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: 5395
Gene Symbol: PMS2
PMS2
P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 244 0.484 0.808 4.5E-27 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1101 0.320 0.885 1.4E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1119 0.319 0.885 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3258
Gene Symbol: HPT
HPT
hypoparathyroidism 71 0.593 0.692 0.010 None 1.000 1 0 2013 2013
Entrez Id: 324
Gene Symbol: APC
APC
P25054 APC regulator of WNT signaling pathway 703 0.373 0.962 1.00 0.010 None 1.000 1 0 1997 1997
Entrez Id: 26585
Gene Symbol: GREM1
GREM1
O60565 gremlin 1, DAN family BMP antagonist 179 0.508 0.808 0.47 0.010 None 1.000 1 0 2012 2012
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
Q53HV7 single-strand-selective monofunctional uracil-DNA glycosylase 1 1034 0.322 0.923 4.5E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1630
Gene Symbol: DCC
DCC
P43146 DCC netrin 1 receptor 279 0.471 0.808 0.99 0.010 None 1.000 1 0 1999 1999
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1045
Gene Symbol: CDX2
CDX2
Q99626 caudal type homeobox 2 Transcription factor 278 0.458 0.769 0.53 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
P46527 cyclin dependent kinase inhibitor 1B 454 0.409 0.769 0.62 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
P52945 pancreatic and duodenal homeobox 1 185 0.530 0.654 1.8E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1994
Gene Symbol: ELAVL1
ELAVL1
Q15717 ELAV like RNA binding protein 1 103 0.560 0.731 0.99 0.010 None 1.000 1 0 2009 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 50639
Gene Symbol: MBL3P
MBL3P
mannose-binding lectin family member 3, pseudogene 152 0.518 0.769 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
P35749 myosin heavy chain 11 161 0.528 0.731 0.77 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4586
Gene Symbol: MUC5AC
MUC5AC
P98088 mucin 5AC, oligomeric mucus/gel-forming Enzyme modulator 224 0.483 0.808 1.0E-08 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4090
Gene Symbol: SMAD5
SMAD5
Q99717 SMAD family member 5 Transcription factor 55 0.633 0.615 1.00 0.010 None 1.000 1 0 1999 1999
Entrez Id: 100
Gene Symbol: ADA
ADA
P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7097
Gene Symbol: TLR2
TLR2
O60603 toll like receptor 2 749 0.361 0.923 1.0E-06 0.020 None 0.500 2 1 2011 2018
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
P36894 bone morphogenetic protein receptor type 1A Kinase 203 0.522 0.731 0.90 1.000 definitive 0.978 46 49 1993 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Q13485 SMAD family member 4 Transcription factor 575 0.401 0.808 1.00 1.000 definitive 0.980 102 88 1997 2020