Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

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: 8621
Gene Symbol: CDK13
CDK13
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation CLINVAR

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

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation CLINVAR

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: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation CLINVAR

Entrez Id: 79631
Gene Symbol: EFL1
EFL1
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: 3145
Gene Symbol: HMBS
HMBS
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation CLINVAR

Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation CLINVAR

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

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 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 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 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 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 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007