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: 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: 25880
Gene Symbol: TMEM186
TMEM186 		Q96B77 transmembrane protein 186 5 1.000 0.077 5.2E-05 0.100 None 1.000 1 1 2010 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		P80404 4-aminobutyrate aminotransferase Enzyme 5 0.628 0.538 6.3E-03 0.100 None 1.000 1 4 2010 2010
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Q86X10 Ral GTPase activating protein non-catalytic subunit beta 13 0.659 0.577 1.00 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 36 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		Q16650 T-box brain transcription factor 1 Transcription factor 22 0.666 0.385 1.00 0.100 None 0 6
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 26 0.633 0.654 1.9E-05 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: 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: 5915
Gene Symbol: RARB
RARB 		P10826 retinoic acid receptor beta Nuclear receptor 13 0.478 0.846 1.00 0.100 None 0 2
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 43 0.434 0.846 1.00 0.100 None 0 1
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: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 29 0.532 0.692 1.00 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 47 0.455 0.846 1.00 0.100 None 0 2
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		Q96FM1 post-GPI attachment to proteins phospholipase 3 18 0.628 0.731 1.9E-03 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 20 0.579 0.731 1.5E-15 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 69 0.547 0.731 6.3E-06 0.100 None 0 2
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: 158
Gene Symbol: ADSL
ADSL 		P30566 adenylosuccinate lyase Enzyme 5 0.631 0.654 8.9E-12 0.100 None 0 2
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 31 0.599 0.577 1.00 0.100 None 0 1
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		Q10713 peptidase, mitochondrial processing subunit alpha Enzyme 16 0.633 0.577 3.4E-11 0.100 None 0 2
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 48 0.510 0.692 1.00 0.100 None 0 1