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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 17 19,096,115 19,227,580 RGD:9068941
G TPI1 triosephosphate isomerase 1 JBrowse link 5 63,839,473 63,842,853 RGD:9068941
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC8 coiled-coil domain containing 8 JBrowse link 6 52,474,508 52,478,257 RGD:9068941
G CUL7 cullin 7 JBrowse link 7 38,097,848 38,116,041 RGD:9068941
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 15 121,560,009 121,581,314 RGD:9068941
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCPS decapping enzyme, scavenger JBrowse link 9 53,400,750 53,437,161 RGD:7240710
RGD:9068941
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARP7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 8 110,069,565 110,089,789 RGD:7240710
RGD:9068941
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAF6 TATA-box binding protein associated factor 6 JBrowse link 3 8,017,675 8,026,982 RGD:7240710
RGD:9068941
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 59,748,685 59,861,018 RGD:7240710
RGD:9068941
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 11 76,858,332 76,997,409 RGD:7240710
RGD:9068941
G COL4A2 collagen type IV alpha 2 chain JBrowse link 11 76,996,885 77,161,617 RGD:9068941
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 14 79,345,382 80,106,337 RGD:9068941
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MEF2C myocyte enhancer factor 2C JBrowse link 2 96,122,407 96,296,927 RGD:7240710
RGD:9068941
Behr Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:7240710
RGD:9068941
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 17 62,459,277 62,506,403 RGD:7240710
RGD:9068941
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 4 3,562,086 3,643,248 RGD:7240710
RGD:9068941
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRAT carnitine O-acetyltransferase JBrowse link 1 269,387,430 269,401,334 RGD:9068941
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRDN triadin JBrowse link 1 39,180,544 39,567,245 RGD:7240710
RGD:9068941
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 12 53,427,807 53,454,149 RGD:9068941
G STN1 STN1 subunit of CST complex JBrowse link 14 114,808,217 114,851,130 RGD:9068941
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 12 53,427,807 53,454,149 RGD:7240710
RGD:9068941
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 14 114,808,217 114,851,130 RGD:7240710
RGD:9068941
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 12 50,167,959 50,251,861 RGD:9068941
G SACS sacsin molecular chaperone JBrowse link 11 2,382,406 2,455,756 RGD:7240710
RGD:9068941
G SGCG sarcoglycan gamma JBrowse link 11 2,310,280 2,380,054 RGD:9068941
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRX5 glutaredoxin 5 JBrowse link 7 116,787,346 116,797,477 RGD:7240710
RGD:9068941
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABI1 abl interactor 1 JBrowse link 10 48,939,407 49,069,269 RGD:9068941
G APTX aprataxin JBrowse link 10 33,470,089 33,495,584 RGD:9068941
G CIAPIN1 cytokine induced apoptosis inhibitor 1 JBrowse link 6 19,356,065 19,373,085 RGD:9068941
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 8 135,130,486 135,150,428 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 10 14,597,237 14,643,394 RGD:9068941
G COQ9 coenzyme Q9 JBrowse link 6 19,373,052 19,390,738 RGD:9068941
G PDSS1 decaprenyl diphosphate synthase subunit 1 JBrowse link 10 49,069,258 49,120,393 RGD:9068941
G PDSS2 decaprenyl diphosphate synthase subunit 2 JBrowse link 1 73,234,950 73,510,533 RGD:9068941
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 4 37,085,929 37,821,159 RGD:7240710
RGD:9068941
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCF1 cardiotrophin like cytokine factor 1 JBrowse link 2 5,142,315 5,152,750 RGD:9068941
G CRLF1 cytokine receptor like factor 1 JBrowse link 2 59,222,551 59,233,723 RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:9068941
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRLF1 cytokine receptor like factor 1 JBrowse link 2 59,222,551 59,233,723 RGD:7240710
RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:9068941
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCF1 cardiotrophin like cytokine factor 1 JBrowse link 2 5,142,315 5,152,750 RGD:7240710
