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: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.010 None 1.000 1 0 2011 2011
Entrez Id: 9814
Gene Symbol: SFI1
SFI1 		A8K8P3 SFI1 centrin binding protein 12 0.792 0.423 5.9E-44 0.010 None 1.000 1 0 2019 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2 		Q9UNQ0 ATP binding cassette subfamily G member 2 (Junior blood group) Transporter 420 0.419 0.885 2.1E-32 0.050 None 1.000 5 0 1999 2011
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3 		P55017 solute carrier family 12 member 3 Transporter 252 0.493 0.808 3.0E-32 0.010 None 1.000 1 0 1998 1998
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		Q8NEM0 microcephalin 1 Nucleic acid binding 141 0.540 0.846 7.8E-30 0.030 None 0.667 3 0 2006 2016
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		P56730 serine protease 12 Enzyme 50 0.682 0.308 8.4E-29 0.020 None 1.000 2 0 2002 2006
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.020 None 1.000 2 0 2008 2012
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.010 None 1.000 1 0 2006 2006
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		Q5T2S8 armadillo repeat containing 4 60 0.641 0.615 1.9E-25 0.010 None 1.000 1 0 2012 2012
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		Q96SN8 CDK5 regulatory subunit associated protein 2 42 0.682 0.577 4.6E-23 0.010 None 1.000 1 0 2015 2015
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.020 None 1.000 2 0 2007 2009
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.030 None 1.000 3 1 1982 2019
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.010 None 1.000 1 0 2009 2009
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109 		Q2LD37 KIAA1109 86 0.603 0.654 3.3E-21 0.010 None 1.000 1 0 2000 2000
Entrez Id: 10531
Gene Symbol: PITRM1
PITRM1 		Q5JRX3 pitrilysin metallopeptidase 1 Enzyme 11 0.821 0.308 5.9E-21 0.010 None 1.000 1 1 2016 2016
Entrez Id: 9980
Gene Symbol: DOP1B
DOP1B 		Q9Y3R5 DOP1 leucine zipper like protein B 6 0.861 0.192 7.5E-21 0.040 None 1.000 4 0 2003 2009
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.010 None 1.000 1 0 1995 1995
Entrez Id: 9651
Gene Symbol: PLCH2
PLCH2 		O75038 phospholipase C eta 2 Enzyme 6 0.861 0.231 1.8E-18 0.010 None 1.000 1 0 2011 2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.010 None 1.000 1 0 2001 2001
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 2011 2011
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.060 None 1.000 6 0 2006 2016