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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.030 None 1.000 3 0 2008 2013
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR 		H19/IGF2 imprinting control region 66 0.631 0.615 0.010 None 1.000 1 0 2007 2007
Entrez Id: 112935892
Gene Symbol: LINC02605
LINC02605 		long intergenic non-protein coding RNA 2605 203 0.490 0.769 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3210
Gene Symbol: HOXB@
HOXB@ 		homeobox B cluster 49 0.631 0.538 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 3
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.010 None 1.000 1 3 2012 2012
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.010 None 1.000 1 0 2018 2018
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 91662
Gene Symbol: NLRP12
NLRP12 		P59046 NLR family pyrin domain containing 12 95 0.569 0.846 3.6E-28 0.010 None 1.000 1 0 2018 2018
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5 		Q9NQ38 serine peptidase inhibitor Kazal type 5 Enzyme modulator 93 0.604 0.654 4.8E-28 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		Q9UMD9 collagen type XVII alpha 1 chain 138 0.545 0.769 2.3E-27 0.100 None 0 1
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 1
Entrez Id: 727
Gene Symbol: C5
C5 		P01031 complement C5 Enzyme modulator 129 0.550 0.731 8.1E-24 0.010 None 1.000 1 0 1977 1977
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.100 None 0 2
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 5 0.890 0.231 3.5E-21 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2 		P19099 cytochrome P450 family 11 subfamily B member 2 142 0.553 0.615 7.1E-19 0.020 None 1.000 2 0 1994 1999
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1 		O75907 diacylglycerol O-acyltransferase 1 Enzyme 64 0.621 0.615 1.4E-17 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57176
Gene Symbol: VARS2
VARS2 		Q5ST30 valyl-tRNA synthetase 2, mitochondrial 37 0.666 0.577 5.8E-17 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1 		Q13621 solute carrier family 12 member 1 Transporter 87 0.631 0.538 6.7E-17 0.010 None 1.000 1 0 2001 2001