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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.310 None 1.000 1 1 2014 2014
CUI: C2750068
Disease: Roifman-Chitayat Syndrome
Roifman-Chitayat Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 3 0.300 None 1.000 1 2018 2018
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.120 None 1.000 3 2 2014 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.100 None 1.000 1 1 2016 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2019 2019
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2014 2014
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.010 None 1.000 1 2000 2000
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 15 0.010 None 1.000 1 1993 1993
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2000 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2014 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.010 None < 0.001 1 2018 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.010 None 1.000 1 2000 2000
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2000 2000
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2016 2016
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2016 2016
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None 1.000 1 2019 2019
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None < 0.001 1 2018 2018