|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
|
20098342 |
2010 |
|
| Entrez Id: |
255928 |
| Gene Symbol: |
SYT14 |
SYT14
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
|
17304550 |
2007 |
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
|
10407778 |
1999 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
255928 |
| Gene Symbol: |
SYT14 |
SYT14
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57531 |
| Gene Symbol: |
HACE1 |
HACE1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
|
26437029 |
2015 |
|
| Entrez Id: |
2348 |
| Gene Symbol: |
FOLR1 |
FOLR1
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
|
19732866 |
2009 |
|
| Entrez Id: |
2074 |
| Gene Symbol: |
ERCC6 |
ERCC6
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
|
18628313 |
2008 |
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
|
8955270 |
1996 |
|
| Entrez Id: |
7416 |
| Gene Symbol: |
VDAC1 |
VDAC1
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.
|
8726225 |
1996 |
|
| Entrez Id: |
1392 |
| Gene Symbol: |
CRH |
CRH
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
Critical role of endogenous corticotropin-releasing factor (CRF) in the mediation of the behavioral action of cocaine in rats.
|
1335535 |
1992 |
|
| Entrez Id: |
56945 |
| Gene Symbol: |
MRPS22 |
MRPS22
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3913 |
| Gene Symbol: |
LAMB2 |
LAMB2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29929 |
| Gene Symbol: |
ALG6 |
ALG6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8820 |
| Gene Symbol: |
HESX1 |
HESX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5860 |
| Gene Symbol: |
QDPR |
QDPR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2068 |
| Gene Symbol: |
ERCC2 |
ERCC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23522 |
| Gene Symbol: |
KAT6B |
KAT6B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
C12orf65
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
56922 |
| Gene Symbol: |
MCCC1 |
MCCC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4212 |
| Gene Symbol: |
MEIS2 |
MEIS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57465 |
| Gene Symbol: |
TBC1D24 |
TBC1D24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
91647 |
| Gene Symbol: |
ATPAF2 |
ATPAF2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9197 |
| Gene Symbol: |
SLC33A1 |
SLC33A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|