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: 11154
Gene Symbol: AP4S1
AP4S1
Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 64 0.674 0.385 1.7E-06 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
P55265 adenosine deaminase RNA specific Enzyme 256 0.501 0.808 2.6E-02 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 11149
Gene Symbol: BVES
BVES
Q8NE79 blood vessel epicardial substance 43 0.722 0.308 9.3E-06 0.100 None 0 0
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
P43155 carnitine O-acetyltransferase Enzyme 59 0.656 0.577 9.5E-12 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 0.100 None 0 0
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6
O75190 DnaJ heat shock protein family (Hsp40) member B6 65 0.659 0.462 0.85 0.100 None 0 0
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.100 None 0 0
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
Q15303 erb-b2 receptor tyrosine kinase 4 Kinase 317 0.455 0.846 1.00 0.100 None 0 0
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
Q9BYI3 family with sequence similarity 126 member A 50 0.682 0.423 0.12 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 2
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 55958
Gene Symbol: KLHL9
KLHL9
Q9P2J3 kelch like family member 9 18 0.839 0.154 0.82 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
O75197 LDL receptor related protein 5 283 0.485 0.846 0.51 0.100 None 0 0
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 2
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0 0
Entrez Id: 23636
Gene Symbol: NUP62
NUP62
P37198 nucleoporin 62 Transporter 273 0.470 0.885 0.95 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 68 0.650 0.423 6.3E-04 0.100 None 0 2