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: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		disease Disease or Syndrome 2 4 0.400 None 1.000 2 4 2017 2019
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 		disease Disease or Syndrome 2 1 0.700 None 1.000 1 1 2016 2016
CUI: C0740372
Disease: Gastrointestinal lymphoma
Gastrointestinal lymphoma 		disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2003 2003
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		phenotype Finding 14 0.100 None 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		phenotype Finding 16 0.100 None 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		disease Disease or Syndrome 16 0.100 None 0
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype Finding 17 4 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C0432028
Disease: Split foot
Split foot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 2 0.100 None 0 1
CUI: C0349532
Disease: Gastric lymphoma
Gastric lymphoma 		disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 24 1 0.010 None 1.000 1 2000 2000
CUI: C0483368
Disease: Human anaplasmosis due to Anaplasma phagocytophilum
Human anaplasmosis due to Anaplasma phagocytophilum 		disease Infections; Animal Diseases Disease or Syndrome 29 0.010 None 1.000 1 2000 2000
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		phenotype Finding 29 0.100 None 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.510 strong 1.000 1 2017 2017
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		disease Musculoskeletal Diseases Acquired Abnormality 34 0.100 None 0
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 36 2 0.200 None 0
CUI: C0234860
Disease: Weak cry
Weak cry 		phenotype Finding 42 4 0.100 None 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype Finding 46 5 0.100 None 0
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2016 2016
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2003 2003
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2003 2003
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 8 0.100 None 0 1
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0