SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA ×
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