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: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 11 1 0.100 None 0
CUI: C0280631
Disease: Leiomyosarcoma of uterus
Leiomyosarcoma of uterus 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 71 0.100 None 0
CUI: C4024989
Disease: Hereditary nonpolyposis colorectal carcinoma
Hereditary nonpolyposis colorectal carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 28 5 0.100 None 0
CUI: C4016406
Disease: COLON CANCER, ADVANCED, SOMATIC
COLON CANCER, ADVANCED, SOMATIC 		disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C1860320
Disease: Bone marrow hypercellularity
Bone marrow hypercellularity 		phenotype Finding 26 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: C1839783
Disease: Large forehead
Large forehead 		phenotype Finding 14 1 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.100 None 0 1
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma 		disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.100 None 1.000 10 1980 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.030 None 1.000 3 1982 1984
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.030 None 1.000 3 1982 1984
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.060 None 1.000 6 1983 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.030 None 1.000 3 1985 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 1985 1985
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.983 58 2 1987 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.060 None 1.000 6 1987 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.060 None 1.000 6 1987 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.060 None 1.000 6 1987 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.971 34 1988 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.967 30 1988 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 1988 1988
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 1989 2009