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ONTOLOGY REPORT - ANNOTATIONS


Term:Neuromuscular Manifestations
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Accession:DOID:9000165 term browser browse the term
Definition:Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.
Synonyms:exact_synonym: Muscle Disease Manifestation;   Muscle Disease Manifestations;   Neuromuscular Manifestation;   Neuromuscular Signs and Symptoms
 primary_id: MESH:D020879;   RDO:0005573
For additional species annotation, visit the Alliance of Genome Resources.


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Neuromuscular Manifestations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNAP25 synaptosome associated protein 25 JBrowse link 20 10,218,798 10,307,420 RGD:11554173
G TPI1 triosephosphate isomerase 1 JBrowse link 12 6,866,834 6,870,948 RGD:11554173
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC8 coiled-coil domain containing 8 JBrowse link 19 46,410,329 46,413,564 RGD:13592920
G CUL7 cullin 7 JBrowse link 6 43,037,617 43,053,945 RGD:8554872
RGD:11554173
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 2 219,549,408 219,571,573 RGD:8554872
RGD:13592920
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCPS decapping enzyme, scavenger JBrowse link 11 126,304,060 126,350,005 RGD:8554872
RGD:7240710
G GSEC G-quadruplex forming sequence containing lncRNA JBrowse link 11 126,341,716 126,355,587 RGD:8554872
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARP7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 4 112,636,964 112,657,592 RGD:8554872
RGD:7240710
G MIR302CHG miR-302/367 cluster host gene JBrowse link 4 112,646,720 112,650,051 RGD:8554872
G MIR302D microRNA 302d JBrowse link 4 112,648,004 112,648,071 RGD:8554872
G MIR367 microRNA 367 JBrowse link 4 112,647,874 112,647,941 RGD:8554872
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAF6 TATA-box binding protein associated factor 6 JBrowse link 7 100,107,070 100,127,208 RGD:8554872
RGD:7240710
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 74,421,493 74,533,916 RGD:8554872
RGD:7240710
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A1 collagen type IV alpha 1 chain JBrowse link 13 110,148,963 110,307,157 RGD:8554872
RGD:7240710
G COL4A2 collagen type IV alpha 2 chain JBrowse link 13 110,307,284 110,513,209 RGD:8554872
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 10 76,869,601 77,637,969 RGD:8554872
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MEF2C myocyte enhancer factor 2C JBrowse link 5 88,717,117 88,904,105 RGD:8554872
RGD:7240710
G MEF2C-AS1 MEF2C antisense RNA 1 JBrowse link 5 88,883,330 89,467,581 RGD:8554872
G MEF2C-AS2 MEF2C antisense RNA 2 JBrowse link 5 88,676,218 88,722,831 RGD:8554872
Behr Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8554872
RGD:7240710
G OPA1-AS1 OPA1 antisense RNA 1 JBrowse link 3 193,618,599 193,627,332 RGD:8554872
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,655 RGD:8554872
RGD:7240710
G KCNQ2-AS1 KCNQ2 antisense RNA 1 JBrowse link 20 63,447,024 63,450,898 RGD:8554872
Birk-Barel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNK9 potassium two pore domain channel subfamily K member 9 JBrowse link 8 139,600,838 139,703,135 RGD:8554872
RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRAT carnitine O-acetyltransferase JBrowse link 9 129,094,794 129,110,793 RGD:8554872
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRDN triadin JBrowse link 6 123,216,339 123,637,093 RGD:8554872
RGD:7240710
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,815 8,248,079 RGD:8554872
RGD:11554173
G STN1 STN1 subunit of CST complex JBrowse link 10 103,877,569 103,918,184 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,815 8,248,079 RGD:7240710
RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STN1 STN1 subunit of CST complex JBrowse link 10 103,877,569 103,918,184 RGD:8554872
RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKFY1 ankyrin repeat and FYVE domain containing 1 JBrowse link 17 4,163,818 4,263,979 RGD:13592920
G SACS sacsin molecular chaperone JBrowse link 13 23,328,827 23,433,728 RGD:8554872
RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 13 23,160,308 23,325,165 RGD:8554872
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRX5 glutaredoxin 5 JBrowse link 14 95,535,050 95,544,714 RGD:8554872
RGD:7240710
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABI1 abl interactor 1 JBrowse link 10 26,746,596 26,861,087 RGD:8554872
G APTX aprataxin JBrowse link 9 32,883,872 33,025,120 RGD:8554872
G CIAPIN1 cytokine induced apoptosis inhibitor 1 JBrowse link 16 57,428,169 57,447,528 RGD:8554872
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 4 83,263,824 83,285,134 RGD:8554872
G COQ8A coenzyme Q8A JBrowse link 1 226,939,339 226,987,544 RGD:8554872
