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: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 3 3 2010 2019
CUI: C0202251
Disease: Vitamin B6 measurement
Vitamin B6 measurement 		phenotype Laboratory Procedure 5 11 0.100 None 1.000 2 2 2009 2015
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2007 2007
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2020 2020
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		phenotype Laboratory Procedure 13 22 0.100 None 1.000 1 1 2009 2009
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation 		disease Congenital Abnormality 17 3 0.010 None 1.000 1 2019 2019
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0543918
Disease: SCHIZOPHRENIA 10
SCHIZOPHRENIA 10 		disease Mental or Behavioral Dysfunction 10 1 0.010 None 1.000 1 2018 2018
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		phenotype Sign or Symptom 34 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C2363774
Disease: Neutrophilic asthma
Neutrophilic asthma 		disease Disease or Syndrome 40 2 0.010 None 1.000 1 2014 2014
CUI: C2363819
Disease: Paucigranulocytic asthma
Paucigranulocytic asthma 		disease Disease or Syndrome 10 0.010 None 1.000 1 2014 2014
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2019 2019
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: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0
CUI: C0426901
Disease: Short leg
Short leg 		phenotype Finding 7 1 0.100 None 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		phenotype Finding 10 1 0.100 None 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		phenotype Finding 13 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		phenotype Finding 17 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C1855815
Disease: Skin dimple over apex of long bone angulation
Skin dimple over apex of long bone angulation 		phenotype Finding 1 0.100 None 0