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: 55670
Gene Symbol: PEX26
PEX26
Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1
P48651 phosphatidylserine synthase 1 Enzyme 94 0.610 0.615 0.15 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
Q13751 laminin subunit beta 3 Enzyme modulator 115 0.558 0.692 2.3E-15 0.110 None 1.000 1 0 2016 2016
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
Q9UMD9 collagen type XVII alpha 1 chain 138 0.545 0.769 2.3E-27 0.110 None 1.000 1 0 2006 2006
Entrez Id: 326
Gene Symbol: AIRE
AIRE
O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.110 None 1.000 1 0 2016 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.110 None 1.000 1 0 2008 2008
Entrez Id: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 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: 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: 5116
Gene Symbol: PCNT
PCNT
O95613 pericentrin 156 0.564 0.808 4.0E-58 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 184 0.553 0.731 1.00 0.100 None 0 0
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
P03956 matrix metallopeptidase 1 Enzyme 589 0.385 0.885 7.7E-18 0.100 None 0 0
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
Q6ZYL4 general transcription factor IIH subunit 5 152 0.556 0.769 4.5E-02 0.100 None 0 0
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
Q13753 laminin subunit gamma 2 Enzyme modulator 602 0.389 0.923 2.9E-12 0.100 None 0 0
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3
Q16787 laminin subunit alpha 3 Enzyme modulator 110 0.576 0.731 8.8E-46 0.100 None 0 0
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
P02533 keratin 14 173 0.530 0.731 2.0E-04 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
Q9H237 porcupine O-acyltransferase Enzyme 162 0.545 0.692 1.00 0.100 None 0 0
Entrez Id: 55746
Gene Symbol: NUP133
NUP133
Q8WUM0 nucleoporin 133 50 0.678 0.577 9.3E-05 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 0
Entrez Id: 93650
Gene Symbol: ACP4
ACP4
Q9BZG2 acid phosphatase 4 Enzyme 9 0.805 0.269 8.6E-15 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
P36776 lon peptidase 1, mitochondrial Enzyme 197 0.517 0.808 1.00 0.100 None 0 0
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
O95832 claudin 1 Cell-cell junction 234 0.481 0.808 1.0E-03 0.100 None 0 0
Entrez Id: 8675
Gene Symbol: STX16
STX16
O14662 syntaxin 16 Transporter 58 0.656 0.538 0.48 0.100 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
Q13950 RUNX family transcription factor 2 Transcription factor 405 0.437 0.846 0.95 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.100 None 0 0