Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.200 None 1.000 0 2 1997 2012
Entrez Id: 23064
Gene Symbol: SETX
SETX 		Q7Z333 senataxin Enzyme 10 0.570 0.731 0.95 0.160 None 1.000 0 1 2006 2019
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		Q8N766 ER membrane protein complex subunit 1 15 0.700 0.462 6.7E-26 0.120 None 1.000 2 1 2016 2018
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 44 0.559 0.692 1.00 0.120 None 1.000 1 7 2015 2019
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		Q9UPW5 ATP/GTP binding protein 1 Enzyme 25 0.650 0.538 0.42 0.120 None 1.000 0 2 2019 2019
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1 		Q9BUK6 misato mitochondrial distribution and morphology regulator 1 15 0.582 0.692 1.6E-09 0.120 None 1.000 0 2 2018 2019
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		Q06265 exosome component 9 Enzyme 19 0.705 0.423 1.8E-11 0.120 None 1.000 0 1 2018 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 41 0.469 0.846 0.97 0.110 None 1.000 1 1 2014 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.110 None 1.000 1 2 2017 2017
Entrez Id: 2895
Gene Symbol: GRID2
GRID2 		O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 5 0.670 0.500 1.00 0.110 None 1.000 0 1 2013 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.110 None 1.000 0 1 2015 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.110 None 1.000 0 1 2006 2006
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		Q9Y5W7 sorting nexin 14 Enzyme modulator 9 0.659 0.423 6.1E-17 0.110 None 1.000 0 1 2015 2015
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		Q8NF91 spectrin repeat containing nuclear envelope protein 1 21 0.511 0.846 3.2E-52 0.110 None 1.000 0 1 2013 2013
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		O00429 dynamin 1 like Enzyme modulator 11 0.475 0.808 5.7E-04 0.100 None 1.000 2 1 2016 2016
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
Entrez Id: 51067
Gene Symbol: YARS2
YARS2 		Q9Y2Z4 tyrosyl-tRNA synthetase 2 Enzyme 13 0.663 0.462 3.0E-11 0.100 None 1.000 2 1 2016 2016
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		Q8N2K0 abhydrolase domain containing 12 Enzyme 20 0.666 0.385 1.9E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2 		Q9BRP0 ovo like zinc finger 2 5 0.633 0.462 0.71 0.100 None 1.000 1 1 2017 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 51 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		Q9BQP7 mitochondrial genome maintenance exonuclease 1 4 0.695 0.423 1.8E-03 0.100 None 1.000 1 1 2017 2017
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		Q96AA3 RFT1 homolog 13 0.700 0.500 3.7E-13 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		Q9BQJ4 transmembrane protein 47 6 0.821 0.154 0.80 0.100 None 0 1
Entrez Id: 767
Gene Symbol: CA8
CA8 		P35219 carbonic anhydrase 8 6 0.595 0.654 8.3E-03 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1