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: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 1.000 3 1 2011 2015
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 0
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 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12
Q93074 mediator complex subunit 12 Transcription factor 340 0.476 0.769 1.00 0.100 None 0 0
Entrez Id: 790
Gene Symbol: CAD
CAD
P27708 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Enzyme 249 0.482 0.846 1.00 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
P52788 spermine synthase 263 0.491 0.846 0.97 0.100 None 0 0
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
Q9UPW6 SATB homeobox 2 Transcription factor 233 0.503 0.769 1.00 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 0 1
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
O75844 zinc metallopeptidase STE24 Enzyme 265 0.517 0.731 8.9E-16 0.100 None 0 0
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 205 0.518 0.846 1.00 0.100 None 0 1
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
Q13426 X-ray repair cross complementing 4 192 0.528 0.769 8.3E-07 0.100 None 0 0
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
Q9Y5Y0 FLVCR heme transporter 1 Transporter 188 0.529 0.885 1.3E-03 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.100 None 0 0
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.100 None 1.000 1 6 2015 2015
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.100 None 0 0
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 0
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 3064
Gene Symbol: HTT
HTT
P42858 huntingtin 188 0.548 0.654 1.00 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0