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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation group BEFREE We investigated 33 cases of NSCL for LOH at 5q21: 22 squamous cell and 11 adenocarcinomas. 10549031 1999
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 Biomarker disease BEFREE An integrated approach identifies Nhlh1 and Insm1 as Sonic Hedgehog-regulated genes in developing cerebellum and medulloblastoma. 18231642 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation phenotype BEFREE These findings suggest that deregulated expression of p16 is involved in the multistage process of NSCL carcinogenesis and that deletions may represent a predominant mechanism of p16INK4A inactivation. 10470133 1999
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE Multiple studies have suggested nonsyndromic cleft lip with or without cleft palate (NSCL/P), and lung cancer may have common genetic etiology. 29688589 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE HEN1 and HEN2 are coexpressed in the IMR-32 human neuroblastoma cell line, and they encode highly related proteins of 133 and 135 residues, respectively, that share 98% amino acid identity in their hHLH domains. 1528853 1992
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.010 Biomarker disease BEFREE An integrated approach identifies Nhlh1 and Insm1 as Sonic Hedgehog-regulated genes in developing cerebellum and medulloblastoma. 18231642 2008
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE HEN1 and HEN2 are coexpressed in the IMR-32 human neuroblastoma cell line, and they encode highly related proteins of 133 and 135 residues, respectively, that share 98% amino acid identity in their hHLH domains. 1528853 1992
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 GeneticVariation phenotype BEFREE Single nucleotide polymorphisms located at chromosomal region 1p22 are not found to be associated with cleft lip with or without non-syndromic cleft palate (NSCL/P) and non-syndromic cleft palate only (NSCPO) at either the genotype or allele levels. 26586245 2015
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 GeneticVariation phenotype BEFREE This meta-analysis was conducted with the aim of investigating the association between <i>WNT3</i> gene polymorphisms and non-syndromic cleft lip (CL) with or without cleft palate (NSCL/P) predisposition. 30355643 2018
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 GeneticVariation phenotype BEFREE We used DNA from 167 Japanese NSCL±P patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 Japanese unaffected control individuals. 21981552 2012
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.060 GeneticVariation disease BEFREE The present study aimed to investigate the molecular mechanisms underlying non‑syndromic cleft lip, with or without cleft palate (NSCL/P), and the association between this disease and cancer. 26795696 2016
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.060 GeneticVariation 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: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.060 GeneticVariation 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: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.060 GeneticVariation disease BEFREE The pathogenesis of nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and nonsyndromic cleft palate only (NSCP) may be associated with genetic factors. 31337262 2020
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.060 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: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.060 GeneticVariation 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: C0008925
Disease: Cleft Palate
Cleft Palate 		0.050 GeneticVariation disease BEFREE The purpose of this study is to follow the familial incidence of non-syndromic or isolated cleft lip, with or without cleft palate (NSCL/P), and to analyze the relationships between the type of NSCL/P in the affected individual and his/her parent, looking at children in the first grade. 20526256 2010
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.050 Biomarker disease BEFREE Nonsyndromic cases of cleft lip with or without cleft palate (NSCL/P) and cleft palate only (NSCPO) are considered to have a multifactorial etiology which involves both genetic and environmental factors. 19938073 2009
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.050 GeneticVariation disease BEFREE Four SNPs in CRISPLD2 (rs1546124, rs8061351, rs2326398, and rs4783099) and four in JARID2 (rs915344, rs2299043, rs2237138, and rs2076056), that were previously reported to be associated with NSCL/P, were genotyped in 785 Brazilian patients with NSCL/P (549 with cleft lip with or without cleft palate-NSCL ± P, and 236 with cleft palate only-NSCPO) and 693 unaffected Brazilian controls. 27328068 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.050 GeneticVariation disease BEFREE We used DNA from 167 Japanese NSCL±P patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 Japanese unaffected control individuals. 21981552 2012
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.050 GeneticVariation disease BEFREE This meta-analysis was conducted with the aim of investigating the association between <i>WNT3</i> gene polymorphisms and non-syndromic cleft lip (CL) with or without cleft palate (NSCL/P) predisposition. 30355643 2018
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 Biomarker disease BEFREE Patients with NSCL±P treated between August 2013 and September 2014 at the Cleft Lip and Palate Integral Care Center (CAIF), Curitiba, Brazil, were invited to participate. 29641750 2018
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.050 GeneticVariation disease BEFREE The purpose of this study is to follow the familial incidence of non-syndromic or isolated cleft lip, with or without cleft palate (NSCL/P), and to analyze the relationships between the type of NSCL/P in the affected individual and his/her parent, looking at children in the first grade. 20526256 2010
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.050 GeneticVariation disease BEFREE We used DNA from 167 Japanese NSCL±P patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 Japanese unaffected control individuals. 21981552 2012
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.050 Biomarker disease BEFREE Nonsyndromic cases of cleft lip with or without cleft palate (NSCL/P) and cleft palate only (NSCPO) are considered to have a multifactorial etiology which involves both genetic and environmental factors. 19938073 2009