RGD:9068941
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TSFM Ts translation elongation factor, mitochondrial JBrowse link 5 23,073,087 23,087,029 RGD:7240710
RGD:9068941
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 11 69,710,355 70,023,020 RGD:7240710
RGD:9068941
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 5 63,782,159 63,795,648 RGD:7240710
RGD:9068941
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 39,932,562 40,024,114 RGD:7240710
RGD:9068941
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSX2 GS homeobox 2 JBrowse link 8 40,880,093 40,883,928 RGD:9068941
RGD:7240710
dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:7240710
RGD:9068941
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 50,159,912 50,578,020 RGD:7240710
RGD:9068941
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 17 62,459,277 62,506,403 RGD:9068941
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 5 65,556,837 65,565,880 RGD:7240710
RGD:9068941
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI2 GLI family zinc finger 2 JBrowse link 15 30,312,528 30,580,272 RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 18 2,546,202 2,555,484 RGD:9068941
Familial Dyskinesia with Facial Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCY5 adenylate cyclase 5 JBrowse link 13 136,965,746 137,133,795 RGD:7240710
RGD:9068941
Fasciculation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 13 104,946,732 105,007,568 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:9068941
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6AP2 ATPase H+ transporting accessory protein 2 JBrowse link X 36,271,154 36,300,240 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 35,768,013 35,891,013 RGD:9068941
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 37,166,973 37,535,723 RGD:7240710
RGD:9068941
G CXHXorf38 chromosome X CXorf38 homolog JBrowse link X 36,330,684 36,351,903 RGD:9068941
G DDX3X DEAD-box helicase 3 X-linked JBrowse link X 36,988,031 37,005,496 RGD:9068941
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:7240710
RGD:9068941
G GPR34 G protein-coupled receptor 34 JBrowse link X 37,306,490 37,313,626 RGD:9068941
G GPR82 G protein-coupled receptor 82 JBrowse link X 37,328,672 37,334,144 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 57,150,884 57,174,367 RGD:7240710
RGD:9068941
G MED14 mediator complex subunit 14 JBrowse link X 36,354,057 36,424,837 RGD:9068941
G MPC1L mitochondrial pyruvate carrier 1-like JBrowse link X 36,325,447 36,331,779 RGD:9068941
G NYX nyctalopin JBrowse link X 37,080,197 37,105,513 RGD:9068941
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 36,736,049 36,888,702 RGD:9068941
fumarase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FH fumarate hydratase JBrowse link 10 12,404,143 12,431,843 RGD:7240710
RGD:9068941
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 3 41,945,846 42,022,610 RGD:7240710
RGD:9068941
Hecht Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC110255887 myosin-8 JBrowse link 12 55,135,651 55,166,983 RGD:7240710
RGD:9068941
Hemifacial Spasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
hyperekplexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSD cathepsin D JBrowse link 2 1,188,548 1,197,642 RGD:9068941
G GLRA1 glycine receptor alpha 1 JBrowse link 16 71,140,751 71,236,867 RGD:9068941
G GLRB glycine receptor beta JBrowse link 8 45,912,869 46,034,455 RGD:9068941
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 2 38,767,447 38,826,891 RGD:9068941
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 16 71,140,751 71,236,867 RGD:7240710
RGD:9068941
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRB glycine receptor beta JBrowse link 8 45,912,869 46,034,455 RGD:7240710
RGD:9068941
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC6A5 solute carrier family 6 member 5 JBrowse link 2 38,767,447 38,826,891 RGD:7240710
RGD:9068941
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATAD1 ATPase family AAA domain containing 1 JBrowse link 14 99,802,939 99,885,562 RGD:7240710
RGD:9068941
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EBF3 EBF transcription factor 3 JBrowse link 14 138,819,846 138,935,504 RGD:7240710
RGD:9068941
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 8 475,164 496,510 RGD:7240710
