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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm 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: 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm 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: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		0.010 GeneticVariation disease BEFREE Herein, we selected three risk variants of NSCL/P namely rs8049367, rs4791774 and rs2235371, and performed association analysis with DD in a Chinese population consisting 631 elementary school-aged children with 288 dyslexic cases without NSCL/P and 343 healthy controls. 27734840 2017
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		0.010 GeneticVariation disease BEFREE Seventy-one Swedish NSCL/P families, 24 Finnish cleft palate (CP) families, and 24 VWS/PPS families (seven newly recruited) were studied. 23394314 2014
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: 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: 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: 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 Biomarker disease BEFREE The overall survival of NSCLC cases with a micronodule was not significantly different than the survival of the CT subset diagnosed with NSCL (p = 0.36). 31295576 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.020 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a common craniofacial anomaly with multifactorial etiology. 29437498 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.020 Biomarker group BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a common craniofacial anomaly of complex etiology in people. 24437584 2015
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.020 Biomarker disease BEFREE Seventy-one Swedish NSCL/P families, 24 Finnish cleft palate (CP) families, and 24 VWS/PPS families (seven newly recruited) were studied. 23394314 2014
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: 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: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.030 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: 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