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: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.800 None 0.984 61 92 1982 2019
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.310 None 1.000 1 0 2016 2016
Entrez Id: 2799
Gene Symbol: GNS
GNS 		glucosamine (N-acetyl)-6-sulfatase 0.705 0.538 5.6E-04
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.300 None 1.000 1 0 1988 1988
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.300 None 0 0
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.020 None 1.000 2 0 1983 2018
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 6855
Gene Symbol: SYP
SYP 		synaptophysin 0.481 0.808 0.92
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6332
Gene Symbol: SCN7A
SCN7A 		sodium voltage-gated channel alpha subunit 7 0.585 0.692 2.2E-17
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 6232
Gene Symbol: RPS27
RPS27 		ribosomal protein S27 0.578 0.769 0.76
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 51172
Gene Symbol: NAGPA
NAGPA 		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 0.792 0.269 3.0E-12
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 219972
Gene Symbol: MPEG1
MPEG1 		macrophage expressed 1 0.575 0.731 3.6E-16
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7272
Gene Symbol: TTK
TTK 		TTK protein kinase 0.555 0.731 1.3E-03
CUI: C0086648
Disease: MPS III B
MPS III B 		disease 0.010 None 1.000 1 0 2018 2018