RGD:9068941
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 11 69,710,355 70,023,020 RGD:7240710
RGD:9068941
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 15 112,463,832 112,717,510 RGD:7240710
RGD:9068941
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 8 115,476,776 115,703,011 RGD:7240710
RGD:9068941
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAMKMT calmodulin-lysine N-methyltransferase JBrowse link 3 95,688,400 96,092,028 RGD:9068941
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B JBrowse link 3 96,237,660 96,317,278 RGD:9068941
G PREPL prolyl endopeptidase like JBrowse link 3 96,092,314 96,159,533 RGD:9068941
G SLC3A1 solute carrier family 3 member 1 JBrowse link 3 96,157,387 96,201,057 RGD:9068941
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC174 coiled-coil domain containing 174 JBrowse link 13 69,898,803 69,918,896 RGD:7240710
RGD:9068941
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OFD1 OFD1 centriole and centriolar satellite protein JBrowse link X 10,361,403 10,415,502 RGD:7240710
RGD:9068941
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHI1 Abelson helper integration site 1 JBrowse link 1 28,566,279 28,760,471 RGD:7240710
RGD:9068941
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:7240710
RGD:9068941
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 2 74,977,266 75,046,898 RGD:7240710
RGD:9068941
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:7240710
RGD:9068941
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZC4H2 zinc finger C4H2-type containing JBrowse link X 51,157,102 51,193,993 RGD:7240710
RGD:9068941
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 13 71,374,926 71,422,431 RGD:7240710
RGD:9068941
G KIAA1257 KIAA1257 ortholog JBrowse link 13 71,420,886 71,493,284 RGD:9068941
Miyoshi muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 2 37,171,402 37,256,204 RGD:9068941
G DYSF dysferlin JBrowse link 3 71,020,143 71,237,658 RGD:9068941
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYSF dysferlin JBrowse link 3 71,020,143 71,237,658 RGD:7240710
RGD:9068941
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 2 37,171,402 37,256,204 RGD:7240710
RGD:9068941
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 1 159,317,734 159,417,335 RGD:9068941
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 1 159,317,734 159,417,335 RGD:7240710
RGD:9068941
G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing JBrowse link 1 159,207,951 159,317,675 RGD:9068941
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 1 159,128,039 159,187,476 RGD:9068941
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 11,871,746 11,886,519 RGD:7240710
RGD:9068941
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 17 47,735,339 47,750,052 RGD:7240710
RGD:9068941
Muscle Cramp term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 JBrowse link 17 55,110,546 55,130,328 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
Muscle Hypertonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 17 32,605,586 32,606,449 RGD:9068941
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 12 5,847,170 5,855,791 RGD:9068941
Muscle Hypotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABAT 4-aminobutyrate aminotransferase JBrowse link 3 33,913,068 33,960,804 RGD:9068941
G AHDC1 AT-hook DNA binding motif containing 1 JBrowse link 6 84,735,253 84,774,554 RGD:9068941
G CALHM4 calcium homeostasis modulator family member 4 JBrowse link 1 82,109,535 82,154,349 RGD:9068941
G CALHM5 calcium homeostasis modulator family member 5 JBrowse link 1 82,109,042 82,119,480 RGD:9068941
G CALHM6 calcium homeostasis modulator family member 6 JBrowse link 1 82,085,781 82,087,897 RGD:9068941
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 1 130,845,103 130,847,203 RGD:9068941
G COL10A1 collagen type X alpha 1 chain JBrowse link 1 81,766,829 81,773,818 RGD:9068941
G DCBLD1 discoidin, CUB and LCCL domain containing 1 JBrowse link 1 44,301,108 44,373,712 RGD:9068941
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DHCR7 7-dehydrocholesterol reductase JBrowse link 2 2,377,352 2,391,846 RGD:9068941
G DSE dermatan sulfate epimerase JBrowse link 1 81,996,894 82,063,847 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 14 138,819,846 138,935,504 RGD:9068941
