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: 10117
Gene Symbol: ENAM
ENAM
Q9NRM1 enamelin 30 0.674 0.346 1.3E-12 0.020 None 1.000 2 0 2003 2011
Entrez Id: 10899
Gene Symbol: JTB
JTB
O76095 jumping translocation breakpoint 64 0.615 0.769 0.42 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.110 None 1.000 1 0 2018 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
P10070 GLI family zinc finger 2 351 0.446 0.846 0.97 0.110 None 1.000 1 0 2019 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
P05019 insulin like growth factor 1 1206 0.318 0.885 0.27 0.200 None 1.000 1 0 2012 2012
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
P23759 paired box 7 78 0.597 0.538 0.14 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
Q99697 paired like homeodomain 2 248 0.489 0.808 0.98 0.010 None 1.000 1 0 2017 2017
Entrez Id: 56259
Gene Symbol: CTNNBL1
CTNNBL1
Q8WYA6 catenin beta like 1 68 0.621 0.731 9.7E-03 0.010 None 1.000 1 0 1997 1997
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT
Q7Z624 calmodulin-lysine N-methyltransferase 185 0.510 0.808 1.4E-15 0.010 None 1.000 1 0 2019 2019
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 89
Gene Symbol: ACTN3
ACTN3
Q08043 actinin alpha 3 (gene/pseudogene) 41 0.663 0.500 0.010 None 1.000 1 1 2014 2014
Entrez Id: 1009
Gene Symbol: CDH11
CDH11
P55287 cadherin 11 203 0.512 0.808 1.00 0.100 None 0 0
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 118 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 175 0.551 0.885 2.8E-15 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
P20908 collagen type V alpha 1 chain 199 0.536 0.769 1.00 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
P05997 collagen type V alpha 2 chain 139 0.568 0.731 1.00 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
Q5JTC6 APC membrane recruitment protein 1 134 0.570 0.654 0.85 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Q8NFG4 folliculin 160 0.537 0.885 0.79 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0