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: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 37 0.705 0.654 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
O76024 wolframin ER transmembrane glycoprotein 24 0.528 0.846 1.6E-38 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
Q14938 nuclear factor I X Nucleic acid binding 23 0.547 0.769 1.00 0.100 None 0 2
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
Q00872 myosin binding protein C1 18 0.666 0.462 4.8E-05 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 61 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 51 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.100 None 0 2
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 38 0.518 0.846 1.00 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
Q8N2C7 unc-80 homolog, NALCN channel complex subunit 63 0.626 0.462 5.2E-02 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 25 0.650 0.538 0.42 0.100 None 0 2
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
P15882 chimerin 1 22 0.573 0.615 3.1E-02 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.100 None 0 1