G EXOSC3 exosome component 3 JBrowse link 1 238,536,341 238,541,756 RGD:9068941
G FAM162B family with sequence similarity 162 member B JBrowse link 1 44,889,582 44,897,184 RGD:9068941
G FRK fyn related Src family tyrosine kinase JBrowse link 1 81,606,599 81,714,543 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 6 63,867,155 63,957,514 RGD:9068941
G GOPC golgi associated PDZ and coiled-coil motif containing JBrowse link 1 44,239,364 44,285,886 RGD:9068941
G GPRC6A G protein-coupled receptor class C group 6 member A JBrowse link 1 44,852,731 44,875,518 RGD:9068941
G HDAC2 histone deacetylase 2 JBrowse link 1 79,867,713 79,901,597 RGD:9068941
G HEATR4 HEAT repeat containing 4 JBrowse link 7 96,819,264 96,859,831 RGD:9068941
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 15 56,438,117 56,649,805 RGD:9068941
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 JBrowse link 1 79,956,485 80,140,140 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 2 59,905,901 59,926,504 RGD:9068941
G KANSL1 KAT8 regulatory NSL complex subunit 1 JBrowse link 12 16,901,611 17,096,912 RGD:9068941
G KIF4A kinesin family member 4A JBrowse link X 56,319,453 56,447,560 RGD:9068941
G KPNA5 karyopherin subunit alpha 5 JBrowse link 1 44,900,495 44,941,219 RGD:9068941
G LAMA2 laminin subunit alpha 2 JBrowse link 1 33,765,412 34,359,741 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 8 898,178 926,500 RGD:9068941
G MARCKS myristoylated alanine rich protein kinase C substrate JBrowse link 1 79,789,796 79,795,895 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 124,735,523 124,789,063 RGD:9068941
G MLLT1 MLLT1 super elongation complex subunit JBrowse link 2 72,780,950 72,847,694 RGD:9068941
G NT5DC1 5'-nucleotidase domain containing 1 JBrowse link 1 81,745,918 81,880,691 RGD:9068941
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 1 44,156,771 44,186,224 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:9068941
G PURA purine rich element binding protein A JBrowse link 2 141,877,775 141,899,259 RGD:9068941
G RALGAPA1 Ral GTPase activating protein catalytic alpha subunit 1 JBrowse link 7 64,140,977 64,372,683 RGD:9068941
G RFPL4B ret finger protein like 4B JBrowse link 1 78,312,248 78,313,153 RGD:9068941
G RFX6 regulatory factor X6 JBrowse link 1 44,765,451 44,826,884 RGD:9068941
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase JBrowse link 1 44,409,877 44,535,784 RGD:9068941
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 16,452,401 16,576,854 RGD:9068941
G RPS6KC1 ribosomal protein S6 kinase C1 JBrowse link 9 130,222,631 130,453,584 RGD:9068941
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 4 34,823,869 34,859,777 RGD:9068941
G RSPH4A radial spoke head component 4A JBrowse link 1 44,964,433 45,004,925 RGD:9068941
G RWDD1 RWD domain containing 1 JBrowse link 1 82,161,371 82,180,325 RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 6 47,339,759 47,458,457 RGD:9068941
G SOX5 SRY-box transcription factor 5 JBrowse link 5 49,159,950 50,166,463 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 1 268,116,124 268,205,805 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 7 29,723,745 29,752,351 RGD:9068941
G TBR1 T-box brain transcription factor 1 JBrowse link 15 68,208,884 68,222,993 RGD:9068941
G TCF20 transcription factor 20 JBrowse link 5 6,430,217 6,534,948 RGD:9068941
G TMEM47 transmembrane protein 47 JBrowse link X 30,584,044 30,615,233 RGD:9068941
G TMEM67 transmembrane protein 67 JBrowse link 4 42,878,249 42,931,106 RGD:9068941
G TRAPPC3L trafficking protein particle complex 3 like JBrowse link 1 82,100,970 82,145,418 RGD:9068941
G TSPYL1 TSPY like 1 JBrowse link 1 81,906,168 81,909,461 RGD:9068941
G TSPYL4 TSPY like 4 JBrowse link 1 81,888,946 81,893,643 RGD:9068941
G USP7 ubiquitin specific peptidase 7 JBrowse link 3 33,754,357 33,810,480 RGD:9068941
G VARS1 valyl-tRNA synthetase 1 JBrowse link 7 23,886,132 23,899,265 RGD:9068941
G VGLL2 vestigial like family member 2 JBrowse link 1 44,549,407 44,557,793 RGD:9068941
G ZUP1 zinc finger containing ubiquitin peptidase 1 JBrowse link 1 44,939,914 45,013,764 RGD:9068941
Muscle Rigidity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHAT choline O-acetyltransferase JBrowse link 14 90,117,464 90,167,611 RGD:9068941
