|
| Entrez Id: |
9420 |
| Gene Symbol: |
CYP7B1 |
CYP7B1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
285203 |
| Gene Symbol: |
EOGT |
EOGT
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
55112 |
| Gene Symbol: |
WDR60 |
WDR60
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51057 |
| Gene Symbol: |
WDPCP |
WDPCP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10908 |
| Gene Symbol: |
PNPLA6 |
PNPLA6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57572 |
| Gene Symbol: |
DOCK6 |
DOCK6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
27130 |
| Gene Symbol: |
INVS |
INVS
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
89891 |
| Gene Symbol: |
WDR34 |
WDR34
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
79659 |
| Gene Symbol: |
DYNC2H1 |
DYNC2H1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
54903 |
| Gene Symbol: |
MKS1 |
MKS1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
80184 |
| Gene Symbol: |
CEP290 |
CEP290
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
80776 |
| Gene Symbol: |
B9D2 |
B9D2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3516 |
| Gene Symbol: |
RBPJ |
RBPJ
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
79867 |
| Gene Symbol: |
TCTN2 |
TCTN2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4351 |
| Gene Symbol: |
MPI |
MPI
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
79583 |
| Gene Symbol: |
TMEM231 |
TMEM231
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
261734 |
| Gene Symbol: |
NPHP4 |
NPHP4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4867 |
| Gene Symbol: |
NPHP1 |
NPHP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57539 |
| Gene Symbol: |
WDR35 |
WDR35
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
199221 |
| Gene Symbol: |
DZIP1L |
DZIP1L
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5314 |
| Gene Symbol: |
PKHD1 |
PKHD1
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Congenital hepatic fibrosis (CHF) is a genetic liver disease caused by mutations of the PKHD1 gene.
|
30898581 |
2019 |
|
| Entrez Id: |
5314 |
| Gene Symbol: |
PKHD1 |
PKHD1
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
|
19914852 |
2010 |
|
TTC21B-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
|
24876116 |
2014 |
|
| Entrez Id: |
79809 |
| Gene Symbol: |
TTC21B |
TTC21B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
|
24876116 |
2014 |
|
| Entrez Id: |
91147 |
| Gene Symbol: |
TMEM67 |
TMEM67
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
|
26191240 |
2015 |