Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.090 None 1.000 9 0 1987 2019
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.070 None 1.000 7 0 1999 2017
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A 		RAB27A, member RAS oncogene family 0.585 0.692 3.0E-07
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.040 None 1.000 4 0 2003 2011
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.030 None 1.000 3 2 2011 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.030 None 1.000 3 1 2000 2017
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 1.000 2 0 2001 2009
Entrez Id: 4644
Gene Symbol: MYO5A
MYO5A 		myosin VA 0.628 0.615 0.94
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 1.000 2 0 2003 2004
Entrez Id: 79083
Gene Symbol: MLPH
MLPH 		melanophilin 0.743 0.423 4.4E-10
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 1.000 2 0 2003 2004
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 0.500 2 2 1987 2017
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2 		solute carrier family 45 member 2 0.626 0.538 1.7E-06
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.020 None 1.000 2 0 2011 2012
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2 		RAN binding protein 2 0.578 0.615 1.00
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		plexin A2 0.447 0.808 1.1E-06
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6120
Gene Symbol: RPE
RPE 		ribulose-5-phosphate-3-epimerase 0.575 0.538 2.5E-04
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 6373
Gene Symbol: CXCL11
CXCL11 		C-X-C motif chemokine ligand 11 0.519 0.808 0.31
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 8740
Gene Symbol: TNFSF14
TNFSF14 		TNF superfamily member 14 0.529 0.769 5.2E-02
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 84343
Gene Symbol: HPS3
HPS3 		HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 0.769 0.308 2.9E-21
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7389
Gene Symbol: UROD
UROD 		uroporphyrinogen decarboxylase 0.521 0.769 1.3E-08
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1 		tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 7218
Gene Symbol: TRP-AGG2-6
TRP-AGG2-6 		tRNA-Pro (anticodon AGG) 2-6 0.666 0.462
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.010 None 1.000 1 0 1998 1998