Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.110 Biomarker phenotype BEFREE This study reveals inter- and intrafamilial phenotypic variability in LGMD2I, with a preponderance of myocardiopathy and restrictive respiratory insufficiency. 19917824 2009
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.110 GeneticVariation phenotype BEFREE Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 11528383 2001
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.110 Biomarker phenotype HPO
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.110 Biomarker phenotype HPO
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.100 Biomarker phenotype HPO
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 284439
Gene Symbol: SLC25A42
SLC25A42 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2483
Gene Symbol: FRG1
FRG1 		0.100 Biomarker phenotype HPO
Entrez Id: 246329
Gene Symbol: STAC3
STAC3 		0.100 Biomarker phenotype HPO
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 Biomarker phenotype HPO
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		0.100 Biomarker phenotype HPO
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.100 Biomarker phenotype HPO
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2 		0.100 Biomarker phenotype HPO
Entrez Id: 10568
Gene Symbol: SLC34A2
SLC34A2 		0.100 Biomarker phenotype HPO
Entrez Id: 84667
Gene Symbol: HES7
HES7 		0.100 Biomarker phenotype HPO
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6 		0.100 Biomarker phenotype HPO
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4570
Gene Symbol: TRNN
TRNN 		0.100 Biomarker phenotype HPO