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: 26353
Gene Symbol: HSPB8
HSPB8 		heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 1.000 3 1 2016 2018
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 2
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 1
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		docking protein 7 0.615 0.615 1.0E-04
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 1
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1 		pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 1