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: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 1
Entrez Id: 22884
Gene Symbol: WDR37
WDR37 		Q9Y2I8 WD repeat domain 37 26 0.751 0.231 0.57 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 1
Entrez Id: 101927279
Gene Symbol: EP300-AS1
EP300-AS1 		EP300 antisense RNA 1 8 0.839 0.231 0.100 None 0 1
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 5
Entrez Id: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.010 None 1.000 1 0 1992 1992
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.010 None 1.000 1 0 1993 1993
Entrez Id: 7039
Gene Symbol: TGFA
TGFA 		P01135 transforming growth factor alpha Signaling 376 0.432 0.885 0.72 0.010 None 1.000 1 0 1995 1995
Entrez Id: 7068
Gene Symbol: THRB
THRB 		P10828 thyroid hormone receptor beta Nuclear receptor 142 0.554 0.769 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 170474
Gene Symbol: HFM
HFM 		Hemifacial microsomia 22 0.722 0.385 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6905
Gene Symbol: TBCE
TBCE 		Q15813 tubulin folding cofactor E Chaperone 146 0.575 0.692 1.7E-08 0.020 None 1.000 2 0 2002 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.020 None 1.000 2 1 2003 2008
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2004 2005
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.020 None 1.000 2 0 2005 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 824 0.384 0.885 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		O15409 forkhead box P2 165 0.545 0.808 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 3643
Gene Symbol: INSR
INSR 		P06213 insulin receptor Kinase 452 0.432 0.846 3.6E-05 0.010 None 1.000 1 0 2008 2008
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A 		Q7RTS3 pancreas associated transcription factor 1a 83 0.601 0.692 0.17 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.010 None 1.000 1 0 2009 2009
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		P37173 transforming growth factor beta receptor 2 Kinase 502 0.413 0.846 0.13 0.010 None 1.000 1 0 2010 2010
Entrez Id: 84107
Gene Symbol: ZIC4
ZIC4 		Q8N9L1 Zic family member 4 Transcription factor 27 0.705 0.423 4.9E-04 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		Q15915 Zic family member 1 Transcription factor 124 0.545 0.731 0.93 0.010 None 1.000 1 0 2011 2011
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.010 None 1.000 1 0 2011 2011