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: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 1.000 10 4 1996 2014
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 225 0.510 0.846 1.00 0.140 None 1.000 4 2 2013 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.120 None 1.000 2 2 2014 2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
P17302 gap junction protein alpha 1 Cell-cell junction 662 0.393 0.885 0.16 0.020 None 1.000 2 2 2007 2013
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 121 0.595 0.769 1.00 0.100 None 0 2
Entrez Id: 9241
Gene Symbol: NOG
NOG
Q13253 noggin 206 0.518 0.731 0.89 0.100 None 1.000 11 1 2002 2018
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
P35453 homeobox D13 259 0.483 0.808 8.6E-03 0.500 None 1.000 10 1 1998 2017
Entrez Id: 2192
Gene Symbol: FBLN1
FBLN1
P23142 fibulin 1 83 0.587 0.654 0.92 0.010 None 1.000 1 1 2014 2014
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 314 0.454 0.808 0.89 0.100 None 0 1
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 1
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
O00294 TUB like protein 1 80 0.623 0.462 5.7E-04 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 1
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
Q96J42 thioredoxin domain containing 15 22 0.736 0.615 9.6E-03 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Q6UX98 zinc finger DHHC-type containing 24 30 0.722 0.462 4.2E-04 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Q86YC2 partner and localizer of BRCA2 260 0.485 0.769 3.0E-19 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 115 0.606 0.577 1.2E-08 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
O75096 LDL receptor related protein 4 151 0.568 0.692 1.4E-06 0.460 None 0.857 7 0 2005 2020
Entrez Id: 50964
Gene Symbol: SOST
SOST
Q9BQB4 sclerostin 270 0.474 0.808 0.87 0.040 None 1.000 4 0 1976 2018
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
Q7RTU4 basic helix-loop-helix family member a9 65 0.644 0.269 0.30 0.040 None 1.000 4 0 2014 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.040 None 1.000 4 0 2003 2014
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Q86XX4 Fraser extracellular matrix complex subunit 1 122 0.560 0.577 3.1E-45 0.030 None 1.000 3 0 2005 2016
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
ZPA regulatory sequence 21 0.722 0.269 0.030 None 1.000 3 0 2012 2013