×
Entrez Id:
5979
Gene Symbol:
RET
RET
Constipation
0.130
CausalMutation
CLINVAR
×
Entrez Id:
7355
Gene Symbol:
SLC35A2
SLC35A2
Constipation
0.100
GeneticVariation
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854
2019
×
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:
5428
Gene Symbol:
POLG
POLG
Constipation
0.100
GeneticVariation
CLINVAR
Understanding the Epilepsy in POLG Related Disease.
28837072
2017
×
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:
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:
2186
Gene Symbol:
BPTF
BPTF
Constipation
0.100
CausalMutation
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Constipation
0.100
CausalMutation
CLINVAR
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
26650189
2016
×
Entrez Id:
2475
Gene Symbol:
MTOR
MTOR
Constipation
0.100
CausalMutation
CLINVAR
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
27159400
2016
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Constipation
0.100
CausalMutation
CLINVAR
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
25803691
2015
×
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:
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:
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:
5428
Gene Symbol:
POLG
POLG
Constipation
0.100
GeneticVariation
CLINVAR
Polymerase gamma 1 mutations: clinical correlations.
20220442
2010
×
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:
5604
Gene Symbol:
MAP2K1
MAP2K1
Constipation
0.100
CausalMutation
CLINVAR
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
17981815
2008
×
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:
5604
Gene Symbol:
MAP2K1
MAP2K1
Constipation
0.100
CausalMutation
CLINVAR
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
17366577
2007
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Constipation
0.100
CausalMutation
CLINVAR
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
17551924
2007
×
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:
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:
55023
Gene Symbol:
PHIP
PHIP
Constipation
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
2904
Gene Symbol:
GRIN2B
GRIN2B
Constipation
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
Constipation
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
1291
Gene Symbol:
COL6A1
COL6A1
Constipation
0.100
GeneticVariation
CLINVAR