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 GeneticVariation group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a complex genetic architecture. 30273098 2019
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 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental components. 19320731 2009
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 GeneticVariation group BEFREE The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate (NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. 30578914 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) are the most common human congenital birth defects with a complex etiology. 30024657 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals. 29053389 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Our study provided additional understanding of the genetic etiology of NSCL/P and underlined the importance of considering gene-gene interaction in the etiology of this common craniofacial malformation. 29341488 2018
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 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 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 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 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. 20572868 2010
CUI: C0220810
Disease: Congenital defects
Congenital defects
0.100 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) are the most common human congenital birth defects with a complex etiology. 30024657 2018
CUI: C0220810
Disease: Congenital defects
Congenital defects
0.100 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental components. 19320731 2009
CUI: C0220810
Disease: Congenital defects
Congenital defects
0.100 GeneticVariation group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. 20572868 2010
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 GeneticVariation disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a complex genetic architecture. 30273098 2019
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 GeneticVariation disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 GeneticVariation disease BEFREE The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate (NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. 30578914 2018
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 GeneticVariation disease 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: C0302142
Disease: Deformity
Deformity
0.070 GeneticVariation group BEFREE Our study provided additional understanding of the genetic etiology of NSCL/P and underlined the importance of considering gene-gene interaction in the etiology of this common craniofacial malformation. 29341488 2018
CUI: C0302142
Disease: Deformity
Deformity
0.070 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: C0302142
Disease: Deformity
Deformity
0.070 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: C0302142
Disease: Deformity
Deformity
0.070 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