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: 79803
Gene Symbol: HPS6
HPS6 		Q86YV9 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 21 0.769 0.308 2.8E-04 0.100 None 0 0
Entrez Id: 59330
Gene Symbol: GER
GER 		Gastroesophageal reflux 40 0.678 0.538 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		O60303 KIAA0556 60 0.644 0.538 1.2E-29 0.100 None 0 0
Entrez Id: 2799
Gene Symbol: GNS
GNS 		P15586 glucosamine (N-acetyl)-6-sulfatase Enzyme 51 0.705 0.538 5.6E-04 0.100 None 0 0
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 108 0.628 0.577 6.3E-08 0.100 None 0 0
Entrez Id: 5993
Gene Symbol: RFX5
RFX5 		P48382 regulatory factor X5 Enzyme 64 0.650 0.577 2.0E-11 0.100 None 0 0
Entrez Id: 5994
Gene Symbol: RFXAP
RFXAP 		O00287 regulatory factor X associated protein 56 0.663 0.577 2.3E-02 0.100 None 0 0
Entrez Id: 8625
Gene Symbol: RFXANK
RFXANK 		O14593 regulatory factor X associated ankyrin containing protein Transcription factor 67 0.644 0.577 8.7E-06 0.100 None 0 0
Entrez Id: 25839
Gene Symbol: COG4
COG4 		Q9H9E3 component of oligomeric golgi complex 4 111 0.631 0.615 4.0E-09 0.100 None 0 0
Entrez Id: 574045
Gene Symbol: HNP1
HNP1 		Hypertensive nephropathy 51 0.638 0.654 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6614
Gene Symbol: SIGLEC1
SIGLEC1 		Q9BZZ2 sialic acid binding Ig like lectin 1 75 0.597 0.654 5.3E-46 0.010 None 1.000 1 0 2014 2014
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		KCNMA1 antisense RNA 1 40 0.705 0.654 0.100 None 0 1
Entrez Id: 728358
Gene Symbol: DEFA1B
DEFA1B 		P59665 defensin alpha 1B 39 0.674 0.692 0.010 None 1.000 1 0 2018 2018
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		P15848 arylsulfatase B 96 0.595 0.692 7.0E-09 0.100 None 0 0
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		P51688 N-sulfoglucosamine sulfohydrolase Enzyme 80 0.638 0.692 1.0E-04 0.100 None 0 0
Entrez Id: 1483
Gene Symbol: CTAA1
CTAA1 		cataract, anterior polar 1 106 0.568 0.731 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1667
Gene Symbol: DEFA1
DEFA1 		P59665 defensin alpha 1 57 0.636 0.731 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP 		Q9UIQ6 leucyl and cystinyl aminopeptidase Enzyme 174 0.514 0.731 1.00 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3718
Gene Symbol: JAK3
JAK3 		P52333 Janus kinase 3 Kinase 194 0.505 0.731 5.9E-06 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 1
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1 		Q9BX66 sorbin and SH3 domain containing 1 124 0.554 0.769 1.5E-12 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5269
Gene Symbol: SERPINB6
SERPINB6 		P35237 serpin family B member 6 Enzyme modulator 128 0.547 0.769 1.1E-04 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3575
Gene Symbol: IL7R
IL7R 		P16871 interleukin 7 receptor Receptor 231 0.487 0.769 3.8E-07 0.100 None 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 0.100 None 0 0