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: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 7 4 2015 2019
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease Disease or Syndrome 77 1 0.030 None 0.667 3 2000 2017
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 3 2018 2018
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2002 2002
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0263925
Disease: Iliac crest spur
Iliac crest spur 		phenotype Finding 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		phenotype Finding 22 0.100 None 0
CUI: C1834383
Disease: Thickening of the lateral border of the scapula
Thickening of the lateral border of the scapula 		phenotype Finding 1 0.100 None 0
CUI: C1834384
Disease: Glenoid fossa hypoplasia
Glenoid fossa hypoplasia 		phenotype Finding 2 0.100 None 0
CUI: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs 		disease Congenital Abnormality 3 0.100 None 0
CUI: C1834392
Disease: Disproportionate prominence of the femoral medial condyle
Disproportionate prominence of the femoral medial condyle 		phenotype Finding 1 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype Finding 42 1 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: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		phenotype Finding 6 1 0.100 None 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		phenotype Finding 26 2 0.100 None 0
CUI: C1868158
Disease: Absence of pectoralis minor muscle
Absence of pectoralis minor muscle 		phenotype Finding 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C3805764
Disease: Biceps aplasia
Biceps aplasia 		phenotype Finding 1 0.100 None 0
CUI: C3805765
Disease: Quadriceps aplasia
Quadriceps aplasia 		phenotype Finding 1 0.100 None 0
CUI: C3810484
Disease: Triceps aplasia
Triceps aplasia 		phenotype Finding 1 0.100 None 0
CUI: C4021695
Disease: Hypoplastic radial head
Hypoplastic radial head 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025048
Disease: Elongated radius
Elongated radius 		disease Anatomical Abnormality 1 0.100 None 0