COL13A1, collagen type XIII alpha 1 chain, 1305

N. diseases: 139; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 Biomarker disease MGD Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse. 28369367 2017
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. 26626625 2015
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 CausalMutation disease CLINVAR
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 GeneticVariation disease CLINVAR
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.500 GermlineCausalMutation disease ORPHANET Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. 26626625 2015
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. 26626625 2015
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.500 Biomarker disease CTD_human
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 Biomarker disease CTD_human
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.340 GeneticVariation disease BEFREE Our data further support the causality of COL13A1 variants for CMS and suggest that this type of CMS might be clinically homogenous and requires alternative pharmacological therapy. 30767057 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.340 GeneticVariation disease BEFREE The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. 31081514 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.340 GeneticVariation disease BEFREE We also report a CMS due to mutations in COL13A1, which encodes an extracellular matrix protein that is concentrated at the neuromuscular junction and highlights a role for these extracellular matrix proteins in maintaining synaptic stability that is independent of the AGRN/MuSK clustering pathway. 29363764 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.340 Biomarker disease BEFREE We show that the phenotypical changes in collagen XIII knock-out mice are milder than symptoms in human patients, but the Col13a1-/- mice recapitulate major muscle findings of congenital myasthenic syndrome type 19 and serve as a disease model. 28369367 2017
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.340 Biomarker disease CTD_human
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.300 Biomarker disease CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		0.300 Biomarker disease CTD_human
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease GWASCAT Parkinson disease loci in the mid-western Amish. 23793441 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease GWASDB Parkinson disease loci in the mid-western Amish. 23793441 2013
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. 20708005 2010