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: C4479534
Disease: TOWNES-BROCKS SYNDROME 2
TOWNES-BROCKS SYNDROME 2
disease Disease or Syndrome 1 0.300 limited 1.000 3 2009 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2012 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2007 2007
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 83 11 0.010 None 1.000 1 2008 2008
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease Finding 11 30 0.300 None 1.000 1 1 2012 2012
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2008 2008
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers
phenotype Finding 31 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype Finding 67 11 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype Finding 28 0.100 None 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
phenotype Finding 10 0.100 None 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
phenotype Finding 46 7 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
phenotype Finding 6 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag
phenotype Finding 53 4 0.100 None 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe
phenotype Finding 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
disease Finding 40 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx
disease Anatomical Abnormality 17 0.100 None 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe
disease Congenital Abnormality 8 2 0.100 None 0