|
| Entrez Id: |
23059 |
| Gene Symbol: |
CLUAP1 |
CLUAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
|
28679688 |
2017 |
|
| Entrez Id: |
54084 |
| Gene Symbol: |
TSPEAR |
TSPEAR
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
|
27736875 |
2016 |
|
TSPEAR-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
|
27736875 |
2016 |
|
| Entrez Id: |
8289 |
| Gene Symbol: |
ARID1A |
ARID1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7508 |
| Gene Symbol: |
XPC |
XPC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
85358 |
| Gene Symbol: |
SHANK3 |
SHANK3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51604 |
| Gene Symbol: |
PIGT |
PIGT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1801 |
| Gene Symbol: |
DPH1 |
DPH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55644 |
| Gene Symbol: |
OSGEP |
OSGEP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6870 |
| Gene Symbol: |
TACR3 |
TACR3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55784 |
| Gene Symbol: |
MCTP2 |
MCTP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
283120 |
| Gene Symbol: |
H19 |
H19
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80055 |
| Gene Symbol: |
PGAP1 |
PGAP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3892 |
| Gene Symbol: |
KRT86 |
KRT86
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54676 |
| Gene Symbol: |
GTPBP2 |
GTPBP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
60675 |
| Gene Symbol: |
PROK2 |
PROK2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55746 |
| Gene Symbol: |
NUP133 |
NUP133
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84168 |
| Gene Symbol: |
ANTXR1 |
ANTXR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6595 |
| Gene Symbol: |
SMARCA2 |
SMARCA2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1280 |
| Gene Symbol: |
COL2A1 |
COL2A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11107 |
| Gene Symbol: |
PRDM5 |
PRDM5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2073 |
| Gene Symbol: |
ERCC5 |
ERCC5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6866 |
| Gene Symbol: |
TAC3 |
TAC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|