Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		0.400 Biomarker phenotype GENOMICS_ENGLAND These results suggest that this novel mutation is associated with the congenital nystagmus observed in this Chinese family and further support that GPR143 mutations are the underlying pathogenesis of the molecular mechanism for congenital nystagmus. 19390656 2009
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		0.400 Biomarker phenotype HPO
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.400 Biomarker phenotype HPO
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker phenotype HPO
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.100 Biomarker phenotype HPO
Entrez Id: 11020
Gene Symbol: IFT27
IFT27 		0.100 Biomarker phenotype HPO
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A 		0.100 Biomarker phenotype HPO
Entrez Id: 4099
Gene Symbol: MAG
MAG 		0.100 Biomarker phenotype HPO
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.100 Biomarker phenotype HPO
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		0.100 Biomarker phenotype HPO
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		0.100 Biomarker phenotype HPO
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 Biomarker phenotype HPO
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD 		0.100 Biomarker phenotype HPO
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		0.100 Biomarker phenotype HPO
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		0.100 Biomarker phenotype HPO
Entrez Id: 388939
Gene Symbol: PCARE
PCARE 		0.100 Biomarker phenotype HPO
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		0.100 Biomarker phenotype HPO
Entrez Id: 1001
Gene Symbol: CDH3
CDH3 		0.100 Biomarker phenotype HPO
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.100 Biomarker phenotype HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.100 Biomarker phenotype HPO
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		0.100 Biomarker phenotype HPO
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.100 Biomarker phenotype HPO
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		0.100 Biomarker phenotype HPO