Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		0.100 Biomarker disease HPO
CUI: C3887667
Disease: Retrocollis
Retrocollis 		0.100 Biomarker disease HPO
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		0.100 Biomarker disease HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 Biomarker disease BEFREE <i>PRKRA</i>/PACT Expression Promotes Chemoresistance of Mucinous Ovarian Cancer. 30305341 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 Biomarker disease BEFREE <i>PRKRA</i>/PACT Expression Promotes Chemoresistance of Mucinous Ovarian Cancer. 30305341 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 Biomarker disease BEFREE <i>PRKRA</i>/PACT Expression Promotes Chemoresistance of Mucinous Ovarian Cancer. 30305341 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. 19157930 2009
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.400 Biomarker group BEFREE DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. 19157930 2009
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.010 GeneticVariation disease BEFREE DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. 19157930 2009
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. 22842711 2012
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.400 Biomarker group BEFREE DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. 22842711 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.480 Biomarker group BEFREE DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. 22842711 2012
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype GENOMICS_ENGLAND PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. 25142429 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype GENOMICS_ENGLAND PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. 25142429 2014
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		0.010 GeneticVariation disease BEFREE PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. 25142429 2014
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 CausalMutation disease CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
CUI: C0206617
Disease: Cardiovirus Infections
Cardiovirus Infections 		0.010 Biomarker group BEFREE PACT is required for MDA5-mediated immunoresponses triggered by Cardiovirus infection via interaction with LGP2. 29032202 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE PRKRA is not an unusual cause of idiopathic dystonia. 29279192 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.400 Biomarker group BEFREE PRKRA is not an unusual cause of idiopathic dystonia. 29279192 2018
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 GeneticVariation disease UNIPROT A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 GeneticVariation phenotype LHGDN A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 GeneticVariation phenotype BEFREE A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT. 26231208 2015