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: 23233
Gene Symbol: EXOC6B
EXOC6B 		exocyst complex component 6B 0.682 0.577 0.12
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1 		FLG antisense RNA 1 0.700 0.538
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1