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: C0240912
Disease: Vertical Talus
Vertical Talus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.100 None 0
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1301937
Disease: Talipes
Talipes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 2 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.100 None 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 6 0.100 None 0
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 33 15 0.900 strong 0.986 71 9 1992 2020
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 1.000 definitive 0.935 62 36 1977 2017
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.100 None 1.000 23 1997 2019
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 13 0.700 None 1.000 8 12 1977 2001
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 55 0.050 None 1.000 5 3 1998 2010
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 6 0.050 None 0.800 5 1 2006 2016
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.040 None 1.000 4 2003 2017
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		disease Eye Diseases Disease or Syndrome 69 15 0.030 None 1.000 3 2007 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.030 None 1.000 3 2 2007 2017
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.020 None 1.000 2 2 2014 2014
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.020 None 1.000 2 2 2008 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2007 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2007 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 1 2017 2018