Source: CLINVAR ×
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: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 8 0.900 strong 1.000 0 8 2007 2013
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 5 1 2007 2011
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease Cardiovascular Diseases Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 8 0.100 None 0 1
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 2 9 0.100 None 0 1
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 2 2 0.100 None 0 1
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		disease Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		disease Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 2 0.100 None 0 1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 2 9 0.400 None 0 6
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		phenotype Finding 3 3 0.100 None 0 1
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 4 7 0.100 None 0 1
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 4 7 0.100 None 0 1
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 4 10 0.100 None 0 1
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 5 5 0.100 None 0 1
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 5 6 0.100 None 0 1
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 32 0.100 None 1.000 6 2 2007 2013
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 6 11 0.100 None 0 2
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 7 8 0.100 None 0 1
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 7 8 0.100 None 0 1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 8 8 0.100 None 0 1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 9 24 0.100 None 0 4
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 10 11 0.100 None 0 1