Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C4538604
Disease: Alpha-aminoadipic aciduria
Alpha-aminoadipic aciduria 		phenotype 0.100 None 0 0