Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 1 1 2014 2017
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 2 1 2016 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.200 None 1.000 0 2 1997 2012
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 0 1 2006 2006
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 0 1 2013 2013
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 4
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 1 2 2017 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.120 None 1.000 1 7 2015 2019
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
histidyl-tRNA synthetase 1 0.569 0.808 2.4E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.160 None 1.000 0 1 2006 2019
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
misato mitochondrial distribution and morphology regulator 1 0.582 0.692 1.6E-09
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.120 None 1.000 0 2 2018 2019
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 767
Gene Symbol: CA8
CA8
carbonic anhydrase 8 0.595 0.654 8.3E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2
ovo like zinc finger 2 0.633 0.462 0.71
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.120 None 1.000 0 2 2019 2019
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.663 0.462 3.0E-11
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 2 1 2016 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
glutamate ionotropic receptor delta type subunit 2 0.670 0.500 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.110 None 1.000 0 1 2013 2013