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: C4538355
Disease: PITUITARY ADENOMA 1, MULTIPLE TYPES
PITUITARY ADENOMA 1, MULTIPLE TYPES 		disease Neoplastic Process 1 11 0.600 None 1.000 7 8 2006 2018
CUI: C2362640
Disease: Neuronal choristoma
Neuronal choristoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.010 None 1.000 1 2013 2013
CUI: C1863340
Disease: PITUITARY ADENOMA PREDISPOSITION (disorder)
PITUITARY ADENOMA PREDISPOSITION (disorder) 		disease Finding 2 2 0.100 None 0 2
CUI: C2676198
Disease: Increased serum insulin-like growth factor 1
Increased serum insulin-like growth factor 1 		phenotype Finding 2 0.100 None 0
CUI: C4025548
Disease: Cortical diaphyseal thickening of the upper limbs
Cortical diaphyseal thickening of the upper limbs 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4552171
Disease: Familial acromegaly
Familial acromegaly 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.040 None 1.000 4 2007 2016
CUI: C4274947
Disease: Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C4022551
Disease: Wide penis
Wide penis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025789
Disease: Psychotic mentation
Psychotic mentation 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.100 None 0
CUI: C4022676
Disease: Decreased female libido
Decreased female libido 		phenotype Finding 4 0.100 None 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C0405578
Disease: Gigantism and acromegaly
Gigantism and acromegaly 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.030 None 1.000 3 2012 2017
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 5 23 0.020 None 1.000 2 2012 2013
CUI: C4302109
Disease: IgG4-related sclerosing cholangitis
IgG4-related sclerosing cholangitis 		disease Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0339693
Disease: Internal Ophthalmoplegia
Internal Ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 5 0.100 None 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		disease Mental or Behavioral Dysfunction 5 7 0.100 None 0
CUI: C4072828
Disease: Sudden loss of visual acuity
Sudden loss of visual acuity 		phenotype Finding 5 0.100 None 0
CUI: C0239488
Disease: Facial erythema
Facial erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C3281059
Disease: Broad jaw
Broad jaw 		phenotype Finding 6 0.100 None 0
CUI: C3665358
Disease: Galactorrhea
Galactorrhea 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C4023211
Disease: Adrenocorticotropin deficient adrenal insufficiency
Adrenocorticotropin deficient adrenal insufficiency 		disease Disease or Syndrome 6 0.100 None 0
CUI: C3891556
Disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
CHROMOSOME Xq26.3 DUPLICATION SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.040 None 1.000 4 2015 2018
CUI: C4018860
Disease: Pituitary growth hormone cell adenoma
Pituitary growth hormone cell adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 8 0.100 None 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		disease Nervous System Diseases Disease or Syndrome 8 2 0.100 None 0
CUI: C0344453
Disease: Macroprolactinoma
Macroprolactinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2015 2015