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: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		AP4B1 antisense RNA 1 7 0.805 0.231 0.100 None 1.000 3 1 2011 2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 7 0.631 0.654 1.3E-09 0.100 None 1.000 3 1 2011 2012
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 3 2016 2016
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		P50542 peroxisomal biogenesis factor 5 Transporter 11 0.561 0.731 5.6E-05 0.100 None 1.000 1 1 2015 2015
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1 		Q9GZU1 mucolipin 1 Ion channel 11 0.601 0.654 5.8E-04 0.100 None 0 2
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 38 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		Q15475 SIX homeobox 1 Transcription factor 10 0.496 0.692 0.65 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 32 0.474 0.846 8.0E-24 0.100 None 0 2
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		Q9UHF7 transcriptional repressor GATA binding 1 71 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		Q7Z2Z2 elongation factor like GTPase 1 Enzyme 19 0.638 0.577 5.1E-08 0.100 None 0 1
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		P35658 nucleoporin 214 Nucleic acid binding 7 0.638 0.385 5.5E-02 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		Q14669 thyroid hormone receptor interactor 12 46 0.678 0.462 1.00 0.100 None 0 1
Entrez Id: 55163
Gene Symbol: PNPO
PNPO 		Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 5 0.659 0.500 1.1E-08 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 8 0.792 0.231 5.4E-15 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 81 0.534 0.769 1.00 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 41 0.551 0.885 2.8E-15 0.100 None 0 2
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		P12109 collagen type VI alpha 1 chain Receptor 69 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 33 0.521 0.808 1.00 0.100 None 0 1