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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.840 1.000 6 1 1999 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.810 1.000 3 3 1999 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.800 0.956 81 12 1998 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.800 0.813 23 8 1998 2016
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
disease Neoplasms Neoplastic Process 9 11 0.750 1.000 12 7 1997 2015
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
disease Neoplasms Neoplastic Process 58 4 0.700 1.000 39 2 1997 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 234 20 0.700 0.950 21 1 1999 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
disease Disease or Syndrome 4 9 0.700 7 9 2012 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
disease Neoplasms Neoplastic Process 32 3 0.660 0.833 7 2 2004 2016
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.600 0.957 52 1 1997 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.600 0.929 16 1 2000 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.580 1.000 10 2002 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.500 1.000 32 5 1999 2016
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.500 0.889 23 10 1996 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.500 1.000 21 2 1997 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.500 0.867 17 1 1996 2017
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 51 4 0.500 2 2 2000 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.440 strong 1.000 4 2015 2017
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 184 39 0.430 1.000 5 5 2005 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.430 1.000 4 9 2001 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.410 1.000 3 9 2001 2016
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1022 148 0.410 1.000 2 1 2007 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.400 1.000 46 1998 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.400 1.000 29 1998 2014
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 999 73 0.400 0.905 26 1 1999 2016