G CYP2D25 vitamin D3 25-Hydroxylase JBrowse link 5 6,539,021 6,543,643 RGD:9068941
G GBA glucosylceramidase beta JBrowse link 4 94,583,905 94,606,689 RGD:9068941
G GCH1 GTP cyclohydrolase 1 JBrowse link 1 184,201,232 184,264,060 RGD:9068941
G NPY neuropeptide Y JBrowse link 18 47,985,796 47,993,726 RGD:9068941
G NTS neurotensin JBrowse link 5 96,261,299 96,272,947 RGD:9068941
G PDE8B phosphodiesterase 8B JBrowse link 2 86,007,190 86,323,796 RGD:9068941
G TGM6 transglutaminase 6 JBrowse link 17 33,106,974 33,142,548 RGD:9068941
Muscle Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRA2A adrenoceptor alpha 2A JBrowse link 14 121,469,572 121,470,924 RGD:9068941
G CNR1 cannabinoid receptor 1 JBrowse link 1 56,466,022 56,493,275 RGD:9068941
G CREBBP CREB binding protein JBrowse link 3 38,388,366 38,530,243 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 7 55,200,591 55,220,237 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:9068941
G REEP1 receptor accessory protein 1 JBrowse link 3 58,436,319 58,558,943 RGD:9068941
G SPAST spastin JBrowse link 3 107,439,810 107,508,915 RGD:9068941
Muscle Weakness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACOX1 acyl-CoA oxidase 1 JBrowse link 12 5,450,913 5,479,550 RGD:9068941
G AMPD1 adenosine monophosphate deaminase 1 JBrowse link 4 105,868,834 105,892,171 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G CAMKMT calmodulin-lysine N-methyltransferase JBrowse link 3 95,688,400 96,092,028 RGD:9068941
G CAPN3 calpain 3 JBrowse link 1 128,960,117 129,013,508 RGD:9068941
G CFL2 cofilin 2 JBrowse link 7 65,090,170 65,094,521 RGD:9068941
G CHAT choline O-acetyltransferase JBrowse link 14 90,117,464 90,167,611 RGD:9068941
G CHRND cholinergic receptor nicotinic delta subunit JBrowse link 15 133,040,310 133,047,839 RGD:9068941
G COL6A2 collagen type VI alpha 2 chain RGD:9068941
G CSF2 colony stimulating factor 2 JBrowse link 2 134,354,724 134,357,155 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 12 22,333,445 22,335,949 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 18 1,444,737 1,499,904 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G DYSF dysferlin JBrowse link 3 71,020,143 71,237,658 RGD:9068941
G FKRP fukutin related protein JBrowse link 6 52,627,466 52,639,255 RGD:9068941
G FLNC filamin C JBrowse link 18 19,759,734 19,787,616 RGD:9068941
G GCH1 GTP cyclohydrolase 1 JBrowse link 1 184,201,232 184,264,060 RGD:9068941
G GYG1 glycogenin 1 JBrowse link 13 89,221,086 89,259,569 RGD:9068941
G MYOT myotilin JBrowse link 2 139,899,245 139,919,095 RGD:9068941
G NEB nebulin JBrowse link 15 546,187 766,131 RGD:9068941
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:9068941
G RIF1 replication timing regulatory factor 1 JBrowse link 15 769,518 832,036 RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 6 47,339,759 47,458,457 RGD:9068941
G SCN4A sodium voltage-gated channel alpha subunit 4 JBrowse link 12 15,001,356 15,048,092 RGD:9068941
G SGCB sarcoglycan beta JBrowse link 8 39,130,371 39,148,756 RGD:9068941
G SLC12A3 solute carrier family 12 member 3 JBrowse link 6 18,844,752 18,885,497 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G SYT2 synaptotagmin 2 JBrowse link 10 24,638,645 24,727,198 RGD:9068941
G TBCD tubulin folding cofactor D JBrowse link 12 327,009 449,375 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 5 64,319,349 64,331,876 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G WASHC5 WASH complex subunit 5 JBrowse link 4 14,598,133 14,667,535 RGD:9068941
muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT1 AKT serine/threonine kinase 1 RGD:9068941
G AMPD1 adenosine monophosphate deaminase 1 JBrowse link 4 105,868,834 105,892,171 RGD:9068941
G APAF1 apoptotic peptidase activating factor 1 JBrowse link 5 85,166,616 85,258,751 RGD:9068941
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 1 131,093,026 131,143,840 RGD:9068941
G CFL1 cofilin 1 JBrowse link 2 6,471,558 6,475,019 RGD:9068941
G CHUK component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 14 111,316,178 111,351,669 RGD:9068941
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 1 25,155,652 25,158,517 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
G COL6A3 collagen type VI alpha 3 chain JBrowse link 15 137,011,549 137,103,687 RGD:9068941
