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: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 25 0.484 0.731 1.00 0.120 None 1.000 0 1 2016 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 70 0.303 0.885 1.00 0.110 None 1.000 3 1 1989 2017
Entrez Id: 120
Gene Symbol: ADD3
ADD3
Q9UEY8 adducin 3 Cellular structure 3 0.641 0.500 1.00 0.110 None 1.000 0 1 2013 2013
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
P08559 pyruvate dehydrogenase E1 subunit alpha 1 22 0.581 0.538 0.99 0.110 None 1.000 0 1 2019 2019
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 1.000 6 2 2000 2010
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
P04350 tubulin beta 4A class IVa Cellular structure 21 0.608 0.615 0.11 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 2
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 3
Entrez Id: 51102
Gene Symbol: MECR
MECR
Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 8 0.736 0.385 2.2E-05 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 44 0.544 0.615 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: 23389
Gene Symbol: MED13L
MED13L
Q71F56 mediator complex subunit 13L 30 0.617 0.538 1.00 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
O60281 zinc finger protein 292 Enzyme 26 0.695 0.423 1.00 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 24 0.579 0.577 1.00 0.100 None 0 1