Source: CLINVAR ×
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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 24 0.556 0.808 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 69 0.663 0.577 0.100 None 0 3
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 9 0.507 0.885 9.0E-22 0.100 None 0 2
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		O60610 diaphanous related formin 1 5 0.623 0.654 0.92 0.100 None 0 1
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		O75496 geminin DNA replication inhibitor 39 0.554 0.808 0.11 0.100 None 1.000 1 1 2015 2015
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 22 0.471 0.846 0.99 0.100 None 0 1
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.100 None 1.000 3 2 2006 2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.100 None 1.000 2 1 2007 2007
Entrez Id: 2629
Gene Symbol: GBA
GBA 		P04062 glucosylceramidase beta 33 0.500 0.808 1.4E-06 0.100 None 0 1
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		P04066 alpha-L-fucosidase 1 11 0.623 0.577 2.7E-08 0.100 None 0 1
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 20 0.530 0.692 6.6E-03 0.100 None 0 1
Entrez Id: 203068
Gene Symbol: TUBB
TUBB 		P07437 tubulin beta class I Cellular structure 8 0.603 0.692 0.98 0.100 None 0 1
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 18 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		P12110 collagen type VI alpha 2 chain Receptor 23 0.599 0.692 6.5E-08 0.100 None 0 1
Entrez Id: 6651
Gene Symbol: SON
SON 		P18583 SON DNA binding protein 7 0.565 0.769 1.00 0.100 None 1.000 1 5 2016 2016
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		P30049 ATP synthase F1 subunit delta Transporter 43 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 12 0.545 0.769 1.00 0.100 None 0 1
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		P38935 immunoglobulin mu DNA binding protein 2 39 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		P40926 malate dehydrogenase 2 Enzyme 7 0.595 0.731 6.7E-03 0.100 None 1.000 1 2 2017 2017
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		P42224 signal transducer and activator of transcription 1 Nucleic acid binding 29 0.399 0.885 1.00 0.100 None 0 1
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		P43155 carnitine O-acetyltransferase Enzyme 9 0.656 0.577 9.5E-12 0.100 None 1.000 1 2 2020 2020
Entrez Id: 2010
Gene Symbol: EMD
EMD 		P50402 emerin 8 0.542 0.731 0.93 0.100 None 0 1
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		P53007 solute carrier family 25 member 1 Transporter 13 0.553 0.731 5.9E-02 0.100 None 0 1