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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 51 1998 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 32 1998 2019
CUI: C0205944
Disease: Sarcoma, Epithelioid
Sarcoma, Epithelioid 		disease Neoplasms Neoplastic Process 66 0.100 None 0.967 30 2005 2019
CUI: C2347613
Disease: Childhood Atypical Teratoid/Rhabdoid Tumor
Childhood Atypical Teratoid/Rhabdoid Tumor 		disease Neoplastic Process 28 0.100 None 0.897 29 2003 2019
CUI: C0279989
Disease: Childhood Epithelioid Sarcoma
Childhood Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 33 0.100 None 0.957 23 2005 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.100 None 0.913 23 1999 2020
CUI: C0279545
Disease: Adult Epithelioid Sarcoma
Adult Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 33 0.100 None 0.957 23 2005 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.952 21 1998 2019
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.100 None 0.812 16 2014 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 15 2005 2018
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.100 None 0.857 14 2001 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.100 None 1.000 13 2000 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.100 None 1.000 12 2005 2019
CUI: C0008487
Disease: Chordoma
Chordoma 		disease Neoplasms Neoplastic Process 140 3 0.100 None 1.000 12 2010 2020
CUI: C4049328
Disease: Renal medullary carcinoma
Renal medullary carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 0.100 None 1.000 10 2012 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 5 1 2012 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 5 1 2012 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 5 2 2012 2014
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 1 1 2010 2010
CUI: C2599768
Disease: Fractional shortening
Fractional shortening 		phenotype Finding 4 4 0.100 None 1.000 1 1 2018 2018
CUI: C4023205
Disease: Neoplasm of the anterior pituitary
Neoplasm of the anterior pituitary 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 6 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4072889
Disease: Decreased circulating follicle stimulating hormone level
Decreased circulating follicle stimulating hormone level 		phenotype Finding 5 0.100 None 0