CALM3, calmodulin 3, 808

N. diseases: 215; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.340 GeneticVariation disease ORPHANET
CUI: C0039070
Disease: Syncope
Syncope 		0.110 Biomarker phenotype HPO
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.100 GeneticVariation disease CLINVAR
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.100 Biomarker disease HPO
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 Biomarker phenotype HPO
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.100 Biomarker phenotype HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.060 AlteredExpression disease BEFREE TPA markedly inhibited expression of all three CaM genes in melanocytes; however, in melanomas the net effect of TPA was to increase their expression. 1469290 1992
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		0.070 Biomarker disease BEFREE The identification of ICAM-1 (CD54) and H-CAM (CD44) on human plasma cells was the initial observation, and other antigens such as N-CAM (CD56) and LFA-3 (CD58) have been confirmed as features of malignant plasma cells in particular. 1490146 1992
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		0.070 Biomarker disease BEFREE The identification of ICAM-1 (CD54) and H-CAM (CD44) on human plasma cells was the initial observation, and other antigens such as N-CAM (CD56) and LFA-3 (CD58) have been confirmed as features of malignant plasma cells in particular. 1490146 1992
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 Biomarker disease BEFREE Using intact ethanol-fixed cytokeratin monoclonal (CAM 5.2) and propidium iodide dual-stained cells, we have performed two-color multiparametric flow cytometric (FCM) DNA analysis and S-phase fraction (SPF) determination on 165 mechanically dissociated breast carcinomas. 1690316 1990
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Whether its expression and the observed antigenic heterogeneity is just a manifestation of malignancy or N-CAM may play a role in the biology of multiple myeloma regarding tumour cell spread, remains to be explained. 1706237 1991
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.100 AlteredExpression disease BEFREE We conclude that N-CAM expression is a common finding in multiple myeloma. 1706237 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Whether its expression and the observed antigenic heterogeneity is just a manifestation of malignancy or N-CAM may play a role in the biology of multiple myeloma regarding tumour cell spread, remains to be explained. 1706237 1991
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 Biomarker group BEFREE Whether its expression and the observed antigenic heterogeneity is just a manifestation of malignancy or N-CAM may play a role in the biology of multiple myeloma regarding tumour cell spread, remains to be explained. 1706237 1991
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 Biomarker disease BEFREE We have examined the expression of the epithelial-specific cell adhesion molecule uvomorulin (E-cadherin, cell-CAM 120/80, L-CAM) in human breast cancer cell lines. 1793731 1991
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 Biomarker disease BEFREE We have examined the expression of the epithelial-specific cell adhesion molecule uvomorulin (E-cadherin, cell-CAM 120/80, L-CAM) in human breast cancer cell lines. 1793731 1991
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.040 AlteredExpression disease BEFREE Sequential immunoprecipitation and peptide mapping demonstrated that the Leu-19 and N-CAM molecules expressed on leukocyte and neuroblastoma cell lines are similar structures. 2471777 1989
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 AlteredExpression disease BEFREE Sequential immunoprecipitation and peptide mapping demonstrated that the Leu-19 and N-CAM molecules expressed on leukocyte and neuroblastoma cell lines are similar structures. 2471777 1989
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 AlteredExpression disease BEFREE Sequential immunoprecipitation and peptide mapping demonstrated that the Leu-19 and N-CAM molecules expressed on leukocyte and neuroblastoma cell lines are similar structures. 2471777 1989
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.010 AlteredExpression disease BEFREE These changes in N-CAM expression could be reversed by treatment of hypothyroid rats with thyroxine. 3297787 1987
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Notably, in addition to the expression of a neural marker gene N-CAM, the three nuclear oncogenes, c-, L-, and N-myc, were coexpressed in the tumors. 7542254 1995
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.020 GeneticVariation disease BEFREE The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes. 7562969 1995
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 GeneticVariation disease BEFREE Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969 1995
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		0.010 GeneticVariation disease BEFREE The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes. 7562969 1995
CUI: C0025007
Disease: Measles
Measles 		0.010 Biomarker disease BEFREE Murine immunization with RAd68 elicited (i) a humoral immune response to N, (ii) a major histocompatibility complex class I-restricted, antigen-specific cytotoxic T cell response, and (iii) protection against challenge with the measles virus CAM/RB strain in mice. 7618280 1995