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: C1837799
Disease: Generalized muscular appearance from birth
Generalized muscular appearance from birth 		phenotype Finding 2 0.100 None 0
CUI: C4021749
Disease: Cystic angiomatosis of bone
Cystic angiomatosis of bone 		phenotype Neoplasms; Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C4476537
Disease: Reduced intrathoracic adipose tissue
Reduced intrathoracic adipose tissue 		phenotype Finding 2 0.100 None 0
CUI: C4476602
Disease: Reduced intraabdominal adipose tissue
Reduced intraabdominal adipose tissue 		phenotype Finding 2 0.100 None 0
CUI: C4511302
Disease: Genetic lipodystrophy
Genetic lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C1837795
Disease: Prominent umbilicus
Prominent umbilicus 		phenotype Finding 3 0.100 None 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.200 None 1.000 2 2009 2016
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia 		phenotype Pathologic Function 4 0.100 None 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		phenotype Disease or Syndrome 5 0.100 None 0
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 25 0.930 None 0.857 7 25 2002 2019
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		phenotype Finding 8 0.100 None 0
CUI: C4023051
Disease: Abnormality of skeletal muscle fiber size
Abnormality of skeletal muscle fiber size 		phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 9 30 0.320 None 1.000 2 2004 2007
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		phenotype Finding 11 0.100 None 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 17 0.010 None 1.000 1 1 2013 2013
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 16 0.010 None 1.000 1 2007 2007
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 2015 2015
CUI: C0576225
Disease: Long foot
Long foot 		phenotype Musculoskeletal Diseases Finding 19 3 0.100 None 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		phenotype Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding 20 0.100 None 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype Finding 21 1 0.100 None 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		phenotype Organ or Tissue Function 21 2 0.100 None 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 23 0.100 None 0
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		phenotype Pathologic Function 25 1 0.100 None 0