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: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 1.000 2 3 2006 2006
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: 25942
Gene Symbol: SIN3A
SIN3A 		Q96ST3 SIN3 transcription regulator family member A Enzyme 11 0.551 0.692 1.00 0.100 None 1.000 1 1 2019 2019
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: 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: 79644
Gene Symbol: SRD5A3
SRD5A3 		Q9H8P0 steroid 5 alpha-reductase 3 41 0.604 0.692 2.5E-04 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: 57498
Gene Symbol: KIDINS220
KIDINS220 		Q9ULH0 kinase D interacting substrate 220 11 0.534 0.769 7.4E-02 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 0.100 None 0 2
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 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: 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 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: 6909
Gene Symbol: TBX2
TBX2 		Q13207 T-box transcription factor 2 Transcription factor 36 0.544 0.769 0.99 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		P55201 bromodomain and PHD finger containing 1 15 0.686 0.385 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 4
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: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		KCNMA1 antisense RNA 1 37 0.705 0.654 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: 112939
Gene Symbol: NACC1
NACC1 		Q96RE7 nucleus accumbens associated 1 34 0.610 0.577 1.00 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: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 52 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 1896
Gene Symbol: EDA
EDA 		Q92838 ectodysplasin A 16 0.553 0.808 0.97 0.100 None 0 1