Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0009806
Disease: Constipation
Constipation 		0.130 CausalMutation CLINVAR

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419

2013
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442

2010
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR