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: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 25 0.499 0.808 0.98 0.100 None 1.000 4 1 2011 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 44 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
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: 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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 46 0.538 0.769 1.1E-14 0.100 None 0 1
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 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 26 0.647 0.462 1.00 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 0 2
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		Q15643 thyroid hormone receptor interactor 11 40 0.595 0.654 1.7E-12 0.100 None 0 2
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		P35716 SRY-box transcription factor 11 Transcription factor 20 0.494 0.808 0.86 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 76 0.460 0.808 1.00 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: 11253
Gene Symbol: MAN1B1
MAN1B1 		Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 14 0.606 0.577 1.2E-08 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		P58335 ANTXR cell adhesion molecule 2 Receptor 30 0.568 0.808 8.7E-02 0.100 None 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 54 0.430 0.808 1.00 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.100 None 0 1
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 24 0.650 0.423 6.3E-04 0.100 None 0 2
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		Q68CP9 AT-rich interaction domain 2 19 0.543 0.808 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: 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