TGDS, TDP-glucose 4,6-dehydratase, 23483

N. diseases: 63; N. variants: 7
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: C1844887
Disease: Catel Manzke syndrome
Catel Manzke syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 6 0.730 None 1.000 3 6 2014 2020
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.400 strong 1.000 1 2014 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 7 1 2003 2017
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 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: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C4023921
Disease: Oral synechia
Oral synechia 		phenotype Finding 3 0.100 None 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 17 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 141 14 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0