NHLH1, nescient helix-loop-helix 1, 4807

N. diseases: 33; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. 26449438 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE NSCL/P is a common congenital defect and gene-environmental factors involve in this disorder. 25716564 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip, with or without cleft palate (NSCL/P) is a common craniofacial birth defect, characterised by an incomplete separation between nasal and oral cavities without any other congenital anomaly in humans. 25953455 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. 26198054 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect which is strongly associated with genetic factors. 25220223 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. 26505415 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. 25775280 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip/palate (NSCL/P) is a common congenital defect in Mexico. 24460828 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial malformation, with an incidence of about 1/700 live births, although variable according to ethnicity. 24942095 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE In combination with results from our previous study using the same sample, our data suggest that the majority of the known NSCL/P susceptibility regions identified to date also confer risk for this malformation in the Mesoamerican population. 24382704 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect of complex etiology. 25163644 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. 24606907 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) are common birth defects with a complex etiology. 23940636 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. 24038802 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non‑syndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital deformity, often associated with missing or deformed teeth. 23921572 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL +/- P) is a highly prevalent birth defect, its incidence in males being twice that in females. 23385809 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common orofacial birth defect with a wide range prevalence among different populations. 23679094 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. 23776525 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Previously, at least 68 rare coding variants were reported from candidate gene sequencing studies in non-syndromic cleft lip and palate (NSCL/P), a common birth defect. 22978696 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. 22984993 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital anomalies, with a complex and still not fully understood etiology. 22887353 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial malformation in humans. 23166094 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital anomalies, and has a multifactorial etiology involving both environmental and genetic factors. 23081944 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital malformations and a susceptibility locus on chromosome 8q24 has been replicated as a genetic risk factor for NSCL/P in patients of European and Asian descent. 22044123 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with complex etiology reflecting the action of multiple genetic and environmental factors. 23008150 2012