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: 25792
Gene Symbol: CIZ1
CIZ1
Q9ULV3 CDKN1A interacting zinc finger protein 1 80 0.617 0.500 6.3E-02 0.100 None 1.000 38 3 1983 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 1.000 36 2 1989 2018
Entrez Id: 6651
Gene Symbol: SON
SON
P18583 SON DNA binding protein 154 0.565 0.769 1.00 0.100 None 1.000 28 4 1988 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Q9C0A6 SET domain containing 5 161 0.560 0.731 1.00 0.100 None 1.000 26 1 1995 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 1.000 25 2 1988 2017
Entrez Id: 8452
Gene Symbol: CUL3
CUL3
Q13618 cullin 3 83 0.592 0.654 1.00 0.100 None 1.000 25 1 1986 2016
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
Q8IZD9 dedicator of cytokinesis 3 85 0.619 0.692 1.00 0.100 None 1.000 23 3 2000 2018
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
Q9Y3E5 peptidyl-tRNA hydrolase 2 70 0.641 0.577 6.4E-04 0.100 None 1.000 23 1 1976 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
O95622 adenylate cyclase 5 103 0.617 0.577 1.00 0.100 None 1.000 22 2 1992 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 1.000 22 6 1991 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 1.000 22 7 1989 2017
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.100 None 1.000 21 1 1993 2016
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 1.000 21 1 1992 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 1.000 21 11 1984 2017
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
Q14669 thyroid hormone receptor interactor 12 81 0.678 0.462 1.00 0.100 None 1.000 21 1 1998 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 1.000 20 2 1957 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 1.000 20 3 1999 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 1.000 19 3 1963 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
P46531 notch receptor 1 693 0.369 0.885 1.00 0.100 None 1.000 19 1 1999 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.100 None 1.000 18 3 1984 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 1.000 18 2 1963 2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.100 None 1.000 17 5 2004 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 1.000 17 1 1993 2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 1.000 17 2 1999 2013
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 1.000 16 8 1989 2017