Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Neuromuscular Manifestations
go back to main search page
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.

show annotations for term's descendants           Sort by:
 
Neuromuscular Manifestations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17023870 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430, PMID:8503454 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 		JBrowse link
3-M syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISS OMIM:273750 | OMIM:612921 | OMIM:614205 MouseDO NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700 		JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by OMIM:273750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Yakut short stature syndrome		 ClinVar
CTD		 PMID:17675530 NCBI chr 9:16,629,491...16,643,527
Ensembl chr 9:16,629,401...16,643,182 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO
ISS		 ClinVar Annotator: match by term: Three M syndrome
OMIM:273750 | OMIM:612921 | OMIM:614205		 ClinVar
MouseDO		 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: AL-RAQAD SYNDROME OMIM
ClinVar		 PMID:25701870, PMID:25712129, PMID:25741868, PMID:28492532, PMID:30289615 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:22865833, PMID:25741868, PMID:30006060, PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM		 PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523		 OMIM
ClinVar		 PMID:1605231, PMID:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, PMID:28492532 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214 		JBrowse link
autosomal dominant mental retardation 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
ClinVar Annotator: match by OMIM:613443		 OMIM
ClinVar		 PMID:7679508, PMID:18414213, PMID:19592390, PMID:19876902, PMID:20333642, PMID:20513142, PMID:22031302, PMID:23001426, PMID:24088041, PMID:25741868, PMID:25741869, PMID:26633545, PMID:27255693, PMID:27748065, PMID:28492532, PMID:28554332, PMID:29706646, PMID:30376817 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787 		JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss		 ClinVar
OMIM		 PMID:9490303, PMID:9917792, PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:14961560, PMID:15505825, PMID:16513463, PMID:17722006, PMID:18222991, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25146916, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28812649, PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
ClinVar Annotator: match by OMIM:121200		 OMIM
ClinVar		 PMID:3360469, PMID:6965523, PMID:7980108, PMID:8327138, PMID:9425895, PMID:9430594, PMID:9872318, PMID:10323247, PMID:10482260, PMID:10774989, PMID:10781098, PMID:11175290, PMID:11572947, PMID:11690625, PMID:11784811, PMID:12742592, PMID:12754513, PMID:12847176, PMID:14534157, PMID:14669214, PMID:14985406, PMID:15030501, PMID:15178210, PMID:15249611, PMID:15596769, PMID:15608631, PMID:16039833, PMID:16260777, PMID:16319223, PMID:16686649, PMID:16691402, PMID:16829045, PMID:16916607, PMID:16966552, PMID:17129708, PMID:17475800, PMID:17675531, PMID:17872363, PMID:17993630, PMID:18006581, PMID:18238816, PMID:18246739, PMID:18353052, PMID:18414213, PMID:18483067, PMID:19344764, PMID:19380078, PMID:19453707, PMID:19559753, PMID:19818940, PMID:20119593, PMID:20196795, PMID:21913284, PMID:21937445, PMID:22169383, PMID:22275249, PMID:22455920, PMID:22926866, PMID:23290024, PMID:23360469, PMID:23440208, PMID:23621294, PMID:23692823, PMID:23708187, PMID:23849776, PMID:23934111, PMID:24107868, PMID:24318194, PMID:24375629, PMID:24586341, PMID:25046240, PMID:25262651, PMID:25326635, PMID:25740509, PMID:25741868, PMID:25880994, PMID:25959266, PMID:25960349, PMID:25982755, PMID:26007637, PMID:26073431, PMID:26138355, PMID:26467025, PMID:26544041, PMID:26704558, PMID:26795593, PMID:26993267, PMID:27334371, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27861786, PMID:27864847, PMID:28133863, PMID:28139826, PMID:28399683, PMID:28492532, PMID:28602030, PMID:28687180, PMID:28973083, PMID:29056246, PMID:29129156, PMID:29186148, PMID:29190809, PMID:29215089, PMID:29390993, PMID:29429461, PMID:29655203, PMID:29933521, PMID:30126342, PMID:30185235, PMID:30311386, PMID:31199083, PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951 		JBrowse link
Birk-Barel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO ClinVar Annotator: match by term: Birk-Barel syndrome
ClinVar Annotator: match by term: Birk Barel mental retardation dysmorphism syndrome
ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome
