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: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		phenotype Pathological Conditions, Signs and Symptoms Finding 9 3 0.100 None 0
CUI: C0221184
Disease: Bitemporal Hemianopia
Bitemporal Hemianopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 9 0.100 None 0
CUI: C0205822
Disease: Hibernoma
Hibernoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2010 2010
CUI: C4302455
Disease: Pancreatitis due to pancreatic duct obstruction
Pancreatitis due to pancreatic duct obstruction 		disease Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 4 0.100 None 0
CUI: C4024716
Disease: Secondary growth hormone deficiency
Secondary growth hormone deficiency 		disease Disease or Syndrome 11 0.100 None 0
CUI: C0269011
Disease: Increased size of penis
Increased size of penis 		phenotype Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		phenotype Finding 12 0.100 None 0
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 11 0.010 None 1.000 1 2019 2019
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 13 23 0.010 None 1.000 1 2010 2010
CUI: C0271375
Disease: Fourth cranial nerve paresis
Fourth cranial nerve paresis 		disease Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0278864
Disease: Growth Hormone-Producing Pituitary Gland Neoplasm
Growth Hormone-Producing Pituitary Gland Neoplasm 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 14 2 0.020 None 1.000 2 2 2015 2017
CUI: C2676191
Disease: PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder) 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 16 6 0.200 None 0.885 26 4 2007 2019
CUI: C0017547
Disease: Gigantism
Gigantism 		disease Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.060 None 1.000 6 1 2013 2018
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		phenotype Finding 16 0.100 None 0
CUI: C4733333
Disease: familial non-medullary thyroid cancer
familial non-medullary thyroid cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 17 1 0.010 None < 0.001 1 2009 2009
CUI: C0013428
Disease: Dysuria
Dysuria 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 3 0.100 None 0
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 18 0.340 None 1.000 4 2007 2010
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 2018 2018
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		phenotype Finding 19 3 0.100 None 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 19 6 0.100 None 0
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.010 None 1.000 1 2009 2009
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: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0