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: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1