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: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 2
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 2
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 2
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 56171
Gene Symbol: DNAH7
DNAH7 		dynein axonemal heavy chain 7 0.769 0.346 1.4E-71
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0013404
Disease: Dyspnea
Dyspnea 		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: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 29888
Gene Symbol: STRN4
STRN4 		striatin 4 0.792 0.346 0.99
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		G protein subunit alpha q 0.516 0.808 0.98
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 1
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		cholinergic receptor nicotinic delta subunit 0.641 0.462 5.4E-09
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 2
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 2