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: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 2
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 2
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 1
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 2
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 1
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		calpain 3 0.564 0.615 3.6E-19
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 2
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 4