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: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.010 None 1.000 1 2018 2018
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.010 None 1.000 1 2018 2018
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.010 None 1.000 1 2018 2018
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 2
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		phenotype Finding 16 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4 		disease Disease or Syndrome 1 0.500 limited 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4021849
Disease: Conjunctival hamartoma
Conjunctival hamartoma 		disease Disease or Syndrome 10 0.100 None 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4073228
Disease: Abnormality of buccal mucosa
Abnormality of buccal mucosa 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2019 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2019 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2019 2019
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2016 2016
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.370 None 1.000 7 2 2010 2017
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 20 2 0.100 None 0