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: 3745
Gene Symbol: KCNB1
KCNB1
potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS
ST20-MTHFS readthrough 0.805 0.115 7.6E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 2
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
modulator of VRAC current 1 0.585 0.769 3.2E-08
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM
hepatic and glial cell adhesion molecule 0.621 0.500 0.87
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.595 0.692 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
discs large MAGUK scaffold protein 3 0.544 0.615 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1
AQP4 antisense RNA 1 0.751 0.577
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 814
Gene Symbol: CAMK4
CAMK4
calcium/calmodulin dependent protein kinase IV 0.621 0.654 0.51
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS
methenyltetrahydrofolate synthetase 0.678 0.500 2.6E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 2
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.100 None 0 1
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.110 None 1.000 1 3 2013 2016
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.110 None 1.000 1 1 2017 2017
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.110 None 1.000 1 1 2019 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.110 None 1.000 0 1 2019 2019
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.110 None 1.000 0 1 2019 2019