|
| Entrez Id: |
3145 |
| Gene Symbol: |
HMBS |
HMBS
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5428 |
| Gene Symbol: |
POLG |
POLG
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical and molecular features of POLG-related mitochondrial disease.
|
23545419 |
2013 |
|
| Entrez Id: |
5428 |
| Gene Symbol: |
POLG |
POLG
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
Polymerase gamma 1 mutations: clinical correlations.
|
20220442 |
2010 |
|
| Entrez Id: |
5888 |
| Gene Symbol: |
RAD51 |
RAD51
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5604 |
| Gene Symbol: |
MAP2K1 |
MAP2K1
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
|
| Entrez Id: |
7703 |
| Gene Symbol: |
PCGF2 |
PCGF2
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
79631 |
| Gene Symbol: |
EFL1 |
EFL1
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5604 |
| Gene Symbol: |
MAP2K1 |
MAP2K1
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
|
19156172 |
2009 |
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
253738 |
| Gene Symbol: |
EBF3 |
EBF3
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
22012259 |
2011 |
|
| Entrez Id: |
5604 |
| Gene Symbol: |
MAP2K1 |
MAP2K1
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
|
17567882 |
2007 |
|
| Entrez Id: |
6659 |
| Gene Symbol: |
SOX4 |
SOX4
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
|
| Entrez Id: |
1654 |
| Gene Symbol: |
DDX3X |
DDX3X
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5530 |
| Gene Symbol: |
PPP3CA |
PPP3CA
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
|
| Entrez Id: |
1308 |
| Gene Symbol: |
COL17A1 |
COL17A1
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5604 |
| Gene Symbol: |
MAP2K1 |
MAP2K1
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
|
| Entrez Id: |
55904 |
| Gene Symbol: |
KMT2E |
KMT2E
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10847 |
| Gene Symbol: |
SRCAP |
SRCAP
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
| Entrez Id: |
284058 |
| Gene Symbol: |
KANSL1 |
KANSL1
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
816 |
| Gene Symbol: |
CAMK2B |
CAMK2B
|
Constipation
|
0.100 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
Constipation
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|