Source: ALL
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: 3949
Gene Symbol: LDLR
LDLR 		P01130 low density lipoprotein receptor 336 0.449 0.885 9.8E-24 0.100 None 1.000 2 1 1992 1992
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		O60706 ATP binding cassette subfamily C member 9 Transporter 175 0.552 0.692 9.4E-09 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84984
Gene Symbol: CEP19
CEP19 		Q96LK0 centrosomal protein 19 21 0.729 0.346 1.6E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 54965
Gene Symbol: PIGX
PIGX 		Q8TBF5 phosphatidylinositol glycan anchor biosynthesis class X 16 0.780 0.308 2.4E-05 0.100 None 1.000 1 1 2018 2018
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 0.100 None 1.000 1 1 2007 2007
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 3
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 371 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 7275
Gene Symbol: TUB
TUB 		P50607 TUB bipartite transcription factor 55 0.659 0.385 3.1E-03 0.100 None 0 1
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 2
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 2
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: 55252
Gene Symbol: ASXL2
ASXL2 		Q76L83 ASXL transcriptional regulator 2 89 0.617 0.692 1.00 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: 26053
Gene Symbol: AUTS2
AUTS2 		Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 473
Gene Symbol: RERE
RERE 		Q9P2R6 arginine-glutamic acid dipeptide repeats 215 0.526 0.846 1.00 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3 		O43617 trafficking protein particle complex 3 9 0.792 0.385 0.25 0.100 None 0 1
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 110 0.587 0.692 2.5E-58 0.100 None 0 2