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: 25
Gene Symbol: ABL1
ABL1
P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 30 0.432 0.923 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 63 0.556 0.808 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: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 29 0.452 0.808 1.00 0.410 None 1.000 0 1 2009 2009
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 1
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
Q8IWQ3 BR serine/threonine kinase 2 Kinase 16 0.700 0.500 0.95 0.100 None 1.000 1 1 2019 2019
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: 50846
Gene Symbol: DHH
DHH
O43323 desert hedgehog signaling molecule 8 0.650 0.423 0.22 0.100 None 1.000 1 2 2018 2018
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
Q9H4W6 EBF transcription factor 3 58 0.595 0.731 1.00 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Q92915 fibroblast growth factor 14 Signaling 19 0.619 0.692 0.91 0.100 None 0 1
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Q86XX4 Fraser extracellular matrix complex subunit 1 10 0.560 0.577 3.1E-45 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
Q5SZK8 FRAS1 related extracellular matrix 2 23 0.566 0.577 3.6E-11 0.100 None 0 1
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
P51460 insulin like 3 1 0.604 0.538 1.6E-02 0.900 None 0.857 0 5 1999 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
Q8WYB5 lysine acetyltransferase 6B Enzyme 26 0.525 0.731 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 23 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 745
Gene Symbol: MYRF
MYRF
Q9Y2G1 myelin regulatory factor 21 0.584 0.731 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
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 0 2
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: 79728
Gene Symbol: PALB2
PALB2
Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 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: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 1
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 16 0.401 0.846 1.00 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.120 None 1.000 4 5 2001 2016