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: 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: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 25 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 23 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 2
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		Q13586 stromal interaction molecule 1 27 0.501 0.808 0.78 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		Q86W42 THO complex 6 14 0.705 0.577 4.8E-04 0.100 None 0 2
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 62 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3 		Q5FWF4 zinc finger RANBP2-type containing 3 5 0.780 0.577 4.2E-21 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 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: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 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 2
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		Q9Y3A5 SBDS ribosome maturation factor Enzyme 11 0.601 0.692 6.2E-05 0.100 None 0 2
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 11
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		Q92581 solute carrier family 9 member A6 Transporter 21 0.516 0.846 1.00 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Q6ZRS2 Snf2 related CREBBP activator protein 57 0.610 0.731 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 3
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 9
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.100 None 0 2
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		P35556 fibrillin 2 Calcium-binding protein 27 0.505 0.808 1.00 0.100 None 0 1
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1 		Q15042 RAB3 GTPase activating protein catalytic subunit 1 8 0.566 0.692 1.5E-07 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 30 0.617 0.538 1.00 0.100 None 0 1
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