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: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		phenotype Finding 17 0.100 None 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0202251
Disease: Vitamin B6 measurement
Vitamin B6 measurement 		phenotype Laboratory Procedure 5 11 0.100 None 1.000 2 2 2009 2015
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		phenotype Laboratory Procedure 13 22 0.100 None 1.000 1 1 2009 2009
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 2 1995 2016
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 2 1995 2016
CUI: C1855828
Disease: Vertebral clefting
Vertebral clefting 		phenotype Finding 2 0.100 None 0
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.010 None 1.000 1 2018 2018
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.200 None 1.000 1 2 2008 2008
CUI: C1860202
Disease: Unossified vertebral bodies
Unossified vertebral bodies 		phenotype Finding 2 0.100 None 0
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2011 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 2 1995 2016
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.300 None 1.000 2 1995 2016
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.010 None 1.000 1 2007 2007
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 23 2 0.100 None 0
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
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
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0 2
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 2 1995 2016
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 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