Entrez Id: |
170474 |
Gene Symbol: |
HFM |
HFM
|
|
Hemifacial microsomia
|
|
22
|
0.722 |
0.385 |
|
0.030 |
None
|
1.000 |
3
|
0
|
2001 |
2019 |
Entrez Id: |
791121 |
Gene Symbol: |
SHFL1 |
SHFL1
|
|
Split-hand/foot malformation with long bone deficiency 1
|
|
3
|
1.000 |
0.038 |
|
0.020 |
None
|
1.000 |
2
|
0
|
2013 |
2014 |
Entrez Id: |
100049542 |
Gene Symbol: |
SHFM3 |
SHFM3
|
|
Split-hand/foot malformation 3
|
|
13
|
0.780 |
0.115 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2006 |
2006 |
Entrez Id: |
100151683 |
Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
199
|
0.556 |
0.808 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2011 |
2011 |
TMX2-CTNND1
|
|
TMX2-CTNND1 readthrough (NMD candidate)
|
|
138
|
0.538 |
0.769 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
NPHP3-ACAD11
|
|
NPHP3-ACAD11 readthrough (NMD candidate)
|
|
82
|
0.663 |
0.577 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2013 |
2013 |
Entrez Id: |
115482684 |
Gene Symbol: |
H3P9 |
H3P9
|
|
H3 histone pseudogene 9
|
|
177
|
0.505 |
0.731 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
Entrez Id: |
115482706 |
Gene Symbol: |
H3P47 |
H3P47
|
|
H3 histone pseudogene 47
|
|
65
|
0.603 |
0.538 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2011 |
2011 |
Entrez Id: |
115482713 |
Gene Symbol: |
H3P10 |
H3P10
|
|
H3 histone pseudogene 10
|
|
769
|
0.350 |
0.846 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
Entrez Id: |
170 |
Gene Symbol: |
AFA |
AFA
|
|
ankyloblepharon filiforme adnatum
|
|
12
|
0.792 |
0.462 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2010 |
2010 |
Entrez Id: |
3342 |
Gene Symbol: |
HTC2 |
HTC2
|
|
hypertrichosis 2 (generalized, congenital)
|
|
511
|
0.392 |
0.808 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2016 |
2016 |
ERVMER61-1
|
|
endogenous retrovirus group MER61 member 1
|
|
6
|
0.890 |
0.115 |
|
0.010 |
None
|
< 0.001 |
1
|
0
|
2013 |
2013 |
Entrez Id: |
470 |
Gene Symbol: |
ATHS |
ATHS
|
|
atherosclerosis susceptibility (lipoprotein associated)
|
|
112
|
0.551 |
0.769 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
Entrez Id: |
4964 |
Gene Symbol: |
OFC2 |
OFC2
|
|
orofacial cleft 2
|
|
4
|
0.931 |
0.115 |
|
0.010 |
None
|
1.000 |
1
|
0
|
1998 |
1998 |
Entrez Id: |
55384 |
Gene Symbol: |
MEG3 |
MEG3
|
|
maternally expressed 3
|
|
239
|
0.471 |
0.846 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2002 |
2002 |
Entrez Id: |
791229 |
Gene Symbol: |
MACOM |
MACOM
|
|
macrophthalmia, colobomatous, with microcornea
|
|
3
|
1.000 |
0.077 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2007 |
2007 |
Entrez Id: |
23347 |
Gene Symbol: |
SMCHD1 |
SMCHD1
|
A6NHR9
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
80
|
0.631 |
0.615 |
1.00 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
Entrez Id: |
402569 |
Gene Symbol: |
KPNA7 |
KPNA7
|
A9QM74
|
karyopherin subunit alpha 7
|
|
13
|
0.805 |
0.308 |
3.4E-15 |
0.010 |
None
|
1.000 |
1
|
0
|
2014 |
2014 |
Entrez Id: |
5621 |
Gene Symbol: |
PRNP |
PRNP
|
F7VJQ1 P04156
|
prion protein
|
|
426
|
0.445 |
0.923 |
6.3E-04 |
0.010 |
None
|
1.000 |
1
|
0
|
2013 |
2013 |
Entrez Id: |
3796 |
Gene Symbol: |
KIF2A |
KIF2A
|
O00139
|
kinesin family member 2A
|
Cellular structure
|
81
|
0.590 |
0.731 |
1.00 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
Entrez Id: |
658 |
Gene Symbol: |
BMPR1B |
BMPR1B
|
O00238
|
bone morphogenetic protein receptor type 1B
|
Kinase
|
145
|
0.573 |
0.615 |
1.00 |
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
Entrez Id: |
5293 |
Gene Symbol: |
PIK3CD |
PIK3CD
|
O00329
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
|
Kinase
|
1119
|
0.319 |
0.885 |
1.00 |
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
Entrez Id: |
2009 |
Gene Symbol: |
EML1 |
EML1
|
O00423
|
EMAP like 1
|
|
31
|
0.705 |
0.462 |
1.00 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
Entrez Id: |
889 |
Gene Symbol: |
KRIT1 |
KRIT1
|
O00522
|
KRIT1 ankyrin repeat containing
|
|
201
|
0.500 |
0.808 |
6.9E-04 |
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
Entrez Id: |
7476 |
Gene Symbol: |
WNT7A |
WNT7A
|
O00755
|
Wnt family member 7A
|
Signaling
|
182
|
0.531 |
0.692 |
3.6E-02 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |