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.
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 moderate 1.000 8 2006 2015
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
disease Disease or Syndrome 2 12 0.700 strong 1.000 6 12 1991 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2015 2017
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2015 2016
CUI: C0741949
Disease: Cardiovascular Pathology
Cardiovascular Pathology
disease Disease or Syndrome 23 0.010 None 1.000 1 2010 2010
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3
disease Disease or Syndrome 209 20 0.010 None 1.000 1 2006 2006
CUI: C4285705
Disease: Pulmonary artery occlusion
Pulmonary artery occlusion
disease Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C4489482
Disease: Aneurysm or dissection
Aneurysm or dissection
disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling
phenotype Finding 12 1 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis
disease Disease or Syndrome 5 0.100 None 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity
phenotype Finding 4 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C1844592
Disease: Soft skin
Soft skin
phenotype Finding 22 3 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 103 4 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure
phenotype Finding 34 3 0.100 None 0
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla
phenotype Finding 5 1 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 181 12 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
phenotype Finding 123 0.100 None 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.620 strong 1.000 4 2006 2018