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: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		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: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype 0.100 None 0 2