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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 Biomarker disease BEFREE Binding sites for epidermal growth factor (EGF) had been described previously in NSCL, therefore we found erbB homologue transcripts coding for the EGF receptor in all NSCLC cell lines. 1690210 1990
CUI: C0027819
Disease: Neuroblastoma
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: 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: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 Biomarker disease BEFREE The HEN1 gene was identified on the basis of cross-hybridization with TAL1, a known bHLH gene implicated in T-cell acute lymphoblastic leukemia. 1528853 1992
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: 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: 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: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.020 Biomarker disease BEFREE No evidence for linkage of NSCL/P to vWS was found on the 21 families using the LOD score approach. 11746036 2001
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE In conclusion, although MMP9 may potentially promote tumor growth and metastasis, production of MMP-dependent anti-angiogenic factors seems to override these effects and protects the host from NSCL growth and progression. 16086239 2005
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.010 GeneticVariation disease BEFREE The aim of this study was to characterize Swedish families with non-syndromic cleft lip and/or palate (NSCL/P) for mutations or other sequence variants in the interferon regulatory factor 6 (IRF6) gene, as well as to describe their cleft phenotypes and hypodontia. 18209213 2008
CUI: C0025149
Disease: Medulloblastoma
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: 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: 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: 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: 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: 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: 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
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		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: 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 birth defects. 20564431 2010
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) 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 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all birth defects. 20564431 2010
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: 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: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		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