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: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.800 None 1.000 48 101 1989 2017
Entrez Id: 3606
Gene Symbol: IL18
IL18
interleukin 18 0.365 0.923 3.1E-02
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 3934
Gene Symbol: LCN2
LCN2
lipocalin 2 0.405 0.885 1.1E-09
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 648
Gene Symbol: BMI1
BMI1
BMI1 proto-oncogene, polycomb ring finger 0.448 0.808 0.94
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6332
Gene Symbol: SCN7A
SCN7A
sodium voltage-gated channel alpha subunit 7 0.585 0.692 2.2E-17
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
mucin 1, cell surface associated 0.384 0.885 1.9E-02
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100133941
Gene Symbol: CD24
CD24
CD24 molecule 0.472 0.769
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None < 0.001 1 0 2012 2012
Entrez Id: 100532731
Gene Symbol: COMMD3-BMI1
COMMD3-BMI1
COMMD3-BMI1 readthrough 0.488 0.769 1.5E-03
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10935
Gene Symbol: PRDX3
PRDX3
peroxiredoxin 3 0.568 0.769 4.2E-03
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1234
Gene Symbol: CCR5
CCR5
C-C motif chemokine receptor 5 (gene/pseudogene) 0.398 0.885 4.3E-10
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 133
Gene Symbol: ADM
ADM
adrenomedullin 0.436 0.808 4.1E-02
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1401
Gene Symbol: CRP
CRP
C-reactive protein 0.299 0.962 3.7E-03
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease 0.010 None 1.000 1 0 2017 2017