Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 5917
Gene Symbol: RARS1
RARS1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 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: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker phenotype HPO
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: 4337
Gene Symbol: MOCS1
MOCS1 		0.100 Biomarker phenotype HPO
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		0.100 Biomarker phenotype HPO
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		0.100 Biomarker phenotype HPO
Entrez Id: 4538
Gene Symbol: ND4
ND4 		0.100 Biomarker phenotype HPO
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		0.100 Biomarker phenotype HPO
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.100 Biomarker phenotype HPO
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423 		0.100 Biomarker phenotype HPO
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		0.100 Biomarker phenotype HPO
Entrez Id: 9361
Gene Symbol: LONP1
LONP1 		0.100 Biomarker phenotype HPO
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.100 Biomarker phenotype HPO
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW 		0.100 Biomarker phenotype HPO
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2 		0.100 Biomarker phenotype HPO
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2 		0.100 Biomarker phenotype HPO
Entrez Id: 149461
Gene Symbol: CLDN19
CLDN19 		0.100 Biomarker phenotype HPO
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		0.100 Biomarker phenotype HPO
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		0.100 Biomarker phenotype HPO
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		0.100 Biomarker phenotype HPO
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.100 Biomarker phenotype HPO
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		0.100 Biomarker phenotype HPO