G COQ9 coenzyme Q9 JBrowse link 16 57,447,479 57,461,270 RGD:13592920
RGD:8554872
G PDSS1 decaprenyl diphosphate synthase subunit 1 JBrowse link 10 26,697,424 26,747,246 RGD:8554872
G PDSS2 decaprenyl diphosphate synthase subunit 2 JBrowse link 6 107,152,557 107,459,681 RGD:13592920
RGD:8554872
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR599 microRNA 599 JBrowse link 8 99,536,636 99,536,730 RGD:8554872
G MIR875 microRNA 875 JBrowse link 8 99,536,786 99,536,861 RGD:8554872
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 8 99,013,266 99,877,586 RGD:8554872
RGD:11554173
RGD:7240710
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCF1 cardiotrophin like cytokine factor 1 JBrowse link 11 67,364,168 67,374,177 RGD:11554173
G CRLF1 cytokine receptor like factor 1 JBrowse link 19 18,593,237 18,606,799 RGD:11554173
G KLHL7 kelch like family member 7 JBrowse link 7 23,105,734 23,177,914 RGD:11554173
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRLF1 cytokine receptor like factor 1 JBrowse link 19 18,593,237 18,606,799 RGD:7240710
RGD:8554872
G KLHL7 kelch like family member 7 JBrowse link 7 23,105,734 23,177,914 RGD:8554872
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCF1 cardiotrophin like cytokine factor 1 JBrowse link 11 67,364,168 67,374,177 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLHL7 kelch like family member 7 JBrowse link 7 23,105,734 23,177,914 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TSFM Ts translation elongation factor, mitochondrial JBrowse link 12 57,782,745 57,802,856 RGD:8554872
RGD:7240710
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NALCN sodium leak channel, non-selective JBrowse link 13 101,053,774 101,417,206 RGD:8554872
RGD:7240710
G NALCN-AS1 NALCN antisense RNA 1 JBrowse link 13 100,708,325 101,059,286 RGD:8554872
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 12 6,924,459 6,942,321 RGD:7240710
RGD:8554872
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WAC WW domain containing adaptor with coiled-coil JBrowse link 10 28,532,772 28,623,112 RGD:8554872
RGD:7240710
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSX2 GS homeobox 2 JBrowse link 4 54,100,163 54,102,498 RGD:8554872
RGD:7240710
dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 42,925,375 42,958,868 RGD:12879478
RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 63,634,967 63,785,546 RGD:8554872
RGD:7240710
Epilepsy, Benign Neonatal, 1, and/or Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,655 RGD:8554872
episodic ataxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNA1 potassium voltage-gated channel subfamily A member 1 JBrowse link 12 4,909,905 4,918,256 RGD:10047237
RGD:8554872
RGD:7240710
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI2 GLI family zinc finger 2 JBrowse link 2 120,735,865 120,992,653 RGD:11554173
G SHH sonic hedgehog signaling molecule JBrowse link 7 155,799,980 155,812,463 RGD:11554173
Familial Dyskinesia with Facial Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCY5 adenylate cyclase 5 JBrowse link 3 123,282,296 123,448,988 RGD:8554872
RGD:7240710
Fasciculation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 3 165,772,904 165,837,451 RGD:11554173
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6AP2 ATPase H+ transporting accessory protein 2 JBrowse link X 40,580,970 40,606,848 RGD:8554872
G BCOR BCL6 corepressor JBrowse link X 40,051,246 40,177,390 RGD:8554872
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 41,514,934 41,923,554 RGD:11576290
RGD:8554872
RGD:7240710
G CXorf38 chromosome X open reading frame 38 JBrowse link X 40,626,921 40,647,678 RGD:8554872
G DDX3X DEAD-box helicase 3 X-linked JBrowse link X 41,333,308 41,364,472 RGD:8554872
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8554872
RGD:11554173
RGD:7240710
G GPR34 G protein-coupled receptor 34 JBrowse link X 41,686,397 41,697,275 RGD:8554872
G GPR82 G protein-coupled receptor 82 JBrowse link X 41,724,181 41,730,130 RGD:8554872
G MED12 mediator complex subunit 12 JBrowse link X 71,118,596 71,142,450 RGD:12910948
RGD:8554872
RGD:11554173
RGD:7240710
RGD:12910952
G MED14 mediator complex subunit 14 JBrowse link X 40,648,305 40,736,122 RGD:8554872
G MPC1L mitochondrial pyruvate carrier 1 like JBrowse link X 40,623,566 40,624,139 RGD:8554872
G NYX nyctalopin JBrowse link X 41,447,460 41,476,414 RGD:8554872
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 41,085,420 41,236,579 RGD:8554872
fumarase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FH fumarate hydratase JBrowse link 1 241,497,557 241,519,785 RGD:8554872
RGD:7240710
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IARS1 isoleucyl-tRNA synthetase 1 JBrowse link 9 92,210,207 92,293,756 RGD:8554872
RGD:7240710
Hecht Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH8 myosin heavy chain 8 JBrowse link 17 10,390,322 10,421,950 RGD:12914760