ClinVar Annotator: match by OMIM:612292		 OMIM
ClinVar		 PMID:18678320, PMID:23236211, PMID:25326635, PMID:25741868, PMID:27151206 NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941 		JBrowse link
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:31448845 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362 		JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441		 OMIM
ClinVar		 PMID:22422768, PMID:24033266, PMID:25326635, PMID:25741868, PMID:25922419, PMID:26200674, PMID:28492532 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22267198, PMID:22387016, PMID:23869908, PMID:24033266, PMID:25182133, PMID:25741868, PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:16943371, PMID:18076099, PMID:22267198, PMID:22387016, PMID:22532422, PMID:22899577, PMID:23869908, PMID:24033266, PMID:24115768, PMID:25182133, PMID:25741868, PMID:28492532, PMID:29228254, PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 ClinVar
OMIM		 PMID:27432940 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729 		JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by OMIM:270550		 OMIM
ClinVar		 PMID:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16606928, PMID:16944349, PMID:16961075, PMID:17516465, PMID:17683082, PMID:17846221, PMID:18414213, PMID:18439928, PMID:18465152, PMID:18569450, PMID:18604465, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20301432, PMID:20368637, PMID:20798953, PMID:20852969, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21665375, PMID:21745802, PMID:21993619, PMID:22287014, PMID:22441213, PMID:22751902, PMID:22816526, PMID:22892508, PMID:23043354, PMID:23250129, PMID:23280630, PMID:23338241, PMID:23497566, PMID:23598833, PMID:24033266, PMID:24180463, PMID:24318559, PMID:24384335, PMID:24457356, PMID:25237835, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26010040, PMID:26068213, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28362824, PMID:28454995, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29220673, PMID:29379980, PMID:29389947, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:29968200, PMID:30680480, PMID:32488064 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345 		JBrowse link
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia ClinVar
OMIM		 PMID:24334290 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880 		JBrowse link
coenzyme Q10 deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type ClinVar PMID:24033266, PMID:26285866, PMID:26467025, PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126, PMID:16400613, PMID:17332895, PMID:17374725, PMID:17420317, PMID:17855635, PMID:20495179, PMID:23758206, PMID:24988567, PMID:25525159, PMID:25741868, PMID:27493029, PMID:28492532 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:26467025, PMID:28492532 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419 		JBrowse link
G Coq9 coenzyme Q9 ISS
ISO		 OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 MouseDO
ClinVar		 NCBI chr19:10,583,855...10,596,848
Ensembl chr19:10,583,857...10,596,851 		JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr17:90,033,432...90,072,506
Ensembl chr17:90,033,539...90,071,408 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISS
ISO		 OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 MouseDO
ClinVar		 NCBI chr20:47,966,513...48,192,747
Ensembl chr20:47,966,583...48,192,743 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358, PMID:16648375, PMID:28492532 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9628581, PMID:11169562, PMID:11477603, PMID:12730828, PMID:15141358, PMID:15154116, PMID:15173253, PMID:15211651, PMID:15498460, PMID:15691367, PMID:16648375, PMID:16917849, PMID:17383910, PMID:17786118, PMID:17990063, PMID:18414213, PMID:18655112, PMID:19006247, PMID:19190672, PMID:19533689, PMID:20461111, PMID:20656880, PMID:20683995, PMID:20921020, PMID:21330571, PMID:21418059, PMID:21659346, PMID:21865173, PMID:22382802, PMID:22527104, PMID:22855652, PMID:23033978, PMID:23188044, PMID:23352163, PMID:23757202, PMID:24033266, PMID:24311531, PMID:24334764, PMID:25326635, PMID:25356970, PMID:25472526, PMID:25502226, PMID:25525159, PMID:25533962, PMID:25741868, PMID:26104215, PMID:26133662, PMID:26395554, PMID:26443248, PMID:26467025, PMID:26938784, PMID:27175599, PMID:27353947, PMID:27380831, PMID:27533158, PMID:27829003, PMID:28041643, PMID:28341476, PMID:28492532, PMID:28631888, PMID:28832562, PMID:29431110, PMID:29453417, PMID:29706646, PMID:29758347, PMID:30138938, PMID:30311386, PMID:30602132, PMID:32860008 NCBI chr 7:74,118,834...74,722,341 JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:219,468,866...219,472,445
