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: 3251
Gene Symbol: HPRT1
HPRT1
hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 1.000 definitive 0.985 133 28 1971 2020
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.030 None 1.000 3 0 1980 2017
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.030 None 0.333 3 0 2014 2017
Entrez Id: 1081
Gene Symbol: CGA
CGA
glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
solute carrier family 2 member 9 0.619 0.731 6.9E-10
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 56952
Gene Symbol: PRTFDC1
PRTFDC1
phosphoribosyl transferase domain containing 1 0.805 0.385 2.4E-13
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6035
Gene Symbol: RNASE1
RNASE1
ribonuclease A family member 1, pancreatic 0.604 0.692 2.6E-02
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6693
Gene Symbol: SPN
SPN
sialophorin 0.563 0.692 1.4E-02
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7498
Gene Symbol: XDH
XDH
xanthine dehydrogenase 0.529 0.846 2.6E-22
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.559 0.808 7.4E-07
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4860
Gene Symbol: PNP
PNP
purine nucleoside phosphorylase 0.527 0.885 7.0E-06
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 471
Gene Symbol: ATIC
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
microfibril associated protein 1 0.431 0.846 0.80
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
phosphodiesterase 10A 0.619 0.615 1.00
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 11182
Gene Symbol: SLC2A6
SLC2A6
solute carrier family 2 member 6 0.674 0.538 6.7E-06
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
solute carrier family 22 member 12 0.647 0.538 1.7E-13
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 135
Gene Symbol: ADORA2A
ADORA2A
adenosine A2a receptor 0.526 0.769 0.60
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1816
Gene Symbol: DRD5
DRD5
dopamine receptor D5 0.603 0.423 1.3E-16
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2153
Gene Symbol: F5
F5
coagulation factor V 0.441 0.846 5.9E-15
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 0.010 None 1.000 1 0 2012 2012