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: 101926885
Gene Symbol: OCA5
OCA5 		oculocutaneous albinism 5 (autosomal recessive) 2 0.931 0.154 0.010 None 1.000 1 0 2017 2017
Entrez Id: 140805
Gene Symbol: HT
HT 		Hashimoto thyroiditis 170 0.505 0.731 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.010 None 1.000 1 0 2012 2012
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 3 2015 2015
Entrez Id: 202
Gene Symbol: CRYBG1
CRYBG1 		Q9Y4K1 crystallin beta-gamma domain containing 1 22 0.743 0.462 3.5E-33 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.900 strong 0.982 112 15 1981 2019
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.010 None 1.000 1 2 2018 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 747 0.367 0.923 9.2E-29 0.010 None 1.000 1 1 2017 2017
Entrez Id: 2267
Gene Symbol: FGL1
FGL1 		Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.030 None 1.000 3 0 2006 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1 		P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.400 strong 1.000 15 0 1996 2018
Entrez Id: 6490
Gene Symbol: PMEL
PMEL 		P40967 premelanosome protein Signaling 138 0.531 0.769 3.1E-18 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.600 strong 0.974 38 10 1994 2019
Entrez Id: 123041
Gene Symbol: SLC24A4
SLC24A4 		Q8NFF2 solute carrier family 24 member 4 Transporter 16 0.751 0.346 2.2E-11 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4157
Gene Symbol: MC1R
MC1R 		Q01726 melanocortin 1 receptor G-protein coupled receptor 183 0.524 0.808 8.1E-11 0.040 None 1.000 4 1 2003 2017
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		Q71RS6 solute carrier family 24 member 5 Transporter 25 0.760 0.308 5.2E-10 0.370 strong 1.000 7 1 2013 2019
Entrez Id: 4255
Gene Symbol: MGMT
MGMT 		P16455 O-6-methylguanine-DNA methyltransferase 444 0.412 0.885 1.2E-07 0.010 None 1.000 1 1 2017 2017
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 64 0.636 0.692 1.3E-07 0.400 strong 0.909 11 4 1998 2019
Entrez Id: 283685
Gene Symbol: GOLGA6L2
GOLGA6L2 		Q8N9W4 golgin A6 family like 2 Cellular structure 3 0.890 0.231 1.1E-06 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		O75051 plexin A2 307 0.447 0.808 1.1E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2 		Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.600 strong 0.923 26 5 2001 2019
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		Q9BUM1 glucose-6-phosphatase catalytic subunit 3 79 0.606 0.731 4.7E-06 0.010 None 1.000 1 0 2011 2011
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1 		Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		Q9NQG7 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 26 0.743 0.385 1.4E-04 0.040 None 1.000 4 0 2008 2019
Entrez Id: 79803
Gene Symbol: HPS6
HPS6 		Q86YV9 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 21 0.769 0.308 2.8E-04 0.040 None 1.000 4 0 2016 2018