Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7084
Gene Symbol: TK2
TK2 		0.100 Biomarker phenotype HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker phenotype HPO
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		0.100 Biomarker phenotype HPO
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		0.100 Biomarker phenotype HPO
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		0.100 Biomarker phenotype HPO
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 Biomarker phenotype HPO
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		0.100 Biomarker phenotype HPO
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.100 Biomarker phenotype HPO
Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2 		0.100 Biomarker phenotype HPO
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 Biomarker phenotype HPO
Entrez Id: 1674
Gene Symbol: DES
DES 		0.100 Biomarker phenotype HPO
Entrez Id: 246243
Gene Symbol: RNASEH1
RNASEH1 		0.100 Biomarker phenotype HPO
Entrez Id: 4570
Gene Symbol: TRNN
TRNN 		0.100 Biomarker phenotype HPO
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.100 Biomarker phenotype HPO
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.100 Biomarker phenotype HPO
Entrez Id: 84987
Gene Symbol: COX14
COX14 		0.100 Biomarker phenotype HPO
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.100 Biomarker phenotype HPO
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10 		0.100 Biomarker phenotype HPO
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1 		0.030 Biomarker phenotype BEFREE Mutant mice for Hoxb1 were reported to present with facial weakness, resembling MBS. 26007620 2016
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.010 Biomarker phenotype BEFREE RYR1-associated myopathies should be included in the differential diagnosis of congenital ophthalmoplegia and facial weakness, even without clinical skeletal myopathy. 24091937 2013
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		0.010 Biomarker phenotype BEFREE We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. 28681861 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.300 Therapeutic phenotype CTD_human Prevention of delayed traumatic facial palsy. 4327920 1971