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 The GREM1 is involved in the etiology of NSCL±P in the Brazilian population and reveal that the interaction between GREM1 and NTN1 may be related with the pathogenesis of this common craniofacial malformation. 30402937 2019
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 Biomarker group BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of common birth defects in China, with genetic and environmental components contributing to the etiology. 30769929 2019
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, the risk of which is influenced from multiple genetic loci. 31132300 2019
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. 30848863 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. 29211286 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Our observation that the impact of genetic variants on NSCL/P risk differs for males and females may further our understanding of the genetic architecture of NSCL/P and the sex differences underlying clefts and other birth defects. 30277614 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a birth defect for which several genes susceptibility genes been proposed. 29694940 2018
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 Biomarker group BEFREE Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common human birth defects, it results from multiple genetic and environmental risk factors. 30048854 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. 28425186 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. 27734840 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE The non-syndromic cleft lip and/or palate (NSCL/P) is a common birth defect caused by a combination of genetic and environmental factors. 28096450 2017
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 congenital malformation among live births, and depends on race and ethnic background. 28151848 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE These findings may reflect the presence of a genomic region containing potential causal variants interacting in the etiology of NSCL/P and may contribute to disentangling the complex etiology of this birth defect. 28133786 2017
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 orofacial congenital anomaly. 28906376 2017
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 prevalent, complex congenital malformation. 27350171 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. 28762674 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, affecting 1 in 700 live births. 28019042 2017
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 with a complex and heterogeneous etiology. 28402597 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. 28817352 2017
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 craniofacial birth defect that has a complex etiology. 27154735 2016