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: 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: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 2 1 2016 2017
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: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.120 None 1.000 2 1 2016 2018
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: 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: 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: 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: 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: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 1.000 1 1 2017 2017
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: 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: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
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: 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: 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: 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: 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: 83604
Gene Symbol: TMEM47
TMEM47
transmembrane protein 47 0.821 0.154 0.80
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
exosome component 9 0.705 0.423 1.8E-11
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.120 None 1.000 0 1 2018 2020
Entrez Id: 10916
Gene Symbol: MAGED2
MAGED2
MAGE family member D2 0.691 0.462 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 1
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: 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