Source: CLINVAR

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: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		disease 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1