SEZ6, seizure related 6 homolog, 124925

N. diseases: 12; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		0.100 GeneticVariation disease CLINVAR De novo variants in sporadic cases of childhood onset schizophrenia. 26508570 2016
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.030 GeneticVariation phenotype BEFREE Seizure-related gene 6 (Sez6), Sez6-Like (Sez6L), and Sez6-Like 2 (Sez6L2) comprise a family of homologous proteins widely expressed throughout the brain that have been linked to neurodevelopmental and psychiatric disorders. 31711114 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.030 Biomarker phenotype BEFREE Sez6 and Sez6L were selected due to their predominant cleavage by BACE1, and their potential role in synaptic function that may contribute to presentation of seizures and/or motor impairments in NPC patients. 29979789 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.030 GeneticVariation phenotype BEFREE For instance, seizure-related gene 6 (SEZ6) has been reported in brain development and psychiatric disorders and is differentially expressed in the cerebrospinal fluid of AD cases. 30309378 2018
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 AlteredExpression group BEFREE Seizure-related gene 6 (Sez6), Sez6-Like (Sez6L), and Sez6-Like 2 (Sez6L2) comprise a family of homologous proteins widely expressed throughout the brain that have been linked to neurodevelopmental and psychiatric disorders. 31711114 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.020 AlteredExpression phenotype BEFREE Seizure-related gene 6 (Sez6), Sez6-Like (Sez6L), and Sez6-Like 2 (Sez6L2) comprise a family of homologous proteins widely expressed throughout the brain that have been linked to neurodevelopmental and psychiatric disorders. 31711114 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 Biomarker group BEFREE For instance, seizure-related gene 6 (SEZ6) has been reported in brain development and psychiatric disorders and is differentially expressed in the cerebrospinal fluid of AD cases. 30309378 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.020 Biomarker phenotype BEFREE For instance, seizure-related gene 6 (SEZ6) has been reported in brain development and psychiatric disorders and is differentially expressed in the cerebrospinal fluid of AD cases. 30309378 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE These results support a role of exome sequencing for disease-associated variant discovery and reinforce available data on SEZ6 in AD models. 30309378 2018
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.010 Biomarker disease BEFREE BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains. 29979789 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 GeneticVariation disease BEFREE On sequencing, we also found a mutation in the seizure-related 6 homolog (mouse)-like (SEZ6L) gene located at ch.22q12.1 in an MM cell line, NOP1. 22972171 2012
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 GeneticVariation disease BEFREE No mutations were found in healthy controls, but 21 of the patients with FS had mutations in SEZ-6, and the most common type of mutation was a heterozygous, cytosine insertion (frame shift mutation) at position 1435 of the cDNA. 17086543 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease LHGDN Screening for mutations in SEZ-6 may be valuable in predicting FS recurrence or the development of epilepsy. 17086543 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Screening for mutations in SEZ-6 may be valuable in predicting FS recurrence or the development of epilepsy. 17086543 2007