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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease 0.100 None 0 0
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		troponin T1, slow skeletal type 0.633 0.577 7.0E-14
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease 0.100 None 0 0