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: 23299
Gene Symbol: BICD2
BICD2
Q8TD16 BICD cargo adaptor 2 28 0.615 0.731 0.98 0.430 strong 1.000 0 2 2016 2018
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 13 0.597 0.615 1.8E-04 0.400 None 1.000 1 2 2020 2020
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.140 None 1.000 0 1 2014 2018
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 30 0.529 0.769 8.1E-07 0.130 None 1.000 2 2 2017 2020
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 34 0.489 0.808 1.6E-29 0.130 None 1.000 1 4 2016 2020
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 2 0.666 0.385 6.6E-05 0.110 None 1.000 0 3 2015 2015
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 36 0.513 0.654 0.91 0.100 None 1.000 1 1 2020 2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
Q13702 receptor associated protein of the synapse 7 0.593 0.731 1.5E-03 0.100 None 1.000 1 1 2020 2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 11 0.612 0.654 1.1E-12 0.100 None 1.000 1 1 2020 2020
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 16 0.526 0.769 3.4E-49 0.100 None 1.000 1 1 2020 2020
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 6 0.498 0.731 1.2E-04 0.100 None 1.000 1 2 2020 2020
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
Q9Y6X0 SET binding protein 1 14 0.503 0.808 1.00 0.100 None 1.000 1 1 2020 2020
Entrez Id: 342035
Gene Symbol: GLDN
GLDN
Q6ZMI3 gliomedin 7 0.769 0.346 2.6E-13 0.100 None 1.000 1 1 2020 2020
Entrez Id: 3560
Gene Symbol: IL2RB
IL2RB
P14784 interleukin 2 receptor subunit beta Receptor 5 0.491 0.846 0.29 0.100 None 0 1
Entrez Id: 7976
Gene Symbol: FZD3
FZD3
Q9NPG1 frizzled class receptor 3 G-protein coupled receptor 4 0.659 0.577 4.4E-04 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 45 0.656 0.423 1.6E-08 0.100 None 0 1