Source: CLINVAR ×
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: 1280
Gene Symbol: COL2A1
COL2A1 		P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.420 None 1.000 0 1 2007 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.130 None 0.667 0 4 2011 2018
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 12 0.595 0.500 1.2E-05 0.120 None 1.000 0 1 2007 2017
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		P25391 laminin subunit alpha 1 27 0.582 0.808 3.2E-32 0.110 None 1.000 0 1 2016 2016
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 29 0.473 0.808 5.0E-32 0.110 None 1.000 0 2 2018 2018
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		P12107 collagen type XI alpha 1 chain 20 0.495 0.846 1.00 0.110 None 1.000 0 1 2018 2018
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		Q9Y2D4 exocyst complex component 6B Transporter 19 0.682 0.577 0.12 0.100 None 1.000 2 1 2013 2014
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		O00294 TUB like protein 1 19 0.623 0.462 5.7E-04 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		Q13586 stromal interaction molecule 1 27 0.501 0.808 0.78 0.100 None 0 1
Entrez Id: 65117
Gene Symbol: RSRC2
RSRC2 		Q7L4I2 arginine and serine rich coiled-coil 2 6 0.769 0.308 1.00 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		Q06609 RAD51 recombinase 26 0.447 0.846 2.7E-02 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 78 0.470 0.885 2.6E-96 0.100 None 0 2
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 41 0.579 0.692 1.6E-94 0.100 None 0 1
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 36 0.513 0.731 9.8E-06 0.100 None 0 2
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		Q7Z2Z2 elongation factor like GTPase 1 Enzyme 19 0.638 0.577 5.1E-08 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 76 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		Q6Q0C0 TNF receptor associated factor 7 33 0.623 0.423 2.2E-02 0.100 None 0 1
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 39 0.551 0.769 8.1E-04 0.100 None 0 1