SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		0.610 Biomarker disease GENOMICS_ENGLAND Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. 29782645 2018
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		0.610 GeneticVariation disease BEFREE Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). 27569547 2016
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		0.610 Biomarker disease GENOMICS_ENGLAND Defective presynaptic choline transport underlies hereditary motor neuropathy. 23141292 2012
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		0.610 Biomarker disease GENOMICS_ENGLAND Defective presynaptic choline transport underlies hereditary motor neuropathy. 23141292 2012
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		0.610 CausalMutation disease CLINVAR
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		0.610 Biomarker disease CTD_human
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 GeneticVariation disease UNIPROT Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 26786006 2016
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 CausalMutation disease CLINVAR
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 GeneticVariation disease CLINVAR
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.530 GeneticVariation disease BEFREE We report the identification and functional characterization of a novel pathogenic variant in SLC5A7, c.788C>T (p.Ser263Phe) in an El Salvadorian family with a lethal form of a congenital myasthenic syndrome characterized by fetal akinesia. 31299140 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.530 GeneticVariation disease BEFREE One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143). 30172469 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.530 GeneticVariation disease BEFREE We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. 27569547 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.530 Biomarker disease GENOMICS_ENGLAND Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 26786006 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.530 Biomarker disease CTD_human
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 Biomarker disease CTD_human
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.310 Biomarker group PSYGENET Further analyses of molecular and functional compensations in the CHT+/- model may provide insights into both risk and resiliency factors involved in cognitive and mood disorders. 23958450 2013
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.310 Biomarker group BEFREE Further analyses of molecular and functional compensations in the CHT+/- model may provide insights into both risk and resiliency factors involved in cognitive and mood disorders. 23958450 2013
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		0.310 Biomarker disease PSYGENET MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C (rs2242446) with recurrent depression [odds ratio, OR = 4.15 (1.91-9.02)], NET -3081 A/T (rs28386840) with increase in appetite [OR = 3.58 (1.53-8.39)] and the presynaptic choline transporter (CHT, SLC5A7) Ile89Val (rs1013940) with HAM-D-17 total score {i.e. overall depression severity [OR = 2.74 (1.05-7.18)]}. 18081710 2008
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		0.310 GeneticVariation disease BEFREE MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C (rs2242446) with recurrent depression [odds ratio, OR = 4.15 (1.91-9.02)], NET -3081 A/T (rs28386840) with increase in appetite [OR = 3.58 (1.53-8.39)] and the presynaptic choline transporter (CHT, SLC5A7) rs1013940" genes_norm="60482">Ile89Val (rs1013940) with HAM-D-17 total score {i.e. overall depression severity [OR = 2.74 (1.05-7.18)]}. 18081710 2008
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.310 Biomarker phenotype PSYGENET Our previous work has shown genetic variation in the human choline transporter gene (CHT1) to be associated with depressive symptoms and autonomic cardiac (cholinergic) dysregulation. 16876130 2006
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.310 GeneticVariation phenotype BEFREE Our previous work has shown genetic variation in the human choline transporter gene (CHT1) to be associated with depressive symptoms and autonomic cardiac (cholinergic) dysregulation. 16876130 2006