Source: ALL
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: 2697
Gene Symbol: GJA1
GJA1 		P17302 gap junction protein alpha 1 Cell-cell junction 662 0.393 0.885 0.16 0.100 None 1.000 12 1 2003 2017
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 1.000 13 2 1996 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		P40692 mutL homolog 1 Nucleic acid binding 526 0.399 0.808 3.4E-05 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT 		P21964 catechol-O-methyltransferase Enzyme 622 0.400 0.923 1.1E-06 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		P10176 cytochrome c oxidase subunit 8A Enzyme 526 0.400 0.846 0.12 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		P48431 SRY-box transcription factor 2 Transcription factor 503 0.405 0.808 0.71 0.100 None 0 0
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		P43246 mutS homolog 2 Nucleic acid binding 490 0.406 0.808 0.90 0.100 None 0 0
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: 846
Gene Symbol: CASR
CASR 		P41180 calcium sensing receptor G-protein coupled receptor 517 0.410 0.846 4.7E-02 0.100 None 0 0
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		P21579 synaptotagmin 1 Transporter 460 0.412 0.846 0.60 0.100 None 1.000 18 2 1994 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		P37173 transforming growth factor beta receptor 2 Kinase 502 0.413 0.846 0.13 0.100 None 1.000 6 1 2005 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.400 None 1.000 20 10 1993 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 1.000 9 1 1994 2017
Entrez Id: 65125
Gene Symbol: WNK1
WNK1 		Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 460 0.416 0.846 1.00 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 1.000 29 2 1986 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 470 0.418 0.885 0.85 0.100 None 1.000 15 1 2006 2016
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		P48436 SRY-box transcription factor 9 466 0.419 0.846 1.00 0.100 None 0 0
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 1.000 18 2 1963 2017
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: 8091
Gene Symbol: HMGA2
HMGA2 		P52926 high mobility group AT-hook 2 Nucleic acid binding 382 0.429 0.808 0.87 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 1.000 20 2 1957 2017