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 8 1 1999 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 8 1 1999 2013
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.070 None 1.000 7 1 2014 2017
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		disease Disease or Syndrome 1 2 0.700 None 1.000 5 2 2004 2017
CUI: C0231230
Disease: Fatigability
Fatigability 		phenotype Sign or Symptom 29 4 0.010 None 1.000 1 2019 2019
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		disease Disease or Syndrome 72 2 0.010 None 1.000 1 2017 2017
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 1.000 1 1 2016 2016
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 1 1 2013 2013
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 1.000 1 1 2016 2016
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 1.000 1 1 2016 2016
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 1 1 2016 2016
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 1.000 1 1 2016 2016
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0