RGD:8554872
RGD:7240710
G MYHAS myosin heavy chain gene cluster antisense RNA JBrowse link 17 10,383,132 10,625,540 RGD:8554872
Hemifacial Spasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:14975126
hyperekplexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSD cathepsin D JBrowse link 11 1,752,755 1,763,927 RGD:8554872
G GLRA1 glycine receptor alpha 1 JBrowse link 5 151,822,513 151,924,851 RGD:8554872
RGD:11554173
G GLRB glycine receptor beta JBrowse link 4 157,076,125 157,172,090 RGD:8554872
RGD:11554173
G GPHN gephyrin JBrowse link 14 66,507,407 67,735,831 RGD:11554173
RGD:8554872
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,599,494 20,659,285 RGD:8554872
RGD:11554173
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 5 151,822,513 151,924,851 RGD:7240710
G GPHN gephyrin JBrowse link 14 66,507,407 67,735,831 RGD:13592920
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRB glycine receptor beta JBrowse link 4 157,076,125 157,172,090 RGD:8554872
RGD:7240710
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,599,494 20,659,285 RGD:8554872
RGD:7240710
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATAD1 ATPase family AAA domain containing 1 JBrowse link 10 87,751,512 87,841,359 RGD:8554872
RGD:7240710
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EBF3 EBF transcription factor 3 JBrowse link 10 129,835,233 129,964,274 RGD:8554872
RGD:7240710
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTBP1 C-terminal binding protein 1 JBrowse link 4 1,211,444 1,253,919 RGD:8554872
RGD:7240710
G CTBP1-AS CTBP1 antisense RNA JBrowse link 4 1,210,120 1,218,591 RGD:8554872
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NALCN sodium leak channel, non-selective JBrowse link 13 101,053,774 101,417,206 RGD:12911215
RGD:8554872
RGD:7240710
RGD:12914762
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UNC80 unc-80 homolog, NALCN channel complex subunit JBrowse link 2 209,771,832 209,999,300 RGD:11528248
RGD:8554872
RGD:7240710
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBCK TBC1 domain containing kinase JBrowse link 4 106,041,599 106,316,683 RGD:8554872
RGD:7240710
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAMKMT calmodulin-lysine N-methyltransferase JBrowse link 2 44,361,714 44,772,592 RGD:11554173
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B JBrowse link 2 44,168,803 44,247,330 RGD:11554173
G PREPL prolyl endopeptidase like JBrowse link 2 44,317,607 44,361,862 RGD:11554173
G SLC3A1 solute carrier family 3 member 1 JBrowse link 2 44,275,464 44,321,494 RGD:11554173
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC174 coiled-coil domain containing 174 JBrowse link 3 14,651,746 14,672,659 RGD:8554872
RGD:7240710
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OFD1 OFD1 centriole and centriolar satellite protein JBrowse link X 13,734,713 13,773,978 RGD:11535963
RGD:8554872
RGD:7240710
RGD:11535965
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHI1 Abelson helper integration site 1 JBrowse link 6 135,283,532 135,497,771 RGD:1598905
RGD:8554872
RGD:7240710
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:7246903
RGD:8554872
RGD:7240710
RGD:11537352
lethal congenital contracture syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma JBrowse link 19 3,630,181 3,700,486 RGD:8554872
RGD:7240710
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,785,723 11,806,103 RGD:8554872
RGD:7240710
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZC4H2 zinc finger C4H2-type containing JBrowse link X 64,915,802 65,034,741 RGD:11554173
RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8554872
RGD:7240710
G KIAA1257 KIAA1257 JBrowse link 3 128,909,873 129,032,431 RGD:8554872
Miyoshi muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 11 22,192,485 22,283,367 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
RGD:11554173
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
RGD:7240710
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 11 22,192,485 22,283,367 RGD:11570558
RGD:8554872
RGD:7240710
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8554872
RGD:7240710
G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing JBrowse link 18 62,187,255 62,310,249 RGD:8554872
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 62,325,287 62,391,288 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGA phosphatidylinositol glycan anchor biosynthesis class A JBrowse link X 15,319,451 15,335,554 RGD:8554872
RGD:7240710
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGT phosphatidylinositol glycan anchor biosynthesis class T JBrowse link 20 45,416,141 45,426,241 RGD:8554872
RGD:7240710
Muscle Cramp term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 JBrowse link 20 54,145,731 54,174,032 RGD:8554872