Ensembl chr 1:219,468,675...219,472,654 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317 		JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207 		JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066, PMID:17436251, PMID:17436252, PMID:19012339, PMID:25326637, PMID:26752647 NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:27392078 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207 		JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar		 PMID:16782820, PMID:20400119, PMID:25741868 NCBI chr 1:219,468,866...219,472,445
Ensembl chr 1:219,468,675...219,472,654 		JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3
ClinVar Annotator: match by term: PERCHING syndrome
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3		 ClinVar
OMIM		 PMID:18414213, PMID:25741868, PMID:27392078, PMID:29074562, PMID:30300710 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:17033963, PMID:20435138, PMID:21119709, PMID:21169334, PMID:21741925, PMID:22277967, PMID:22499341, PMID:25037205, PMID:25741868, PMID:28492532 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346 		JBrowse link
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM		 PMID:25683120, PMID:25741868, PMID:25864427, PMID:26938784, PMID:27681385, PMID:30167850 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704 		JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM
ClinVar		 PMID:17067864, PMID:25741868, PMID:30827498 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755 		JBrowse link
Desanto-Shinawi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME
ClinVar Annotator: match by term: Desanto-shinawi syndrome		 ClinVar
OMIM		 PMID:21522184, PMID:23033978, PMID:25356899, PMID:25741868, PMID:26264232, PMID:26325558, PMID:26757981, PMID:29190062 NCBI chr17:60,887,606...60,946,630
Ensembl chr17:60,888,017...60,946,426 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 ClinVar
OMIM		 PMID:31412107 NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709 		JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome		 ClinVar PMID:3495735, PMID:4750422, PMID:8653794, PMID:11754102, PMID:16677079, PMID:16835936, PMID:17345643, PMID:17935258, PMID:18414213, PMID:18767143, PMID:19006240, PMID:22325249, PMID:23148498, PMID:24033266, PMID:24833718, PMID:24899048, PMID:25525159, PMID:25741868, PMID:25944730, PMID:26038974, PMID:26133393, PMID:28492532, PMID:29926239, PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by OMIM:158300		 OMIM
ClinVar		 PMID:1600999, PMID:4443857, PMID:4837286, PMID:12800911, PMID:15282353, PMID:15590965, PMID:17041932, PMID:18049072, PMID:18414213, PMID:20949528, PMID:25305228, PMID:25741868, PMID:28492532, PMID:30311386, PMID:17041932 RGD:12914760 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524 		JBrowse link
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
ClinVar Annotator: match by term: Dystonia 9
DNA:missense mutation:exon: p.R212C (c.634C>T) (human)		 OMIM
ClinVar		 PMID:8808284, PMID:10980529, PMID:11477212, PMID:12325075, PMID:16217704, PMID:16949238, PMID:17052934, PMID:18414213, PMID:18606970, PMID:19798636, PMID:20417043, PMID:21069159, PMID:21135204, PMID:21555602, PMID:21832227, PMID:23280796, PMID:23340081, PMID:23448551, PMID:25326635, PMID:25487684, PMID:25564316, PMID:25741868, PMID:25914049, PMID:25982116, PMID:26193382, PMID:26467025, PMID:26537434, PMID:28492532, PMID:21832227 RGD:12879478 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8
ClinVar Annotator: match by OMIM:300607		 OMIM
ClinVar		 PMID:15215304, PMID:17893116, PMID:18414213, PMID:18615734, PMID:21626670, PMID:21633362, PMID:21731583, PMID:23033978, PMID:25678704, PMID:25741868, PMID:26467025, PMID:26834553, PMID:28492532, PMID:28589176, PMID:28620718, PMID:28708303, PMID:32860008 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592 		JBrowse link
Epilepsy, Benign Neonatal, 1, and/or Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629, PMID:25741868 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951 		JBrowse link
episodic ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
IAGP		 ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia
ClinVar Annotator: match by OMIM:160120		 OMIM
ClinVar		 PMID:2245301, PMID:7842011, PMID:8541859, PMID:8845167, PMID:9526001, PMID:10355668, PMID:11026449, PMID:15979945, PMID:19779067, PMID:19903818, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29375859, PMID:30140249, PMID:22206926 RGD:10047237 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526 		JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		JBrowse link
