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: C2828150
Disease: HPV positive oropharyngeal squamous cell carcinoma
HPV positive oropharyngeal squamous cell carcinoma 		disease Neoplastic Process 25 0.010 None 1.000 1 2017 2017
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2015 2015
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 1 2013 2013
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
GASTRIC CANCER, INTESTINAL 		disease Neoplastic Process 34 3 0.010 None 1.000 1 2012 2012
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.010 None 1.000 1 2020 2020
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2011 2011
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		disease Neoplastic Process 71 3 0.010 None 1.000 1 2018 2018
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.010 None 1.000 1 2018 2018
CUI: C3809874
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 		disease Neoplastic Process 7 1 0.010 None 1.000 1 2013 2013
CUI: C4049446
Disease: Neointimal hyperplasia
Neointimal hyperplasia 		disease Disease or Syndrome 198 0.010 None 1.000 1 2019 2019
CUI: C4285066
Disease: Double-Hit Lymphoma
Double-Hit Lymphoma 		disease Neoplastic Process 24 0.010 None 1.000 1 2016 2016
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma 		disease Neoplastic Process 24 3 0.010 None 1.000 1 2019 2019
CUI: C4531084
Disease: Mucinous colorectal carcinoma
Mucinous colorectal carcinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C4721208
Disease: Metastatic castration-resistant prostate cancer
Metastatic castration-resistant prostate cancer 		disease Neoplastic Process 140 2 0.010 None 1.000 1 2012 2012
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma 		disease Neoplastic Process 73 5 0.010 None 1.000 1 2015 2015
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2018 2018
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0