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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 13 1 1998 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2013 2017
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		disease Disease or Syndrome 1 7 0.600 strong 1.000 2 7 2015 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 2 2019 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 2015 2015
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 1.000 1 1 2019 2019
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 1.000 1 1 2019 2019
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 1.000 1 1 2019 2019
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 1.000 1 1 2019 2019
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 2 2019 2019
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 1.000 1 1 2019 2019
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		disease Finding 9 3 0.300 moderate 1.000 1 2016 2016
CUI: C4540398
Disease: Thick ear helices
Thick ear helices 		phenotype Finding 1 1 0.100 None 1.000 1 1 2019 2019
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0
CUI: C0240701
Disease: Small penis
Small penis 		phenotype Finding 11 2 0.100 None 0
CUI: C0277873
Disease: Nasal Flaring
Nasal Flaring 		phenotype Sign or Symptom 5 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.100 None 0