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: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.070 None 1.000 7 1997 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2015 2017
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2007 2007
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		phenotype Organ or Tissue Function 41 259 0.100 None 1.000 1 1 2007 2007
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia 		disease Neoplastic Process 119 1 0.010 None 1.000 1 2010 2010
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2016 2016
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2014 2014
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		disease Neoplastic Process 120 2 0.010 None 1.000 1 2010 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2015 2015
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		disease Disease or Syndrome 18 0.010 None 1.000 1 2012 2012
CUI: C2697788
Disease: Interleukin 8 Measurement
Interleukin 8 Measurement 		phenotype Laboratory Procedure 5 5 0.100 None 1.000 1 1 2017 2017
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		phenotype Finding 41 259 0.100 None 1.000 1 1 2007 2007
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		disease Disease or Syndrome 25 6 0.010 None 1.000 1 2018 2018
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		phenotype Anatomical Abnormality 24 5 0.010 None 1.000 1 2016 2016
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		phenotype Finding 22 2 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype Finding 93 3 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0877243
Disease: Increased serum serotonin
Increased serum serotonin 		phenotype Finding 8 0.100 None 0
CUI: C1386091
Disease: Acromicria
Acromicria 		disease Congenital Abnormality 13 0.100 None 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype Finding 65 12 0.100 None 0