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8554872
Muscle Hypertonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 20 3,068,871 3,072,517 RGD:11554173
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 17 75,516,528 75,524,735 RGD:8554872
Muscle Hypotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABAT 4-aminobutyrate aminotransferase JBrowse link 16 8,674,617 8,784,575 RGD:11554173
G ACOT1 acyl-CoA thioesterase 1 JBrowse link 14 73,493,021 73,543,799 RGD:8554872
G AHDC1 AT-hook DNA binding motif containing 1 JBrowse link 1 27,534,245 27,604,178 RGD:8554872
G CALHM4 calcium homeostasis modulator family member 4 JBrowse link 6 116,529,021 116,561,127 RGD:8554872
G CALHM5 calcium homeostasis modulator family member 5 JBrowse link 6 116,511,639 116,524,788 RGD:8554872
G CALHM6 calcium homeostasis modulator family member 6 JBrowse link 6 116,461,375 116,463,782 RGD:8554872
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 40,470,961 40,473,158 RGD:11554173
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 116,118,909 116,219,937 RGD:8554872
G DCBLD1 discoidin, CUB and LCCL domain containing 1 JBrowse link 6 117,480,351 117,569,858 RGD:8554872
G DES desmin JBrowse link 2 219,418,377 219,426,734 RGD:8554872
G DHCR7 7-dehydrocholesterol reductase JBrowse link 11 71,434,411 71,448,431 RGD:734884
G DSE dermatan sulfate epimerase JBrowse link 6 116,254,171 116,444,861 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G EBF3 EBF transcription factor 3 JBrowse link 10 129,835,233 129,964,274 RGD:8554872
G EXOSC3 exosome component 3 JBrowse link 9 37,779,714 37,785,092 RGD:8554872
G FAM162B family with sequence similarity 162 member B JBrowse link 6 116,752,197 116,765,719 RGD:8554872
G FRK fyn related Src family tyrosine kinase JBrowse link 6 115,931,149 116,100,739 RGD:8554872
G GNB1 G protein subunit beta 1 JBrowse link 1 1,785,285 1,891,117 RGD:8554872
G GOPC golgi associated PDZ and coiled-coil motif containing JBrowse link 6 117,560,269 117,602,520 RGD:8554872
G GPRC6A G protein-coupled receptor class C group 6 member A JBrowse link 6 116,788,512 116,831,128 RGD:8554872
G HDAC2 histone deacetylase 2 JBrowse link 6 113,933,028 113,971,148 RGD:8554872
G HEATR4 HEAT repeat containing 4 JBrowse link 14 73,478,484 73,558,947 RGD:8554872
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 15 28,111,037 28,322,173 RGD:8554872
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 JBrowse link 6 114,055,586 114,342,395 RGD:8554872
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 RGD:8554872
G KANSL1 KAT8 regulatory NSL complex subunit 1 JBrowse link 17 46,027,335 46,225,374 RGD:11554173
G KIF4A kinesin family member 4A JBrowse link X 70,290,104 70,420,886 RGD:8554872
G KPNA5 karyopherin subunit alpha 5 JBrowse link 6 116,677,643 116,741,867 RGD:8554872
G LAMA2 laminin subunit alpha 2 JBrowse link 6 128,883,138 129,516,566 RGD:8554872
G LAMA4 laminin subunit alpha 4 JBrowse link 6 112,107,931 112,254,722 RGD:8554872
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 4 1,811,479 1,856,156 RGD:11554173
G MAGED2 MAGE family member D2 JBrowse link X 54,807,745 54,816,015 RGD:8554872
G MARCKS myristoylated alanine rich protein kinase C substrate JBrowse link 6 113,857,345 113,863,475 RGD:8554872
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:11554173
G MLLT1 MLLT1 super elongation complex subunit JBrowse link 19 6,210,381 6,279,975 RGD:8554872
G NT5DC1 5'-nucleotidase domain containing 1 JBrowse link 6 116,100,833 116,249,497 RGD:8554872
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 6 117,675,469 117,710,727 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8554872
G PURA purine rich element binding protein A JBrowse link 5 140,114,109 140,125,619 RGD:8554872
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 JBrowse link 14 35,538,356 35,809,295 RGD:8554872
G RFPL4B ret finger protein like 4B JBrowse link 6 112,347,330 112,351,294 RGD:8554872
G RFX6 regulatory factor X6 JBrowse link 6 116,877,218 116,932,163 RGD:8554872
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase JBrowse link 6 117,287,918 117,426,065 RGD:8554872
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 20,149,911 20,267,514 RGD:8554872
G RPS6KC1 ribosomal protein S6 kinase C1 JBrowse link 1 213,051,233 213,378,753 RGD:8554872
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 102,204,501 102,238,961 RGD:11554173
G RSPH4A radial spoke head component 4A JBrowse link 6 116,598,184 116,633,051 RGD:8554872
G RWDD1 RWD domain containing 1 JBrowse link 6 116,571,504 116,597,675 RGD:8554872
G RYR1 ryanodine receptor 1 JBrowse link 19 38,433,691 38,587,564 RGD:8554872
G SOX5 SRY-box transcription factor 5 JBrowse link 12 23,529,499 24,562,701 RGD:8554872
G STXBP1 syntaxin binding protein 1 JBrowse link 9 127,612,277 127,692,936 RGD:8554872
