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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease 0.100 None 0 2
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease 0.100 None 0 2
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease 0.100 None 0 2
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		lysine demethylase 5C 0.581 0.538 1.00
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease 0.100 None 0 1