Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker phenotype GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
Entrez Id: 84706
Gene Symbol: GPT2
GPT2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.100 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		0.100 GeneticVariation phenotype CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5 		0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 Biomarker phenotype HPO
Entrez Id: 85465
Gene Symbol: SELENOI
SELENOI 		0.100 Biomarker phenotype HPO
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1 		0.100 Biomarker phenotype HPO
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.100 Biomarker phenotype HPO
Entrez Id: 2581
Gene Symbol: GALC
GALC 		0.100 Biomarker phenotype HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker phenotype HPO
Entrez Id: 5915
Gene Symbol: RARB
RARB 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 Biomarker phenotype HPO
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2 		0.100 Biomarker phenotype HPO
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 Biomarker phenotype HPO
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		0.100 Biomarker phenotype HPO
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.100 Biomarker phenotype HPO
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		0.100 Biomarker phenotype HPO