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: 780903
Gene Symbol: HHT3
HHT3
Osler-Rendu-Weber syndrome 3 1 1.000 0.115 0.010 None 1.000 1 0 2006 2006
Entrez Id: 79174
Gene Symbol: CRELD2
CRELD2
Q6UXH1 cysteine rich with EGF like domains 2 7 0.839 0.269 2.8E-08 0.010 None 1.000 1 0 2019 2019
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: 79577
Gene Symbol: CDC73
CDC73
Q6P1J9 cell division cycle 73 144 0.543 0.615 1.00 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: 659
Gene Symbol: BMPR2
BMPR2
Q13873 bone morphogenetic protein receptor type 2 Kinase 146 0.538 0.654 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3258
Gene Symbol: HPT
HPT
hypoparathyroidism 71 0.593 0.692 0.010 None 1.000 1 0 2013 2013
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: 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: 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: 6295
Gene Symbol: SAG
SAG
P10523 S-antigen visual arrestin Enzyme modulator 97 0.570 0.731 1.5E-16 0.010 None 1.000 1 0 2015 2015
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
P37023 activin A receptor like type 1 Kinase 224 0.493 0.769 9.7E-04 0.030 None 1.000 3 0 2006 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Q9UIF7 mutY DNA glycosylase Enzyme 156 0.521 0.769 1.3E-18 0.020 None 1.000 2 0 2007 2008
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: 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: 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: 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
Entrez Id: 6794
Gene Symbol: STK11
STK11
Q15831 serine/threonine kinase 11 Kinase 372 0.435 0.808 0.99 0.030 None 1.000 3 0 1999 2013
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: 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: 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: 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: 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: 617
Gene Symbol: BCS1L
BCS1L
Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 172 0.534 0.808 4.7E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2022
Gene Symbol: ENG
ENG
P17813 endoglin 371 0.446 0.846 1.00 0.630 limited 1.000 7 0 2005 2016