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: 2263
Gene Symbol: FGFR2
FGFR2 		P21802 fibroblast growth factor receptor 2 Kinase 82 0.380 0.808 1.00 0.400 None 1.000 26 2 1985 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.400 None 1.000 22 3 1991 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.400 None 1.000 14 1 2001 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.100 None 1.000 46 1 1988 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		Q9Y6K1 DNA methyltransferase 3 alpha 14 0.445 0.846 7.4E-39 0.100 None 1.000 36 1 1989 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 47 0.440 0.885 0.90 0.100 None 1.000 34 2 1967 2017
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 70 0.539 0.846 1.00 0.100 None 1.000 30 1 1996 2018
Entrez Id: 998
Gene Symbol: CDC42
CDC42 		P60953 cell division cycle 42 Enzyme modulator 13 0.458 0.846 0.79 0.100 None 1.000 30 1 1993 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.100 None 1.000 29 2 1986 2016
Entrez Id: 6651
Gene Symbol: SON
SON 		P18583 SON DNA binding protein 7 0.565 0.769 1.00 0.100 None 1.000 28 2 1988 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 44 0.544 0.615 1.00 0.100 None 1.000 27 1 1988 2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		Q99592 zinc finger and BTB domain containing 18 Transcription factor 10 0.666 0.500 1.00 0.100 None 1.000 26 1 1997 2017
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		Q9C0A6 SET domain containing 5 5 0.560 0.731 1.00 0.100 None 1.000 26 1 1995 2018
Entrez Id: 8452
Gene Symbol: CUL3
CUL3 		Q13618 cullin 3 7 0.592 0.654 1.00 0.100 None 1.000 25 1 1986 2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		O14686 lysine methyltransferase 2D 26 0.465 0.808 1.00 0.100 None 1.000 25 8 1988 2017
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 30 0.457 0.808 2.2E-16 0.100 None 1.000 24 2 1976 2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC 		Q00610 clathrin heavy chain Transporter 5 0.558 0.769 1.00 0.100 None 1.000 23 1 1976 2017
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2 		Q9Y3E5 peptidyl-tRNA hydrolase 2 8 0.641 0.577 6.4E-04 0.100 None 1.000 23 1 1976 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		Q03164 lysine methyltransferase 2A 61 0.410 0.885 1.00 0.100 None 1.000 22 5 1989 2017
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		Q9NR61 delta like canonical Notch ligand 4 3 0.494 0.769 1.00 0.100 None 1.000 22 1 1996 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.100 None 1.000 21 10 1999 2016
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 1.000 21 3 2002 2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 21 5 1984 2017
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		Q9UPW6 SATB homeobox 2 Transcription factor 24 0.503 0.769 1.00 0.100 None 1.000 21 2 1989 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 29 0.452 0.808 1.00 0.100 None 1.000 21 2 1992 2017