Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 65018
Gene Symbol: PINK1
PINK1 		0.010 GeneticVariation disease BEFREE Parkin mutation in addition to POLG1 or PINK1 mutation may be associated with serious AA. 28716221 2017
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		0.010 GeneticVariation disease BEFREE We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages. 23092955 2013
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.010 GeneticVariation disease BEFREE GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype. 23218673 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.010 GeneticVariation disease BEFREE Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 25476234 2014
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.010 GeneticVariation disease BEFREE Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe "overlap" phenotype. 21964829 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.010 GeneticVariation disease BEFREE Parkin mutation in addition to POLG1 or PINK1 mutation may be associated with serious AA. 28716221 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		0.010 GeneticVariation disease BEFREE A 42-year-old man with exon 2 heterozygous deletion and exon 4 heterozygous deletion in the PARK2 gene showed five unexpected AA for several 12h. 28716221 2017
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1 		0.100 Biomarker disease HPO
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2 		0.100 Biomarker disease HPO
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.100 Biomarker disease HPO
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		0.100 Biomarker disease HPO
Entrez Id: 9829
Gene Symbol: DNAJC6
DNAJC6 		0.100 Biomarker disease HPO
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3 		0.100 Biomarker disease HPO
Entrez Id: 4593
Gene Symbol: MUSK
MUSK 		0.100 Biomarker disease HPO
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.100 Biomarker disease HPO
Entrez Id: 1272
Gene Symbol: CNTN1
CNTN1 		0.100 Biomarker disease HPO
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.100 Biomarker disease HPO
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.100 Biomarker disease HPO
Entrez Id: 4927
Gene Symbol: NUP88
NUP88 		0.100 Biomarker disease HPO
Entrez Id: 55737
Gene Symbol: VPS35
VPS35 		0.100 Biomarker disease HPO
Entrez Id: 23317
Gene Symbol: DNAJC13
DNAJC13 		0.100 Biomarker disease HPO
Entrez Id: 1981
Gene Symbol: EIF4G1
EIF4G1 		0.100 Biomarker disease HPO
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.100 Biomarker disease HPO
Entrez Id: 5420
Gene Symbol: PODXL
PODXL 		0.100 Biomarker disease HPO