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: 84282
Gene Symbol: RNF135
RNF135
Q8IUD6 ring finger protein 135 41 0.686 0.500 2.2E-09 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
Q9BQB4 sclerostin 270 0.474 0.808 0.87 0.100 None 0 0
Entrez Id: 2312
Gene Symbol: FLG
FLG
P20930 filaggrin Cellular structure 173 0.525 0.846 2.9E-04 0.100 None 1.000 1 1 2006 2006
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 43 0.700 0.538 0.100 None 1.000 1 1 2006 2006
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: 4647
Gene Symbol: MYO7A
MYO7A
Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.100 None 1.000 13 2 1995 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.100 None 1.000 11 1 1986 2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 1.000 17 4 1999 2013
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.100 None 1.000 9 1 1996 2013
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 8 1 1999 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Q14896 myosin binding protein C3 100 0.593 0.385 8.0E-11 0.100 None 1.000 7 1 1995 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Q8TE73 dynein axonemal heavy chain 5 Enzyme 93 0.590 0.692 4.9E-64 0.100 None 1.000 6 1 2002 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.100 None 1.000 6 1 2005 2013
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 653 0.376 0.885 1.00 0.100 None 1.000 5 1 1998 2013
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 1.000 3 1 2007 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.100 None 1.000 19 1 1997 2014
Entrez Id: 4810
Gene Symbol: NHS
NHS
Q6T4R5 NHS actin remodeling regulator 295 0.466 0.846 1.00 0.100 None 1.000 7 1 2002 2014
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC
Q504Y2 protein kinase domain containing, cytoplasmic Kinase 10 0.821 0.154 2.1E-05 0.100 None 1.000 5 1 2009 2014
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
Q9NZ94 neuroligin 3 63 0.653 0.462 0.98 0.100 None 1.000 4 1 2003 2014
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
Q9UM00 transmembrane and coiled-coil domains 1 122 0.588 0.654 9.4E-10 0.100 None 1.000 4 2 2010 2014
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 1.000 17 2 1993 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.100 None 1.000 15 2 2000 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 1.000 14 3 2001 2015
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 134 0.559 0.692 0.12 0.100 None 1.000 12 1 1997 2015
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
P30518 arginine vasopressin receptor 2 G-protein coupled receptor 134 0.568 0.769 0.56 0.100 None 1.000 9 1 1999 2015