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: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		disease Disease or Syndrome 1 7 0.600 None 1.000 7 7 2006 2016
CUI: C4021264
Disease: Abnormal ventricular septum morphology
Abnormal ventricular septum morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 2 1 0.100 None 0
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 3 18 0.300 None 1.000 1 2014 2014
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 25 0.300 None 1.000 1 2014 2014
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		disease Anatomical Abnormality 4 2 0.100 None 0
CUI: C4022755
Disease: Functional abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract 		phenotype Pathologic Function 7 0.100 None 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 9 0.100 None 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.300 None 1.000 1 2007 2007
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 11 0.300 None 1.000 1 2007 2007
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2017 2017
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 13 12 0.100 None 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		phenotype Finding 13 0.100 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype Anatomical Abnormality 14 0.100 None 0
CUI: C1096666
Disease: Thyroid cancer metastatic
Thyroid cancer metastatic 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2013 2013
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.300 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 21 2 0.100 None 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 22 4 0.300 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 23 83 0.300 None 1.000 1 2007 2007
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.010 None 1.000 1 2016 2016
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C3551426
Disease: Dystrophic fingernails
Dystrophic fingernails 		phenotype Finding 27 0.100 None 0