G CRHR2 corticotropin releasing hormone receptor 2 JBrowse link 18 42,251,755 42,296,457 RGD:9068941
G CTNNB1 catenin beta 1 JBrowse link 13 25,163,550 25,208,314 RGD:9068941
G CTSL cathepsin L JBrowse link 10 27,668,523 27,674,705 RGD:9068941
G DAG1 dystroglycan 1 JBrowse link 13 32,028,019 32,092,450 RGD:9068941
G ENDOG endonuclease G JBrowse link 1 269,153,955 269,157,789 RGD:9068941
G FBXO32 F-box protein 32 JBrowse link 4 15,895,875 15,925,929 RGD:9068941
G GHR growth hormone receptor JBrowse link 16 27,126,300 27,422,618 RGD:9068941
G GSK3B glycogen synthase kinase 3 beta JBrowse link 13 140,136,109 140,370,197 RGD:9068941
G HSF1 heat shock transcription factor 1 JBrowse link 4 463,531 486,483 RGD:9068941
G HSP90AB1 heat shock protein 90 alpha family class B member 1 JBrowse link 7 39,237,299 39,250,479 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 17 11,289,607 11,348,557 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G LOC100157391 mitochondrial import inner membrane translocase subunit Tim23 JBrowse link 14 90,480,955 90,506,134 RGD:9068941
G MSTN myostatin JBrowse link 15 94,623,526 94,628,440 RGD:9068941
G MTMR4 myotubularin related protein 4 JBrowse link 12 34,745,232 34,771,315 RGD:9068941
G MTOR mechanistic target of rapamycin kinase JBrowse link 6 71,286,989 71,412,913 RGD:9068941
G NEDD4 NEDD4 E3 ubiquitin protein ligase JBrowse link 1 115,941,945 116,069,884 RGD:9068941
G NR3C1 nuclear receptor subfamily 3 group C member 1 JBrowse link 2 144,822,937 144,956,451 RGD:9068941
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 12 11,662,344 11,681,490 RGD:9068941
G RELB RELB proto-oncogene, NF-kB subunit JBrowse link 6 51,444,670 51,480,350 RGD:9068941
G RPS6KB1 ribosomal protein S6 kinase B1 JBrowse link 12 36,111,584 36,159,287 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 3 8,863,738 8,871,572 RGD:9068941
G SGCA sarcoglycan alpha JBrowse link 12 26,356,691 26,368,561 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 13 195,326,573 195,335,273 RGD:9068941
G TFRC transferrin receptor JBrowse link 13 133,976,765 133,997,554 RGD:9068941
G TGIF1 TGFB induced factor homeobox 1 JBrowse link 6 103,226,395 103,234,591 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
G TOMM20 translocase of outer mitochondrial membrane 20 JBrowse link 14 56,113,087 56,127,686 RGD:9068941
G TRIM63 tripartite motif containing 63 JBrowse link 6 83,493,200 83,507,471 RGD:9068941
G TTPA alpha tocopherol transfer protein JBrowse link 4 70,960,580 70,980,883 RGD:9068941
G UCP2 uncoupling protein 2 JBrowse link 9 8,358,559 8,364,552 RGD:9068941
G UCP3 uncoupling protein 3 JBrowse link 9 8,378,023 8,389,452 RGD:9068941
G WWTR1 WW domain containing transcription regulator 1 JBrowse link 13 89,742,980 89,889,547 RGD:9068941
myofibrillar myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP63 centrosomal protein 63 JBrowse link 13 75,605,622 75,707,087 RGD:9068941
G EPHB1 EPH receptor B1 JBrowse link 13 75,904,678 76,351,540 RGD:9068941
G KY kyphoscoliosis peptidase JBrowse link 13 75,726,031 75,774,981 RGD:7240710
RGD:9068941
Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNA1 potassium voltage-gated channel subfamily A member 1 JBrowse link 5 65,556,837 65,565,880 RGD:9068941
myopathy with extrapyramidal signs term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MICU1 mitochondrial calcium uptake 1 JBrowse link 14 75,203,731 75,445,628 RGD:7240710
RGD:9068941
Myotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN1 chloride voltage-gated channel 1 JBrowse link 18 6,902,540 6,941,530 RGD:9068941
G DMPK DM1 protein kinase JBrowse link 6 52,100,259 52,110,822 RGD:9068941
G MBNL1 muscleblind like splicing regulator 1 JBrowse link 13 92,491,778 92,696,235 RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 6 47,339,759 47,458,457 RGD:9068941
G SCN4A sodium voltage-gated channel alpha subunit 4 JBrowse link 12 15,001,356 15,048,092 RGD:9068941
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 4 41,820,718 41,878,857 RGD:7240710
RGD:9068941
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 12 52,779,833 52,806,210 RGD:9068941
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 15 100,086,724 100,499,566 RGD:7240710
RGD:9068941
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 13 33,152,138 33,657,133 RGD:7240710