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 6 33,418,294 33,453,689 RGD:8554872
G TBR1 T-box brain transcription factor 1 JBrowse link 2 161,416,297 161,425,870 RGD:8554872
G TCF20 transcription factor 20 JBrowse link 22 42,160,013 42,283,927 RGD:8554872
G TMEM47 transmembrane protein 47 JBrowse link X 34,627,075 34,657,285 RGD:8554872
G TMEM67 transmembrane protein 67 JBrowse link 8 93,754,844 93,832,653 RGD:8554872
G TRAPPC3L trafficking protein particle complex 3 like JBrowse link 6 116,494,989 116,545,684 RGD:8554872
G TSPYL1 TSPY like 1 JBrowse link 6 116,274,859 116,280,117 RGD:8554872
G TSPYL4 TSPY like 4 JBrowse link 6 116,249,964 116,254,075 RGD:8554872
G USP7 ubiquitin specific peptidase 7 JBrowse link 16 8,892,094 8,963,912 RGD:8554872
G VARS1 valyl-tRNA synthetase 1 JBrowse link 6 31,777,518 31,795,928 RGD:8554872
G VGLL2 vestigial like family member 2 JBrowse link 6 117,265,558 117,273,565 RGD:8554872
G ZUP1 zinc finger containing ubiquitin peptidase 1 JBrowse link 6 116,635,618 116,668,810 RGD:8554872
Muscle Rigidity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHAT choline O-acetyltransferase JBrowse link 10 49,609,095 49,665,104 RGD:8554872
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 JBrowse link 22 42,126,499 42,130,810 RGD:11554173
G GBA glucosylceramidase beta JBrowse link 1 155,234,452 155,244,627 RGD:8554872
G GCH1 GTP cyclohydrolase 1 JBrowse link 14 54,842,005 54,902,826 RGD:11554173
RGD:8554872
G NPY neuropeptide Y JBrowse link 7 24,284,190 24,291,862 RGD:11554173
G NTS neurotensin JBrowse link 12 85,874,295 85,882,992 RGD:11554173
G PDE8B phosphodiesterase 8B JBrowse link 5 77,180,252 77,429,807 RGD:11554173
G TGM6 transglutaminase 6 JBrowse link 20 2,380,901 2,432,753 RGD:8554872
Muscle Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRA2A adrenoceptor alpha 2A JBrowse link 10 111,077,029 111,080,907 RGD:6480106
G CNR1 cannabinoid receptor 1 JBrowse link 6 88,139,864 88,167,349 RGD:11554173
G CREBBP CREB binding protein JBrowse link 16 3,725,054 3,880,727 RGD:8554872
G KIF7 kinesin family member 7 JBrowse link 15 89,627,977 89,663,086 RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
G REEP1 receptor accessory protein 1 JBrowse link 2 86,213,993 86,338,083 RGD:8554872
G SPAST spastin JBrowse link 2 32,063,551 32,157,637 RGD:8554872
Muscle Weakness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACOX1 acyl-CoA oxidase 1 JBrowse link 17 75,941,507 75,979,199 RGD:8554872
G AMPD1 adenosine monophosphate deaminase 1 JBrowse link 1 114,673,098 114,695,618 RGD:11554173
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 13,206,442 13,506,479 RGD:8554872
G CAMKMT calmodulin-lysine N-methyltransferase JBrowse link 2 44,361,714 44,772,592 RGD:11554173
G CAPN3 calpain 3 JBrowse link 15 42,359,500 42,412,317 RGD:8554872
G CFL2 cofilin 2 JBrowse link 14 34,709,113 34,714,823 RGD:8554872
G CHAT choline O-acetyltransferase JBrowse link 10 49,609,095 49,665,104 RGD:8554872
G CHRND cholinergic receptor nicotinic delta subunit JBrowse link 2 232,526,160 232,537,907 RGD:8554872
G COL6A2 collagen type VI alpha 2 chain JBrowse link 21 46,098,071 46,132,849 RGD:8554872
G CSF2 colony stimulating factor 2 JBrowse link 5 132,073,789 132,076,170 RGD:11554173
G CSF3 colony stimulating factor 3 JBrowse link 17 40,015,440 40,017,813 RGD:11554173
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8554872
RGD:11554173
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 7 157,337,004 157,417,439 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:8554872
G FLNC filamin C JBrowse link 7 128,830,406 128,859,274 RGD:8554872
G GCH1 GTP cyclohydrolase 1 JBrowse link 14 54,842,005 54,902,826 RGD:8554872
G GYG1 glycogenin 1 JBrowse link 3 148,991,408 149,027,669 RGD:11554173
G MYOT myotilin JBrowse link 5 137,867,282 137,887,851 RGD:11554173
RGD:8554872
G NEB nebulin JBrowse link 2 151,485,334 151,734,487 RGD:8554872
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:11554173
G RIF1 replication timing regulatory factor 1 JBrowse link 2 151,409,902 151,534,200 RGD:8554872
G RYR1 ryanodine receptor 1 JBrowse link 19 38,433,691 38,587,564 RGD:8554872
G SCN4A sodium voltage-gated channel alpha subunit 4 JBrowse link 17 63,938,554 63,972,918 RGD:8554872
G SGCB sarcoglycan beta JBrowse link 4 52,020,695 52,038,319 RGD:8554872
G SLC12A3 solute carrier family 12 member 3 JBrowse link 16 56,865,207 56,915,850 RGD:8554872
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 42,925,375 42,958,868 RGD:8554872
G SYT2 synaptotagmin 2 JBrowse link 1 202,590,596 202,710,454 RGD:8554872
G TBCD tubulin folding cofactor D JBrowse link 17 82,752,048 82,945,914 RGD:11554173
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,771 6,342,076 RGD:5130943
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:11554173
G WASHC5 WASH complex subunit 5 JBrowse link 8 125,024,260 125,091,819 RGD:8554872
muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT1 AKT serine/threonine kinase 1 JBrowse link 14 104,769,349 104,795,748 RGD:11554173
G AMPD1 adenosine monophosphate deaminase 1 JBrowse link 1 114,673,098 114,695,618 RGD:11554173
G APAF1 apoptotic peptidase activating factor 1 JBrowse link 12 98,645,141 98,735,433 RGD:2325745
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 15 40,161,009 40,221,136 RGD:10059412
G CFL1 cofilin 1 JBrowse link 11 65,854,673 65,858,180 RGD:11570530
G CHUK component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 10 100,188,298 100,229,610 RGD:7495773
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 6 139,371,807 139,374,648 RGD:11554173
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 94,394,895 94,431,227 RGD:7257536
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:8554872
G CRHR2 corticotropin releasing hormone receptor 2 JBrowse link 7 30,649,406 30,700,103 RGD:5130936
G CTNNB1 catenin beta 1 JBrowse link 3 41,199,422 41,240,445 RGD:11554173
G CTSL cathepsin L JBrowse link 9 87,725,437 87,731,469 RGD:2315576
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:625642
G ENDOG endonuclease G JBrowse link 9 128,818,402 128,822,676 RGD:9685359
G FBXO32 F-box protein 32 JBrowse link 8 123,497,887 123,541,206 RGD:11554173
G GH1 growth hormone 1 JBrowse link 17 63,917,203 63,918,839 RGD:11554173
G GHR growth hormone receptor JBrowse link 5 42,423,439 42,721,878 RGD:2307376
G GSK3B glycogen synthase kinase 3 beta JBrowse link 3 119,821,321 120,095,823 RGD:11554173
G HSF1 heat shock transcription factor 1 JBrowse link 8 144,291,603 144,314,720 RGD:10402941
G HSP90AB1 heat shock protein 90 alpha family class B member 1 JBrowse link 6 44,246,166 44,253,888 RGD:5686383
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:11554173
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 8 42,270,727 42,332,653 RGD:7495773
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 7 150,944,956 150,978,321 RGD:11554173
G MSTN myostatin JBrowse link 2 190,055,700 190,062,729 RGD:2303594
RGD:2303596
G MT1X metallothionein 1X JBrowse link 16 56,682,470 56,684,196 RGD:11554173
G MTMR4 myotubularin related protein 4 JBrowse link 17 58,489,533 58,518,109 RGD:7242174
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,106,535 11,273,497 RGD:10041027
G NEDD4 NEDD4 E3 ubiquitin protein ligase JBrowse link 15 55,826,917 55,993,612 RGD:7242174
G NR3C1 nuclear receptor subfamily 3 group C member 1 JBrowse link 5 143,277,931 143,435,512 RGD:4892311
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 68,413,623 68,551,316 RGD:11554173
G RELB RELB proto-oncogene, NF-kB subunit JBrowse link 19 45,001,449 45,038,194 RGD:7777164
G RPS6KB1 ribosomal protein S6 kinase B1 JBrowse link 17 59,893,046 59,950,574 RGD:1642984
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,104 101,139,247 RGD:4144861
G SGCA sarcoglycan alpha JBrowse link 17 50,165,517 50,175,928 RGD:625642
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:11554173
G TFRC transferrin receptor JBrowse link 3 196,018,694 196,082,123 RGD:2292027
G TGIF1 TGFB induced factor homeobox 1 JBrowse link 18 3,411,927 3,459,980 RGD:1641826
G TIMM23 translocase of inner mitochondrial membrane 23 JBrowse link 10 45,972,453 46,003,742 RGD:13463487
G TNF tumor necrosis factor JBrowse link 6 31,575,565 31,578,336 RGD:11554173
G TOMM20 translocase of outer mitochondrial membrane 20 JBrowse link 1 235,109,341 235,128,837 RGD:13463487
G TRIM63 tripartite motif containing 63 JBrowse link 1 26,051,304 26,067,634 RGD:633893
RGD:11554173
G TTPA alpha tocopherol transfer protein JBrowse link 8 63,059,488 63,086,523 RGD:11554173
G UCP2 uncoupling protein 2 JBrowse link 11 73,974,671 73,982,872 RGD:10045654
G UCP3 uncoupling protein 3 JBrowse link 11 74,000,277 74,009,237 RGD:10045654
G WWTR1 WW domain containing transcription regulator 1 JBrowse link 3 149,517,229 149,724,788 RGD:11554173
myofibrillar myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP63 centrosomal protein 63 JBrowse link 3 134,485,724 134,783,169 RGD:8554872
G EPHB1 EPH receptor B1 JBrowse link 3 134,595,264 135,260,467 RGD:8554872
G KY kyphoscoliosis peptidase JBrowse link 3 134,599,923 134,656,053 RGD:8554872
RGD:7240710
Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNA1 potassium voltage-gated channel subfamily A member 1 JBrowse link 12 4,909,905 4,918,256 RGD:10047237
RGD:8554872
myopathy with extrapyramidal signs term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MICU1 mitochondrial calcium uptake 1 JBrowse link 10 72,367,326 72,626,191 RGD:8554872
RGD:7240710
Myotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN1 chloride voltage-gated channel 1 JBrowse link 7 143,316,111 143,352,083 RGD:8554872
G DMPK DM1 protein kinase JBrowse link 19 45,769,709 45,782,490 RGD:11554173
