Term: | Limb-girdle muscular dystrophy |
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Accession: | HP:0006785
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browse the term
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Definition: | Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). |
Synonyms: | alt_id: | HP:0009066 |
| xref: | MESH:D049288; SNOMEDCT_US:93153005; UMLS:C0686353 |
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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ORPHA:97240 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ANO5 |
anoctamin 5 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar HPO |
PMID:23606453 PMID:24022920 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31395899 PMID:32399949 PMID:32403337 PMID:32528171 More...
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ORPHA:206549 |
NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
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ASTN2 |
astrotactin 2 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 |
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NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070
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ATL1 |
atlastin GTPase 1 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
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BVES |
blood vessel epicardial substance |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:25741868 PMID:31119192 |
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NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157
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CAPN3 |
calpain 3 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:11371436 PMID:15221789 PMID:16141003 PMID:18854869 PMID:19226146 PMID:20635405 PMID:25046369 PMID:25741868 PMID:26404900 PMID:26467025 PMID:28492532 More...
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NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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CAV3 |
caveolin 3 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:18509671 PMID:19380584 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25630502 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 More...
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NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
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CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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IAGP |
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HPO |
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OMIM:616052 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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DAG1 |
dystroglycan 1 |
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IAGP |
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HPO |
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ORPHA:280333 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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DPM3 |
dolichyl-phosphate mannosyltransferase subunit 3, regulatory |
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IAGP |
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HPO |
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OMIM:612937 |
NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595
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EMD |
emerin |
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IAGP |
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HPO |
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ORPHA:98863 |
NCBI chr X:154,379,295...154,381,523
Ensembl chr X:154,379,273...154,381,574
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FHL1 |
four and a half LIM domains 1 |
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IAGP |
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HPO |
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ORPHA:98863 |
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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FKRP |
fukutin related protein |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404 More...
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NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:25741868 PMID:36745799 |
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NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
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IAGP |
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HPO |
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OMIM:615424 |
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
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HNRNPDL |
heterogeneous nuclear ribonucleoprotein D like |
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IAGP |
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HPO |
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OMIM:609115 |
NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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OMIM:181350 ORPHA:98853 ORPHA:98855 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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OXTR |
oxytocin receptor |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:18509671 PMID:19380584 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25630502 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 More...
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NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628
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POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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OMIM:617232 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
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NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:206559 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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SGCA |
sarcoglycan alpha |
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IAGP |
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HPO |
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OMIM:608099 |
NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
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SYNE1 |
spectrin repeat containing nuclear envelope protein 1 |
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IAGP |
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HPO |
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ORPHA:98853 |
NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
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SYNE2 |
spectrin repeat containing nuclear envelope protein 2 |
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IAGP |
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HPO |
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ORPHA:98853 |
NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
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TMEM43 |
transmembrane protein 43 |
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IAGP |
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HPO |
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ORPHA:98853 |
NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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TRAPPC11 |
trafficking protein particle complex subunit 11 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar HPO |
PMID:23830518 PMID:24033266 PMID:26322222 PMID:27707803 PMID:28492532 PMID:30105108 More...
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OMIM:615356 ORPHA:369840 ORPHA:369847 |
NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
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TRIM32 |
tripartite motif containing 32 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 |
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NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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TSPAN1 |
tetraspanin 1 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
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NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
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TTN |
titin |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24395473 PMID:24892279 PMID:25589632 PMID:25741868 PMID:26467025 PMID:26516846 PMID:27796757 PMID:27869827 PMID:28295036 PMID:28492532 PMID:29435569 PMID:32246154 PMID:32528171 PMID:32778822 PMID:32964742 PMID:34106991 PMID:34540771 PMID:35653365 More...
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NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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TTN-AS1 |
TTN antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy |
ClinVar |
PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24395473 PMID:24892279 PMID:25589632 PMID:25741868 PMID:26467025 PMID:26516846 PMID:27796757 PMID:27869827 PMID:28295036 PMID:28492532 PMID:29435569 PMID:32246154 PMID:32528171 PMID:32778822 PMID:32964742 PMID:34106991 PMID:34540771 PMID:35653365 More...
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NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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Term paths to the root
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