|
| Entrez Id: |
51185 |
| Gene Symbol: |
CRBN |
CRBN
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans.
|
27751757 |
2016 |
|
| Entrez Id: |
71 |
| Gene Symbol: |
ACTG1 |
ACTG1
|
0.300 |
Biomarker
|
disease |
CTD_human |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
|
| Entrez Id: |
60 |
| Gene Symbol: |
ACTB |
ACTB
|
0.300 |
Biomarker
|
disease |
CTD_human |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
0.300 |
Biomarker
|
disease |
CTD_human |
In vivo MRI of altered brain anatomy and fiber connectivity in adult pax6 deficient mice.
|
19329571 |
2009 |
|
| Entrez Id: |
161742 |
| Gene Symbol: |
SPRED1 |
SPRED1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
|
17704776 |
2007 |
|
| Entrez Id: |
79944 |
| Gene Symbol: |
L2HGDH |
L2HGDH
|
0.300 |
Biomarker
|
disease |
CTD_human |
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
|
15385440 |
2004 |
|
| Entrez Id: |
2245 |
| Gene Symbol: |
FGD1 |
FGD1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
|
11093277 |
2000 |
|
| Entrez Id: |
3198 |
| Gene Symbol: |
HOXA1 |
HOXA1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development.
|
10529420 |
1999 |
|
| Entrez Id: |
3211 |
| Gene Symbol: |
HOXB1 |
HOXB1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development.
|
10529420 |
1999 |
|
| Entrez Id: |
5077 |
| Gene Symbol: |
PAX3 |
PAX3
|
0.300 |
Biomarker
|
disease |
CTD_human |
A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch.
|
7556916 |
1995 |
|
| Entrez Id: |
7161 |
| Gene Symbol: |
TP73 |
TP73
|
0.200 |
Biomarker
|
disease |
CTD_mouse |
TAp73 knockout mice show morphological and functional nervous system defects associated with loss of p75 neurotrophin receptor.
|
24190996 |
2013 |
|
| Entrez Id: |
257 |
| Gene Symbol: |
ALX3 |
ALX3
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Craniofacial anomalies in FND include anterior cranium bifidum, ocular hypertelorism, orofacial clefting and notching or clefting of the alae nasi.
|
17955515 |
2007 |