G MBNL1 muscleblind like splicing regulator 1 JBrowse link 3 152,243,656 152,465,780 RGD:11554173
G RYR1 ryanodine receptor 1 JBrowse link 19 38,433,691 38,587,564 RGD:8554872
G SCN4A sodium voltage-gated channel alpha subunit 4 JBrowse link 17 63,938,554 63,972,918 RGD:8554872
RGD:11554173
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INTS8 integrator complex subunit 8 JBrowse link 8 94,823,287 94,894,664 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR2A RNA polymerase II subunit A JBrowse link 17 7,484,366 7,514,616 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2 196,194,072 196,593,692 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK3 dedicator of cytokinesis 3 JBrowse link 3 50,674,927 51,384,198 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRUNE1 prune exopolyphosphatase 1 JBrowse link 1 151,008,405 151,035,713 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 JBrowse link 1 161,132,703 161,158,856 RGD:8554872
RGD:7240710
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRRK1 leucine rich repeat kinase 1 JBrowse link 15 100,919,017 101,078,257 RGD:8554872
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 JBrowse link 20 408,050 432,139 RGD:8554872
RGD:7240710
POLYGLUCOSAN BODY MYOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GYG1 glycogenin 1 JBrowse link 3 148,991,408 149,027,669 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 9 32,883,872 33,025,120 RGD:8554872
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 4 83,263,824 83,285,134 RGD:8554872
RGD:7240710
G COQ8A coenzyme Q8A JBrowse link 1 226,939,339 226,987,544 RGD:11554173
RGD:8554872
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDSS1 decaprenyl diphosphate synthase subunit 1 JBrowse link 10 26,697,424 26,747,246 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDSS2 decaprenyl diphosphate synthase subunit 2 JBrowse link 6 107,152,557 107,459,681 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDC42BPA CDC42 binding protein kinase alpha JBrowse link 1 226,989,858 227,318,502 RGD:8554872
G COQ8A coenzyme Q8A JBrowse link 1 226,939,339 226,987,544 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ9 coenzyme Q9 JBrowse link 16 57,447,479 57,461,270 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ6 coenzyme Q6, monooxygenase JBrowse link 14 73,949,934 73,963,670 RGD:8554872
RGD:7240710
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) JBrowse link 14 73,957,916 74,019,326 RGD:8554872
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C9orf16 chromosome 9 open reading frame 16 JBrowse link 9 128,159,425 128,163,926 RGD:8554872
G CERCAM cerebral endothelial cell adhesion molecule JBrowse link 9 128,405,994 128,437,351 RGD:8554872
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 9 128,166,065 128,204,222 RGD:8554872
G COQ4 coenzyme Q4 JBrowse link 9 128,322,486 128,334,072 RGD:8554872
RGD:7240710
G DNM1 dynamin 1 JBrowse link 9 128,203,379 128,255,244 RGD:8554872
G GLE1 GLE1 RNA export mediator JBrowse link 9 128,504,692 128,542,301 RGD:8554872
G GOLGA2 golgin A2 JBrowse link 9 128,255,829 128,276,000 RGD:8554872
G LCN2 lipocalin 2 JBrowse link 9 128,149,453 128,153,453 RGD:8554872
G MIR199B microRNA 199b JBrowse link 9 128,244,721 128,244,830 RGD:8554872
G MIR219A2 microRNA 219a-2 JBrowse link 9 128,392,618 128,392,714 RGD:8554872
G MIR219B microRNA 219b JBrowse link 9 128,392,621 128,392,708 RGD:8554872
G MIR3154 microRNA 3154 JBrowse link 9 128,244,947 128,245,030 RGD:8554872
G ODF2 outer dense fiber of sperm tails 2 JBrowse link 9 128,455,155 128,501,292 RGD:8554872
G SLC27A4 solute carrier family 27 member 4 JBrowse link 9 128,340,516 128,361,470 RGD:8554872
G SWI5 SWI5 homologous recombination repair protein JBrowse link 9 128,275,364 128,288,990 RGD:8554872
G TRR-TCT3-1 tRNA-Arg (anticodon TCT) 3-1 JBrowse link 9 128,340,076 128,340,166 RGD:8554872
G TRUB2 TruB pseudouridine synthase family member 2 JBrowse link 9 128,305,159 128,322,447 RGD:8554872
G URM1 ubiquitin related modifier 1 JBrowse link 9 128,371,319 128,392,016 RGD:8554872
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ7 coenzyme Q7, hydroxylase JBrowse link 16 19,067,595 19,080,095 RGD:8554872
RGD:7240710
Primrose Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 114,314,500 115,147,288 RGD:8554872
RGD:11554173
RGD:7240710
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBCE tubulin folding cofactor E JBrowse link 1 235,367,360 235,452,443 RGD:8554872
RGD:7240710
Sarcopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 130,129,362 130,165,887 RGD:2325745
G AK1 adenylate kinase 1 JBrowse link 9 127,866,480 127,885,542 RGD:5147990
G AR androgen receptor JBrowse link X 67,544,021 67,730,619 RGD:10043306
RGD:10043311
G ATP5F1A ATP synthase F1 subunit alpha JBrowse link 18 46,080,248 46,104,233 RGD:13703063
