L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 AlteredExpression disease BEFREE Functionally, mimetic peptide, but not the reverse or scrambled peptides, increased viability and expression of neural cell adhesion molecule L1 in SK-N-SH human neuroblastoma cells, and promoted survival and neurite outgrowth of cultured mouse cerebellar granule neurons challenged by H<sub>2</sub>O<sub>2</sub>-induced oxidative stress. 31823885 2020
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 AlteredExpression disease BEFREE Functionally, mimetic peptide, but not the reverse or scrambled peptides, increased viability and expression of neural cell adhesion molecule L1 in SK-N-SH human neuroblastoma cells, and promoted survival and neurite outgrowth of cultured mouse cerebellar granule neurons challenged by H<sub>2</sub>O<sub>2</sub>-induced oxidative stress. 31823885 2020
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 AlteredExpression disease BEFREE Functionally, mimetic peptide, but not the reverse or scrambled peptides, increased viability and expression of neural cell adhesion molecule L1 in SK-N-SH human neuroblastoma cells, and promoted survival and neurite outgrowth of cultured mouse cerebellar granule neurons challenged by H<sub>2</sub>O<sub>2</sub>-induced oxidative stress. 31823885 2020
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.100 Biomarker disease BEFREE L1CAM Predicts Adverse Outcomes in Patients with Endometrial Cancer Undergoing Full Lymphadenectomy and Adjuvant Chemotherapy. 31792716 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.100 Biomarker disease BEFREE L1CAM Predicts Adverse Outcomes in Patients with Endometrial Cancer Undergoing Full Lymphadenectomy and Adjuvant Chemotherapy. 31792716 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE L1CAM positivity was significantly correlated with non-endometrioid histology (p < 0.0001), vascular invasion (p = 0.0157), and positive cytology (p = 0.005), and was a significant predictor of poor survival among advanced-stage patients, but not early-stage patients in our cohort. 31792716 2019
CUI: C0280255
Disease: stage, endometrial carcinoma
stage, endometrial carcinoma 		0.020 Biomarker phenotype BEFREE We investigated whether L1CAM remains a significant predictor of poor survival of patients with advanced-stage endometrial cancer undergoing extensive surgical staging and adjuvant chemotherapy. 31792716 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.200 GeneticVariation disease BEFREE In addition, <i>Ccdc39<sup>prh/prh</sup></i> mutants with L1 cell adhesion molecule (<i>L1cam</i>) gene mutation, which causes X-linked human congenital hydrocephalus, showed an accelerated early hydrocephalus phenotype (<i>P</i><0.05-0.01). 31771992 2019
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease BEFREE A new frameshift mutation in L1CAM producing X-linked hydrocephalus. 31756056 2020
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.200 Biomarker disease BEFREE The objective of the study was to report a new disease-causing mutation site of L1CAM, and gain further insight into the pathophysiology of hydrocephalus. 31756056 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE X-linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. 31756056 2020
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE X-linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. 31756056 2020
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.090 Biomarker disease BEFREE We identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases. 31756056 2020
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.090 Biomarker disease BEFREE We identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases. 31756056 2020
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		0.090 Biomarker disease BEFREE We identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases. 31756056 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression phenotype BEFREE Elevated L1CAM expression was an independent prognostic factor for overall and disease-free survival, and an independent risk factor for distant metastasis in GC patients. 31754264 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 AlteredExpression phenotype BEFREE L1 cell adhesion molecule (L1CAM) is highly expressed in malignant tumours and might play a pivotal role in tumour progression. 31754264 2019
CUI: C0018081
Disease: Gonorrhea
Gonorrhea 		0.010 AlteredExpression disease BEFREE Elevated L1CAM expression was an independent prognostic factor for overall and disease-free survival, and an independent risk factor for distant metastasis in GC patients. 31754264 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 Biomarker disease BEFREE Moreover, there were substantial increases in the neuronal marker NCAM-1, L1CAM, and Aβ in EVs isolated from serum and brain tissues of the GlcCer-treated AD model mice. 31727994 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE The physical interaction between the cancer cell and the endothelial cell is mediated by integrins and L1CAM and could be involved in aggressive growth but also latency and immune evasion. 31701335 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE The physical interaction between the cancer cell and the endothelial cell is mediated by integrins and L1CAM and could be involved in aggressive growth but also latency and immune evasion. 31701335 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 Biomarker disease BEFREE Collectively, our study suggested serum levels of KLK5 and L1CAM potentially serve as biomarkers for anlotinib-responsive stratification in NSCLC patients at 3rd line. 31572680 2019
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.090 GeneticVariation disease BEFREE The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (<i>L1CAM</i>), but silent mutations in <i>L1CAM</i> with pathogenic potential were rare and were usually ignored especially in whole-exome sequencing (WES) detection. 31572438 2019
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.090 GeneticVariation disease BEFREE The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (<i>L1CAM</i>), but silent mutations in <i>L1CAM</i> with pathogenic potential were rare and were usually ignored especially in whole-exome sequencing (WES) detection. 31572438 2019
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		0.090 GeneticVariation disease BEFREE The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (<i>L1CAM</i>), but silent mutations in <i>L1CAM</i> with pathogenic potential were rare and were usually ignored especially in whole-exome sequencing (WES) detection. 31572438 2019