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: 2068
Gene Symbol: ERCC2
ERCC2
P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 447 0.424 0.846 1.00 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 1
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
P63000 Rac family small GTPase 1 Enzyme modulator 415 0.429 0.962 0.76 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 0 1
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
P10809 heat shock protein family D (Hsp60) member 1 398 0.432 0.808 0.99 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 448 0.434 0.846 1.00 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
Q9UM47 notch receptor 3 418 0.435 0.808 0.41 0.100 None 0 0
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 0 0
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.100 None 0 0
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
P07333 colony stimulating factor 1 receptor Kinase 356 0.448 0.808 0.13 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.100 None 0 2
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 347 0.450 0.885 1.00 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.100 None 0 0
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.100 None 1.000 2 2 2007 2013
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 1
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.100 None 0 0