FUZ, fuzzy planar cell polarity protein, 80199

N. diseases: 75; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.600 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.600 Biomarker disease HPO
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 GeneticVariation group BEFREE Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes.But are they a simple model? 27768235 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 Biomarker group BEFREE The beneficial effect of periconceptional folic acid on NTD prevention denotes a vital role for the single-carbon biochemical pathway in NTD genesis. 24013316 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 GeneticVariation group BEFREE Among the two communities, Muslim NTD mothers had higher TT genotype showing increased risk for neural tube defects (adjusted OR: 12.9; 95% CI: 1.21-136.8) and lower folic acid supplementation (adjusted OR: 3.5; 95% CI: 1.18-10.22). 21792640 2011
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 GeneticVariation group BEFREE Similarly, attention focused on the human homologues of mouse NTD genes has contributed only limited positive findings to date, although an emerging association between genes of the non-canonical Wnt (planar cell polarity) pathway and NTDs provides candidates for future studies. 19808787 2009
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 GeneticVariation group BEFREE The inspired suggestion by Smithells that common vitamins might prevent NTDs ignited a decade of biochemical investigations-first exploring the nutritional and metabolic factors related to NTDs, then onto the hunt for NTD genes. 19235830 2009
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 Biomarker group BEFREE Genetic and embryological approaches to studies of neural tube defects: a critical review. NTD Collaborative Group. 10672589 2000
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 GeneticVariation group BEFREE Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. 10517251 1999
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 Biomarker group BEFREE Genetic correlation of human neural tube defects (NTDs) with NTD genes identified in mouse may unravel predisposing complex traits for assessment of individual risk and treatment in clinical settings. 10545599 1999
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 GeneticVariation group BEFREE The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. 10732818 1997
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 Biomarker group GENOMICS_ENGLAND
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.590 Biomarker group CTD_human
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.400 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.400 Biomarker disease HPO
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 SusceptibilityMutation disease CLINVAR
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C0555206
Disease: Chiari malformation type II
Chiari malformation type II 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome 		0.300 GermlineCausalMutation phenotype ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human