RGD:9068941
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 4 98,194,138 98,218,862 RGD:7240710
RGD:9068941
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 4 89,296,281 89,311,331 RGD:7240710
RGD:9068941
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRRK1 leucine rich repeat kinase 1 JBrowse link 1 139,494,126 139,624,609 RGD:9068941
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 17 34,784,018 34,801,228 RGD:7240710
RGD:9068941
POLYGLUCOSAN BODY MYOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GYG1 glycogenin 1 JBrowse link 13 89,221,086 89,259,569 RGD:7240710
RGD:9068941
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 10 33,470,089 33,495,584 RGD:9068941
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 8 135,130,486 135,150,428 RGD:7240710
RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 10 14,597,237 14,643,394 RGD:9068941
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 49,069,258 49,120,393 RGD:7240710
RGD:9068941
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDSS2 decaprenyl diphosphate synthase subunit 2 JBrowse link 1 73,234,950 73,510,533 RGD:7240710
RGD:9068941
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDC42BPA CDC42 binding protein kinase alpha JBrowse link 10 14,649,278 14,940,988 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 10 14,597,237 14,643,394 RGD:7240710
RGD:9068941
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ9 coenzyme Q9 JBrowse link 6 19,373,052 19,390,738 RGD:7240710
RGD:9068941
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ6 coenzyme Q6, monooxygenase JBrowse link 7 97,258,617 97,270,927 RGD:7240710
RGD:9068941
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) JBrowse link 7 97,270,698 97,316,578 RGD:9068941
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1H9orf16 chromosome 1 C9orf16 homolog JBrowse link 1 268,616,040 268,619,638 RGD:9068941
G CERCAM cerebral endothelial cell adhesion molecule JBrowse link 1 268,834,967 268,847,236 RGD:9068941
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 1 268,618,972 268,642,064 RGD:9068941
G COQ4 coenzyme Q4 JBrowse link 1 268,756,690 268,768,355 RGD:7240710
RGD:9068941
G DNM1 dynamin 1 JBrowse link 1 268,653,045 268,702,233 RGD:9068941
G GLE1 GLE1 RNA export mediator JBrowse link 1 268,894,281 268,922,752 RGD:9068941
G GOLGA2 golgin A2 JBrowse link 1 268,702,823 268,721,174 RGD:9068941
G LCN2 lipocalin 2 JBrowse link 1 268,609,975 268,614,651 RGD:9068941
G MIR199B microRNA mir-199b JBrowse link 1 268,691,520 268,691,593 RGD:9068941
G MIR219B microRNA mir-219b JBrowse link 1 268,816,967 268,817,050 RGD:9068941
G ODF2 outer dense fiber of sperm tails 2 JBrowse link 1 268,856,755 268,893,390 RGD:9068941
G SLC27A4 solute carrier family 27 member 4 JBrowse link 1 268,773,792 268,788,208 RGD:9068941
G SWI5 SWI5 homologous recombination repair protein JBrowse link 1 268,720,232 268,726,527 RGD:9068941
G TRUB2 TruB pseudouridine synthase family member 2 JBrowse link 1 268,745,815 268,757,771 RGD:9068941
G URM1 ubiquitin related modifier 1 JBrowse link 1 268,798,439 268,815,553 RGD:9068941
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ7 coenzyme Q7, hydroxylase JBrowse link 3 26,366,006 26,373,604 RGD:7240710
RGD:9068941
Primrose Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 13 144,855,821 145,668,320 RGD:7240710
RGD:9068941
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 14 55,816,663 55,901,215 RGD:7240710
RGD:9068941
Sarcopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 106,676,596 106,708,290 RGD:9068941
G AK1 adenylate kinase 1 JBrowse link 1 268,355,032 268,365,659 RGD:9068941
G AR androgen receptor JBrowse link X 53,609,113 53,806,778 RGD:9068941
G ATP5F1A ATP synthase F1 subunit alpha JBrowse link 1 95,738,789 95,750,835 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 6 54,222,341 54,228,150 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 1 158,337,403 158,518,214 RGD:9068941
G CAV1 caveolin 1 JBrowse link 18 29,648,120 29,682,451 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 7 32,354,776 32,363,771 RGD:9068941
G CEBPA CCAAT enhancer binding protein alpha JBrowse link 6 43,083,200 43,085,884 RGD:9068941
G CEBPB CCAAT enhancer binding protein beta JBrowse link 17 51,722,633 51,723,673 RGD:9068941
