1996 1996
CUI: C4085370
Disease: Fibromatosis, Palmar
Fibromatosis, Palmar
disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None 1.000 1 1996 1996
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.020 None 1.000 2 1988 1997
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 1997 1997
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 1997 1997
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 1998 1998
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 1998 1998
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 1998 1998
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None 1.000 1 1998 1998
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.010 None 1.000 1 1998 1998
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.030 None 1.000 3 1994 1999
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.030 None 1.000 3 1994 1999
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 145 156 0.010 None < 0.001 1 1999 1999
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 1999 1999
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis
disease Infections Disease or Syndrome 152 4 0.020 None 1.000 2 1999 2000
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 67 5 0.020 None 1.000 2 2000 2000
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.010 None 1.000 1 2000 2000