Familial Dyskinesia with Facial Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia
ClinVar Annotator: match by OMIM:606703		 OMIM
ClinVar		 PMID:1618857, PMID:8415621, PMID:8429907, PMID:8511718, PMID:10051231, PMID:11310626, PMID:12223546, PMID:12503609, PMID:12665504, PMID:22539851, PMID:22782511, PMID:23449625, PMID:24700542, PMID:25193033, PMID:25326635, PMID:25379658, PMID:25545163, PMID:25741868, PMID:25790160, PMID:26085604, PMID:26537056, PMID:26686870, PMID:27052971, PMID:27061943, PMID:28229249, PMID:28492532, PMID:28511835 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320 		JBrowse link
Fasciculation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:6465587 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Fasciculation ClinVar PMID:8533761, PMID:8845168, PMID:10737121, PMID:12163078, PMID:25741868, PMID:25749817, PMID:26467025, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Tongue fasciculation ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Fasciculations ClinVar PMID:30311386 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Fasciculations ClinVar PMID:30311386 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Fasciculation ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074 		JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Fasciculations ClinVar PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Tongue fasciculation ClinVar PMID:25741868, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583 		JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:19200522 RGD:11576290 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)		 CTD
ClinVar		 PMID:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:20507344, PMID:20970104, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, PMID:28492532, PMID:30311386, PMID:17334363, PMID:20507344 RGD:12910952, RGD:12910948 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:18691967, PMID:19938245, PMID:20507344, PMID:20970104, PMID:20981778, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326635, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, PMID:28492532, PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732 		JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 ClinVar
OMIM		 PMID:16299064, PMID:17632775, PMID:25167861, PMID:25741868, PMID:28133863, PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder		 ClinVar
OMIM		 PMID:18414213, PMID:19165920, PMID:19200522, PMID:19377476, PMID:20029458, PMID:21498811, PMID:21609947, PMID:21735175, PMID:21954287, PMID:22452838, PMID:22495306, PMID:22709267, PMID:23165780, PMID:23623288, PMID:23662938, PMID:24768552, PMID:24781210, PMID:24893065, PMID:25741868, PMID:25886057, PMID:26467025, PMID:27799067, PMID:28492532, PMID:28783747, PMID:29691940 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175, PMID:28492532 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167 		JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175, PMID:28492532 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401 		JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr13:93,740,759...93,742,624 JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr13:93,936,989...93,962,749
Ensembl chr13:93,939,022...93,960,342 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
ClinVar Annotator: match by term: Fumaric aciduria
ClinVar Annotator: match by term: Fumarate Hydratase Deficiency
ClinVar Annotator: match by OMIM:606812		 OMIM
ClinVar		 PMID:2314594, PMID:8007976, PMID:8200987, PMID:9300800, PMID:9635293, PMID:9665847, PMID:10896297, PMID:11585823, PMID:11865300, PMID:12761039, PMID:12772087, PMID:14632190, PMID:15221078, PMID:15663510, PMID:15761418, PMID:15937070, PMID:15987702, PMID:16029320, PMID:16151915, PMID:16206287, PMID:16237213, PMID:16288654, PMID:16309500, PMID:16403393, PMID:16510303, PMID:16575891, PMID:16597677, PMID:16639410, PMID:16757530, PMID:16876016, PMID:16881969, PMID:17182618, PMID:17270241, PMID:17392716, PMID:17768033, PMID:17960613, PMID:18176756, PMID:18313410, PMID:18366737, PMID:18503824, PMID:18514489, PMID:19151755, PMID:19339519, PMID:19470762, PMID:19939761, PMID:19967458, PMID:20231875, PMID:20549362, PMID:20618355, PMID:21051878, PMID:21304509, PMID:21340633, PMID:21398687, PMID:21404119, PMID:21445611, PMID:21447597, PMID:21520333, PMID:21560188, PMID:21630274, PMID:21733559, PMID:21904061, PMID:21929734, PMID:22069215, PMID:22086304, PMID:22127509, PMID:22243733, PMID:22382802, PMID:22473397, PMID:22528940, PMID:22561013, PMID:22565324, PMID:22595425, PMID:22