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 13 122,060,408 122,070,327 RGD:9068941
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha JBrowse link 7 91,085,025 91,109,835 RGD:9068941
G FIS1 fission, mitochondrial 1 JBrowse link 3 8,938,250 8,942,102 RGD:9068941
G FOXO4 forkhead box O4 JBrowse link X 57,132,549 57,140,377 RGD:9068941
G HFE homeostatic iron regulator JBrowse link 7 20,758,604 20,767,004 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G NFKBIA NFKB inhibitor alpha JBrowse link 7 64,508,119 64,510,754 RGD:9068941
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 8 17,841,844 18,527,953 RGD:9068941
G SUPV3L1 Suv3 like RNA helicase JBrowse link 14 72,245,526 72,272,948 RGD:9068941
Scalp Ear Nipple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCTD1 potassium channel tetramerization domain containing 1 JBrowse link 6 111,048,193 111,237,868 RGD:7240710
RGD:9068941
SNIJDERS BLOK-FISHER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POU3F3 POU class 3 homeobox 3 JBrowse link 3 49,804,112 49,807,730 RGD:7240710
RGD:9068941
Spasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GCG glucagon JBrowse link 15 68,800,557 68,810,268 RGD:9068941
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 17 32,605,586 32,606,449 RGD:9068941
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 6 97,200,890 97,234,577 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 12 51,923,764 51,931,875 RGD:9068941
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 14 79,345,382 80,106,337 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 12 51,899,762 51,924,465 RGD:9068941
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 5 64,188,184 64,197,033 RGD:9068941
G VAMP1 vesicle associated membrane protein 1 JBrowse link 5 64,181,496 64,188,275 RGD:7240710
RGD:9068941
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 12 51,923,764 51,931,875 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 12 51,899,762 51,924,465 RGD:7240710
RGD:9068941
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 15 101,508,668 101,524,076 RGD:7240710
RGD:9068941
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTPAP mitochondrial poly(A) polymerase JBrowse link 10 40,764,098 40,869,608 RGD:7240710
RGD:9068941
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 6 97,200,890 97,234,577 RGD:7240710
RGD:9068941
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX6-2 NK6 homeobox 2 JBrowse link 14 140,895,622 140,899,114 RGD:7240710
RGD:9068941
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 1 130,073,919 130,112,461 RGD:7240710
RGD:9068941
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOD1 superoxide dismutase 1 JBrowse link 13 195,326,573 195,335,273 RGD:7240710
RGD:9068941
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 46,281,958 46,444,315 RGD:7240710
RGD:9068941
Tetany term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP5 A-kinase anchoring protein 5 JBrowse link 7 88,538,938 88,544,330 RGD:9068941
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 14 113,888,970 114,060,369 RGD:9068941
Three M Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CUL7 cullin 7 JBrowse link 7 38,097,848 38,116,041 RGD:7240710
RGD:9068941
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 15 121,560,009 121,581,314 RGD:9068941
Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 15 121,560,009 121,581,314 RGD:7240710
RGD:9068941
Three M Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC8 coiled-coil domain containing 8 JBrowse link 6 52,474,508 52,478,257 RGD:7240710
RGD:9068941
Trismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 13 104,946,732 105,007,568 RGD:9068941
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 124,735,523 124,789,063 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11981
    Pathological Conditions, Signs and Symptoms 6893
      Signs and Symptoms 4051
        Neurologic Manifestations 3416
          Neuromuscular Manifestations 310
            Fasciculation + 2
            Muscle Cramp + 4
            Muscle Hypertonia + 49
            Muscle Hypotonia + 116
            Muscle Weakness + 66
            Myokymia + 3
            Myotonia + 5
            Spasm + 9
            Tetany 2
            muscular atrophy + 73
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.