Term: | Proximal muscle weakness in upper limbs |
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Accession: | HP:0008997
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browse the term
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Definition: | A lack of strength of the proximal muscles of the arms. |
Synonyms: | xref: | UMLS:C1866012 |
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ANO5 |
anoctamin 5 |
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IAGP |
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HPO |
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ORPHA:206549 ORPHA:399096 |
NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
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ANXA11 |
annexin A11 |
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IAGP |
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HPO |
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OMIM:619733 |
NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572
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BIN1 |
bridging integrator 1 |
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IAGP |
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HPO |
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ORPHA:169189 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
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IAGP |
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HPO |
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ORPHA:276435 ORPHA:457050 |
NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
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CPOX |
coproporphyrinogen oxidase |
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IAGP |
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HPO |
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ORPHA:79273 |
NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
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CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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IAGP |
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HPO |
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ORPHA:352479 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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DES |
desmin |
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IAGP |
ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs |
ClinVar |
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32268277 PMID:32403337 More...
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NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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DNM2 |
dynamin 2 |
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IAGP |
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HPO |
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OMIM:160150 ORPHA:169189 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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DYSF |
dysferlin |
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IAGP |
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HPO |
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ORPHA:268 |
NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
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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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GDAP1 |
ganglioside induced differentiation associated protein 1 |
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IAGP |
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HPO |
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OMIM:607706 ORPHA:101097 |
NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
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GIPC1 |
GIPC PDZ domain containing family member 1 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:363623 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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HMBS |
hydroxymethylbilane synthase |
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IAGP |
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HPO |
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ORPHA:79276 |
NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
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JAG2 |
jagged canonical Notch ligand 2 |
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IAGP |
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HPO |
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OMIM:619566 |
NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
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KY |
kyphoscoliosis peptidase |
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IAGP |
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HPO |
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ORPHA:496689 |
NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
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LAMA2 |
laminin subunit alpha 2 |
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IAGP |
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HPO |
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OMIM:618138 |
NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
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LDB3 |
LIM domain binding 3 |
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IAGP |
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HPO |
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ORPHA:98912 |
NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072
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LIPE |
lipase E, hormone sensitive type |
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IAGP |
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HPO |
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ORPHA:435660 |
NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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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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LPIN1 |
lipin 1 |
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IAGP |
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HPO |
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ORPHA:99845 |
NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
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LRP12 |
LDL receptor related protein 12 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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MORC2 |
MORC family CW-type zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:466768 |
NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
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HPO |
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ORPHA:99845 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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IAGP |
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HPO |
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ORPHA:99845 |
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MTMR14 |
myotubularin related protein 14 |
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IAGP |
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HPO |
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OMIM:160150 ORPHA:169189 |
NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
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MYF6 |
myogenic factor 6 |
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IAGP |
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HPO |
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ORPHA:169189 |
NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474
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NEFL |
neurofilament light chain |
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IAGP |
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HPO |
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ORPHA:101085 |
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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NOTCH2NLC |
notch 2 N-terminal like C |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
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OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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IAGP |
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HPO |
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ORPHA:99845 |
NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876
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PPOX |
protoporphyrinogen oxidase |
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IAGP |
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HPO |
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ORPHA:79473 |
NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
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RILPL1 |
Rab interacting lysosomal protein like 1 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
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RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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ORPHA:169189 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SBF2 |
SET binding factor 2 |
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IAGP |
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HPO |
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ORPHA:99956 |
NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877
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SFTPC |
surfactant protein C |
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IAGP |
ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs |
ClinVar |
PMID:25741868 |
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NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SLC12A6 |
solute carrier family 12 member 6 |
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IAGP |
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HPO |
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OMIM:620068 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs |
ClinVar |
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NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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SMPX |
small muscle protein X-linked |
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IAGP |
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HPO |
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OMIM:301075 |
NCBI chr X:21,705,978...21,758,116
Ensembl chr X:21,705,978...21,758,116
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SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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IAGP |
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HPO |
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OMIM:616668 |
NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
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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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TCAP |
titin-cap |
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IAGP |
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HPO |
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OMIM:601954 |
NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
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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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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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OMIM:606071 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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VCP |
valosin containing protein |
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IAGP |
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HPO |
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OMIM:613954 OMIM:616687 ORPHA:435387 |
NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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VWA1 |
von Willebrand factor A domain containing 1 |
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IAGP |
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HPO |
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OMIM:619216 |
NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882
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ADSS1 |
adenylosuccinate synthase 1 |
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IAGP |
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HPO |
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ORPHA:482601 |
NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325
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AGRN |
agrin |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
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AK9 |
adenylate kinase 9 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217
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CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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CHRNB1 |
cholinergic receptor nicotinic beta 1 subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
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CHRND |
cholinergic receptor nicotinic delta subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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CHRNE |
cholinergic receptor nicotinic epsilon subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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COL13A1 |
collagen type XIII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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DOK7 |
docking protein 7 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
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DYSF |
dysferlin |
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IAGP |
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HPO |
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ORPHA:45448 |
NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
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FBXO38 |
F-box protein 38 |
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IAGP |
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HPO |
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OMIM:615575 |
NCBI chr 5:148,383,958...148,442,836
Ensembl chr 5:148,383,935...148,442,836
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JAG1 |
jagged canonical Notch ligand 1 |
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IAGP |
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HPO |
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OMIM:619574 |
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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MFN2 |
mitofusin 2 |
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IAGP |
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HPO |
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ORPHA:99947 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MUSK |
muscle associated receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:86812 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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RAPSN |
receptor associated protein of the synapse |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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Term paths to the root
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