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: 284058
Gene Symbol: KANSL1
KANSL1
Q7Z3B3 KAT8 regulatory NSL complex subunit 1 140 0.592 0.731 1.00 0.300 None 1.000 2 0 2012 2012
Entrez Id: 113189
Gene Symbol: CHST14
CHST14
Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 89 0.638 0.654 0.45 0.300 None 1.000 1 0 2010 2010
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.300 None 1.000 1 0 2009 2009
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.300 None 1.000 1 0 2004 2004
Entrez Id: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.300 None 1.000 1 0 1999 1999
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
Q7Z3V4 ubiquitin protein ligase E3B 119 0.590 0.692 4.2E-08 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
Q9H173 SIL1 nucleotide exchange factor 115 0.584 0.731 1.2E-02 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: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
Q9BT40 inositol polyphosphate-5-phosphatase K Enzyme 103 0.587 0.654 4.2E-05 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.100 None 0 0
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
P13473 lysosomal associated membrane protein 2 Transporter 134 0.552 0.731 0.27 0.100 None 0 0
Entrez Id: 3652
Gene Symbol: IPP
IPP
Q9Y573 intracisternal A particle-promoted polypeptide 19 0.760 0.308 2.1E-05 0.010 None 1.000 1 0 2017 2017