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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hereditary sensory and autonomic neuropathy type 2A
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Accession:DOID:0070155 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: HSAN IIA;   HSAN2A;   HSN IIA;   HSN2A;   acroosteolysis, Giaccai type;   hereditary sensory and autonomic neuropathy, type IIA;   hereditary sensory neuropathy, type IIA;   neurogenic acroosteolysis;   progressive sensory neuropathy, of children
 related_synonym: Morvan disease
 xref: MIM:201300;   MONDO:0024309


show annotations for term's descendants           Sort by:
hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:21820098 PMID:22258533 PMID:25265257 PMID:25741868 PMID:26125038 More... NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G LOC100506124 uncharacterized LOC100506124 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,857,475...165,871,941 JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,293,739...165,294,033 JBrowse link
G LOC126806396 BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,460,618...165,461,817 JBrowse link
G LOC129388938 MPRA-validated peak3912 silencer IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,574,005...165,574,205 JBrowse link
G LOC129935043 ATAC-STARR-seq lymphoblastoid silent region 12066 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,193,304...165,193,353 JBrowse link
G LOC129935044 ATAC-STARR-seq lymphoblastoid active region 16726 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,595,066...165,595,115 JBrowse link
G LOC129935045 ATAC-STARR-seq lymphoblastoid active region 16727 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,595,186...165,595,235 JBrowse link
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,874,554...165,874,753 JBrowse link
G LOC129935047 ATAC-STARR-seq lymphoblastoid active region 16729 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,898,024...165,898,113 JBrowse link
G LOC130007151 ATAC-STARR-seq lymphoblastoid active region 5791 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:28492532 NCBI chr12:801,608...801,657 JBrowse link
G LOC130007152 ATAC-STARR-seq lymphoblastoid active region 5792 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:28492532 NCBI chr12:905,664...905,763 JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 ClinVar PMID:374104 PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 ClinVar PMID:374104 PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,749...165,949,891 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP ClinVar Annotator: match by term: ACROOSTEOLYSIS, GIACCAI TYPE | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 OMIM
ClinVar		 PMID:9536098 PMID:11498583 PMID:15060842 PMID:15455397 PMID:15911806 More... NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        Nervous System Malformations 3242
          hereditary sensory neuropathy 100
            hereditary sensory and autonomic neuropathy type 2 27
              hereditary sensory and autonomic neuropathy type 2A 24
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          neurodegenerative disease 7869
            Nervous System Heredodegenerative Disorders 4904
              hereditary sensory neuropathy 100
                hereditary sensory and autonomic neuropathy type 2 27
                  hereditary sensory and autonomic neuropathy type 2A 24
paths to the root