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: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		disease Disease or Syndrome 45 3 0.060 None 1.000 6 2009 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 2003 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2018 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2016 2016
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2016 2016
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		disease Disease or Syndrome 2 0.200 None 1.000 1 2009 2009
CUI: C3280616
Disease: CRANIOECTODERMAL DYSPLASIA 4
CRANIOECTODERMAL DYSPLASIA 4 		disease Disease or Syndrome 2 2 0.200 None 1.000 1 2009 2009
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis 		phenotype Finding 3 0.100 None 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		phenotype Finding 7 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1857499
Disease: Bony paranasal bossing
Bony paranasal bossing 		phenotype Finding 2 0.100 None 0
CUI: C1857505
Disease: Club-shaped distal femur
Club-shaped distal femur 		phenotype Finding 3 0.100 None 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		phenotype Finding 25 0.100 None 0
CUI: C4016917
Disease: CHONDROCALCINOSIS 2, SPORADIC
CHONDROCALCINOSIS 2, SPORADIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		phenotype Anatomical Abnormality 24 5 0.100 None 0
CUI: C4022015
Disease: Calcification of cartilage
Calcification of cartilage 		phenotype Finding 3 0.100 None 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0