|
| Entrez Id: |
3342 |
| Gene Symbol: |
HTC2 |
HTC2
|
|
hypertrichosis 2 (generalized, congenital)
|
|
511
|
0.392 |
0.808 |
|
0.100 |
None
|
0.962 |
26
|
0
|
2004 |
2019 |
|
| Entrez Id: |
170474 |
| Gene Symbol: |
HFM |
HFM
|
|
Hemifacial microsomia
|
|
22
|
0.722 |
0.385 |
|
0.040 |
None
|
1.000 |
4
|
0
|
2001 |
2019 |
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
199
|
0.556 |
0.808 |
|
0.030 |
None
|
1.000 |
3
|
0
|
2011 |
2012 |
|
| Entrez Id: |
1714 |
| Gene Symbol: |
DGCR |
DGCR
|
|
DiGeorge syndrome chromosome region
|
|
38
|
0.678 |
0.538 |
|
0.030 |
None
|
1.000 |
3
|
0
|
1995 |
2002 |
|
| Entrez Id: |
100188864 |
| Gene Symbol: |
IH |
IH
|
|
Hemihypertrophy
|
|
15
|
0.751 |
0.385 |
|
0.020 |
None
|
1.000 |
2
|
0
|
1976 |
2014 |
|
| Entrez Id: |
105259599 |
| Gene Symbol: |
H19-ICR |
H19-ICR
|
|
H19/IGF2 imprinting control region
|
|
66
|
0.631 |
0.615 |
|
0.020 |
None
|
1.000 |
2
|
0
|
2008 |
2010 |
|
| Entrez Id: |
105804841 |
| Gene Symbol: |
ZRS |
ZRS
|
|
ZPA regulatory sequence
|
|
21
|
0.722 |
0.269 |
|
0.020 |
None
|
1.000 |
2
|
0
|
2014 |
2016 |
|
| Entrez Id: |
3230 |
| Gene Symbol: |
HOXD@ |
HOXD@
|
|
homeobox D cluster
|
|
52
|
0.631 |
0.538 |
|
0.020 |
None
|
1.000 |
2
|
0
|
2007 |
2011 |
|
| 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: |
100126310 |
| Gene Symbol: |
MIR876 |
MIR876
|
|
microRNA 876
|
|
37
|
0.666 |
0.385 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2015 |
2015 |
|
| Entrez Id: |
100126316 |
| Gene Symbol: |
MIR873 |
MIR873
|
|
microRNA 873
|
|
67
|
0.601 |
0.538 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2015 |
2015 |
|
| Entrez Id: |
100188881 |
| Gene Symbol: |
MFT2 |
MFT2
|
|
Trichoepithelioma, multiple familial, 2
|
|
75
|
0.601 |
0.692 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
|
| Entrez Id: |
100380873 |
| Gene Symbol: |
FECD3 |
FECD3
|
|
Corneal dystrophy, Fuchs endothelial, 3
|
|
11
|
0.769 |
0.385 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2014 |
2014 |
|
LINC01672
|
|
long intergenic non-protein coding RNA 1672
|
|
268
|
0.462 |
0.846 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2013 |
2013 |
|
TMX2-CTNND1
|
|
TMX2-CTNND1 readthrough (NMD candidate)
|
|
138
|
0.538 |
0.769 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
|
| Entrez Id: |
100528024 |
| Gene Symbol: |
DEL11P13 |
DEL11P13
|
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
|
|
24
|
0.716 |
0.538 |
|
0.010 |
None
|
1.000 |
1
|
0
|
1997 |
1997 |
|
NPHP3-ACAD11
|
|
NPHP3-ACAD11 readthrough (NMD candidate)
|
|
82
|
0.663 |
0.577 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2013 |
2013 |
|
KCNQ1OT1
|
|
KCNQ1 opposite strand/antisense transcript 1
|
|
159
|
0.534 |
0.731 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2002 |
2002 |
|
| 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: |
115482693 |
| Gene Symbol: |
H3P8 |
H3P8
|
|
H3 histone pseudogene 8
|
|
116
|
0.544 |
0.808 |
|
0.010 |
None
|
1.000 |
1
|
0
|
1998 |
1998 |
|
| 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: |
266719 |
| Gene Symbol: |
RRDX |
RRDX
|
|
Radial ray deficiency
|
|
10
|
0.805 |
0.154 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2013 |
2013 |