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 48,954,825 48,961,798 RGD:2325745
G BCL2 BCL2 apoptosis regulator JBrowse link 18 63,123,346 63,320,280 RGD:2325745
G CAV1 caveolin 1 JBrowse link 7 116,525,009 116,561,185 RGD:10045568
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 36,676,250 36,687,339 RGD:10043356
G CEBPA CCAAT enhancer binding protein alpha JBrowse link 19 33,299,934 33,302,564 RGD:10401269
G CEBPB CCAAT enhancer binding protein beta JBrowse link 20 50,190,583 50,192,690 RGD:10401226
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 3 184,135,023 184,145,311 RGD:10395315
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha JBrowse link 14 67,360,328 67,386,516 RGD:10395315
G FIS1 fission, mitochondrial 1 JBrowse link 7 101,239,472 101,245,081 RGD:12738219
G FOXO4 forkhead box O4 JBrowse link X 71,095,851 71,103,534 RGD:10402356
G HFE homeostatic iron regulator JBrowse link 6 26,087,281 26,098,343 RGD:14746966
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:10045859
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:10045859
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:12738219
G NFKBIA NFKB inhibitor alpha JBrowse link 14 35,401,510 35,404,754 RGD:10413861
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:12738219
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,792,021 24,472,905 RGD:10053649
G SUPV3L1 Suv3 like RNA helicase JBrowse link 10 69,180,234 69,209,093 RGD:11554173
Scalp Ear Nipple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCTD1 potassium channel tetramerization domain containing 1 JBrowse link 18 26,454,910 26,657,473 RGD:8554872
RGD:7240710
SNIJDERS BLOK-FISHER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POU3F3 POU class 3 homeobox 3 JBrowse link 2 104,854,115 104,858,574 RGD:7240710
RGD:8554872
Spasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GCG glucagon JBrowse link 2 162,142,882 162,152,247 RGD:11554173
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 20 3,068,871 3,072,517 RGD:11554173
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 12,328,944 12,377,309 RGD:11532672
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 4,988,130 5,006,093 RGD:8554872
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 10 76,869,601 77,637,969 RGD:8554872
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 12 6,451,656 6,472,006 RGD:8554872
G VAMP1 vesicle associated membrane protein 1 JBrowse link 12 6,462,237 6,470,677 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 4,988,130 5,006,093 RGD:8554872
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8554872
RGD:7240710
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,705,369 197,708,395 RGD:8554872
RGD:7240710
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTPAP mitochondrial poly(A) polymerase JBrowse link 10 30,309,801 30,349,338 RGD:8554872
RGD:7240710
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 12,328,944 12,377,309 RGD:8554872
RGD:7240710
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX6-2 NK6 homeobox 2 JBrowse link 10 132,782,229 132,786,147 RGD:7240710
RGD:8554872
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHP1 calcineurin like EF-hand protein 1 JBrowse link 15 41,231,156 41,281,887 RGD:7240710
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:8554872
RGD:7240710
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 53,532,096 53,686,723 RGD:8554872
RGD:7240710
Tetany term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP5 A-kinase anchoring protein 5 JBrowse link 14 64,465,499 64,474,503 RGD:2313247
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 10 102,918,293 103,090,222 RGD:11554173
Three M Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CUL7 cullin 7 JBrowse link 6 43,037,617 43,053,945 RGD:8554872
RGD:7240710
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 2 219,549,408 219,571,573 RGD:8554872
Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 2 219,549,408 219,571,573 RGD:8554872
RGD:7240710
Three M Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC8 coiled-coil domain containing 8 JBrowse link 19 46,410,329 46,413,564 RGD:8554872
RGD:7240710
Trismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 3 165,772,904 165,837,451 RGD:11554173
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16450
    Pathological Conditions, Signs and Symptoms 8494
      Signs and Symptoms 5127
        Neurologic Manifestations 3960
          Neuromuscular Manifestations 332
            Fasciculation + 2
            Muscle Cramp + 4
            Muscle Hypertonia + 49
            Muscle Hypotonia + 127
            Muscle Weakness + 69
            Myokymia + 4
            Myotonia + 5
            Spasm + 11
            Tetany 2
            muscular atrophy + 78
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.