Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015 1993
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997 2012
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464 2018
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.020 AlteredExpression disease BEFREE We postulate that exercise will attenuate cortical atrophy and synaptic loss inherent to neurodegenerative disorders - many of which also exhibit aberrant down-regulation of BDNF. 30326283 2018
Entrez Id: 10563
Gene Symbol: CXCL13
CXCL13 		0.010 AlteredExpression disease BEFREE BAFF Index and CXCL13 levels in the cerebrospinal fluid associate respectively with intrathecal IgG synthesis and cortical atrophy in multiple sclerosis at clinical onset. 28095856 2017
Entrez Id: 10673
Gene Symbol: TNFSF13B
TNFSF13B 		0.010 AlteredExpression disease BEFREE BAFF Index and CXCL13 levels in the cerebrospinal fluid associate respectively with intrathecal IgG synthesis and cortical atrophy in multiple sclerosis at clinical onset. 28095856 2017
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.010 AlteredExpression disease BEFREE The FTLD up-regulation of synaptophysin is disease specific (P < 0.0001), and is not influenced by age (P = 0.787) or cortical atrophy (P = 0.248). 21073671 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.110 Biomarker disease HPO
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B 		0.110 Biomarker disease BEFREE SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. 11171892 2001
Entrez Id: 2896
Gene Symbol: GRN
GRN 		0.110 Biomarker disease HPO
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B 		0.110 Biomarker disease HPO
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		0.110 Biomarker disease BEFREE Neuropathological investigation revealed enlarged ventricles, marked cerebral cortical atrophy and Purkinje cell loss, less-prominent cerebellar and pontine atrophy, and neuronal intranuclear ubiquitin-positive inclusions, consistent with Marinesco bodies, which did not stain for long polyglutamine tracts, alpha-synuclein, tau, or transactive response DNA-binding protein 43. 26340331 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.110 Biomarker disease BEFREE Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice. 26806603 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.110 Biomarker disease HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.110 Biomarker disease HPO
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		0.110 Biomarker disease HPO
Entrez Id: 2018
Gene Symbol: EMX2
EMX2 		0.100 Biomarker disease HPO
Entrez Id: 5073
Gene Symbol: PARN
PARN 		0.100 Biomarker disease HPO
Entrez Id: 54941
Gene Symbol: RNF125
RNF125 		0.100 Biomarker disease HPO
Entrez Id: 6515
Gene Symbol: SLC2A3
SLC2A3 		0.100 Biomarker disease HPO
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		0.100 Biomarker disease HPO