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: 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 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. 30848863 2019
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: 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 Biomarker disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans and is notable for its apparent sexual dimorphism where approximately twice as many males are affected as females. 30277614 2018
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease BEFREE Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. 28817352 2017
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial birth defect that has a complex etiology. 27154735 2016
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 Biomarker disease BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. 26505415 2015
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect of complex etiology. 25163644 2014
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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: 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: C1737329
Disease: Dysmorphism
Dysmorphism
0.100 Biomarker disease 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