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: autosomal recessive distal hereditary motor neuronopathy
Accession: DOID:0111197
browse the term
Definition: A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms: exact_synonym: autosomal recessive distal spinal muscular atrophy
xref: ORDO:140468
For additional species annotation, visit the
Alliance of Genome Resources .
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 ClinVar Annotator: match by OMIM:604320
ClinVar OMIM
PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30598237 PMID:32488064 , PMID:11528396
RGD:737748
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
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Ca9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,452,348...59,454,235
Ensembl chr 5:59,452,348...59,454,233
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,490,689...59,509,139
Ensembl chr 5:59,491,096...59,509,138
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
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Fam166b
family with sequence similarity 166, member B
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,883,064...58,884,136
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Fam205a
family with sequence similarity 205, member A
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
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Fam214b
family with sequence similarity 214, member B
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,156,079...59,165,440
Ensembl chr 5:59,156,071...59,165,160
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
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Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,415,415...59,446,732
Ensembl chr 5:59,416,076...59,446,647
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,150,344...59,152,599
Ensembl chr 5:59,150,345...59,152,599
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,228,138...59,228,915
Ensembl chr 5:59,228,199...59,228,519
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
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LOC100360821
rCG55159-like
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
Ensembl chr 5:59,084,626...59,085,676
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
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Olr834
olfactory receptor 834
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,207,120...59,208,058
Ensembl chr 5:59,207,120...59,208,058
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Olr838
olfactory receptor 838
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,291,988...59,292,944
Ensembl chr 5:59,291,988...59,292,944
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135
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Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar OMIM
PMID:24088041 PMID:25741868 PMID:26078401 PMID:26467025 PMID:26633545 PMID:27629094 PMID:28492532 PMID:28708278
NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
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Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,165,552...59,193,772
Ensembl chr 5:59,178,846...59,191,975
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 2
ClinVar
PMID:28492532
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 ClinVar Annotator: match by OMIM:611067
OMIM ClinVar
PMID:16728649 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 PMID:26392352 PMID:26752306 PMID:28492532
NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
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Tnfrsf25
TNF receptor superfamily member 25
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4
ClinVar
NCBI chr 5:169,288,419...169,293,137
Ensembl chr 5:169,288,871...169,293,137
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Des
desmin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
ClinVar
PMID:28492532
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by OMIM:614881 ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
OMIM ClinVar
PMID:22522442 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26257172 PMID:27083531 PMID:27449489 PMID:28492532
NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
ClinVar
PMID:28492532
NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
ClinVar
PMID:28492532
NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5
ClinVar
PMID:28492532
NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
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