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: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 1976 1976
Lipoid congenital adrenal hyperplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 34 0.010 None 1.000 1 1977 1977
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.020 None 1.000 2 1984 1986
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.060 None 1.000 6 1986 2012
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.030 None 1.000 3 1986 2000
Deficiency of steroid 21-monooxygenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 1986 1986
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
disease Disease or Syndrome 4 8 0.030 None 1.000 3 1988 1992
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.010 None 1.000 1 1990 1990
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.020 None 1.000 2 1991 1991
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
disease Endocrine System Diseases Disease or Syndrome 120 9 0.010 None 1.000 1 1991 1991
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
disease Endocrine System Diseases Disease or Syndrome 126 9 0.010 None 1.000 1 1991 1991
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
disease Endocrine System Diseases Disease or Syndrome 82 25 0.010 None 1.000 1 1991 1991
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.010 None 1.000 1 1992 1992
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.050 None 1.000 5 1 1993 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.040 None 1.000 4 1 1993 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.040 None 1.000 4 1 1993 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 1993 2012
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 452 22 0.010 None 1.000 1 1993 1993
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 1993 1993
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 1994 2004
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 1994 2004
Neonatal Torulopsis glabrata Fungemia
disease Infections Disease or Syndrome 3 0.010 None 1.000 1 1994 1994
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 1995 1995
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 1995 1995
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 1995 1995