Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.120 GeneticVariation phenotype BEFREE Most of the patients reported here with THAP1 mutations had the clinical features of predominantly laryngeal or oromandibular dystonia. 23180184 2013
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.120 GeneticVariation phenotype BEFREE Three of our patients had a nonsense or frameshift THAP1 mutation and the clinical features of laryngeal or oromandibular dystonia. 20211909 2010
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.120 Biomarker phenotype HPO
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.100 Biomarker phenotype HPO
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		0.100 Biomarker phenotype HPO
Entrez Id: 63982
Gene Symbol: ANO3
ANO3 		0.100 Biomarker phenotype HPO
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.100 Biomarker phenotype HPO
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A 		0.100 Biomarker phenotype HPO
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14 		0.100 Biomarker phenotype HPO
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		0.100 Biomarker phenotype HPO
Entrez Id: 80347
Gene Symbol: COASY
COASY 		0.100 Biomarker phenotype HPO
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.100 Biomarker phenotype HPO
Entrez Id: 4958
Gene Symbol: OMD
OMD 		0.010 Biomarker phenotype BEFREE Jaw-opening oromandibular dystonia (O-OMD) is a clinical subtype of OMD, commonly resistant to treatment. 31512647 2020
Entrez Id: 100216344
Gene Symbol: DYT17
DYT17 		0.010 GeneticVariation phenotype BEFREE Phenotype numbers were cervical dystonia 410 (69.2%), blepharospasm 102 (17.2%), focal hand dystonia 39 (6.6%), spasmodic dysphonia 18 (3.0%), musician's dystonia 17 (2.9%) and oromandibular dystonia six (1.0%). 27647704 2017
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.010 GeneticVariation phenotype BEFREE GCH1 mutation in a patient with adult-onset oromandibular dystonia. 10078749 1999