703879, PMID:22764886, PMID:23203078, PMID:23211287, PMID:23320739, PMID:23612258, PMID:24182348, PMID:24334767, PMID:24346898, PMID:24419633, PMID:24441663, PMID:24625422, PMID:24684806, PMID:24728327, PMID:25004247, PMID:25292446, PMID:25477250, PMID:25525159, PMID:25613812, PMID:25637381, PMID:25741868, PMID:25750977, PMID:25852058, PMID:25913776, PMID:25923021, PMID:25985877, PMID:26023681, PMID:26173633, PMID:26323704, PMID:26457356, PMID:26574848, PMID:26700204, PMID:26900816, PMID:26983443, PMID:27037871, PMID:27541980, PMID:28196407, PMID:28266706, PMID:28300276, PMID:28492532, PMID:28747166, PMID:28825054, PMID:28873162, PMID:29423582, PMID:29456767, PMID:29909963, PMID:30050099, PMID:30311386, PMID:30548481, PMID:30761759, PMID:30967997, PMID:31444830, PMID:31746132 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227 		JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr13:93,716,481...93,746,994
Ensembl chr13:93,716,481...93,746,994 		JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr13:93,751,754...93,874,149
Ensembl chr13:93,751,759...93,874,105 		JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP		 ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000		 OMIM
ClinVar		 PMID:2303074, PMID:5306139, PMID:7711737, PMID:7847371, PMID:7959740, PMID:8733133, PMID:8733134, PMID:9600238, PMID:9835437, PMID:9870210, PMID:10330341, PMID:11286390, PMID:12862311, PMID:12872839, PMID:17689125, PMID:18950708, PMID:21634085, PMID:21646031, PMID:21857251, PMID:21911307, PMID:22899091, PMID:23578772, PMID:24055370, PMID:25070466, PMID:25266922, PMID:25741868, PMID:25741869, PMID:26157701, PMID:27103379, PMID:28468868, PMID:28492532, PMID:28600779, PMID:28627441, PMID:30659246, PMID:28627441, PMID:8733134, PMID:28283841 RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:35,970,650...36,926,616 JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar Annotator: match by OMIM:261750		 OMIM
ClinVar		 PMID:9215682, PMID:9402963, PMID:12825073, PMID:17689125, PMID:18950708, PMID:21646031, PMID:25070466, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:22,031,684...22,281,788
Ensembl chr19:22,033,228...22,281,778 		JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by OMIM:613027
ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by null		 ClinVar
OMIM		 PMID:2558039, PMID:6962066, PMID:7562285, PMID:8896567, PMID:9384616, PMID:10905889, PMID:12930917, PMID:17689125, PMID:24102521, PMID:24389071, PMID:25741868, PMID:28492532 NCBI chr 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052 		JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559		 OMIM
ClinVar		 PMID:2252364, PMID:7874115, PMID:8145916, PMID:9731190, PMID:12825073, PMID:15637709, PMID:18401027, PMID:22238410, PMID:25741868, PMID:28492532 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366 		JBrowse link
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy		 ClinVar
OMIM		 PMID:25741868, PMID:27426735, PMID:27891590 NCBI chr17:15,356,016...15,402,680
Ensembl chr17:15,355,529...15,402,649 		JBrowse link
Hemifacial Spasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:30684712 RGD:14975126 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
ClinVar Annotator: match by OMIM:611773		 OMIM
ClinVar		 PMID:17030722, PMID:18077766, PMID:18160688, PMID:19477666, PMID:20385946, PMID:20733150, PMID:20818663, PMID:21527998, PMID:21625620, PMID:22522439, PMID:22574627, PMID:25228067, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868, PMID:26467025 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561 		JBrowse link
hyperekplexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651 		JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia hereditary ClinVar PMID:12684523, PMID:28492532 NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:16884688, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363 		JBrowse link
hyperekplexia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Hyperekplexia 1 OMIM
ClinVar		 PMID:1334371, PMID:7518444, PMID:7611730, PMID:7874121, PMID:7881416, PMID:7981700, PMID:8298642, PMID:8571969, PMID:8651283, PMID:8733061, PMID:9009272, PMID:9067762, PMID:9920650, PMID:10514101, PMID:10817489, PMID:11389164, PMID:11702206, PMID:11781706, PMID:11973623, PMID:12169101, PMID:15365143, PMID:15771552, PMID:16078201, PMID:16236274, PMID:16832093, PMID:17536053, PMID:18043720, PMID:19732286, PMID:20631190, PMID:22264702, PMID:24033266, PMID:24108130, PMID:25036534, PMID:25333069, PMID:25568133, PMID:25741868, PMID:26733802, PMID:27391121, PMID:27435318, PMID:28122427, PMID:28138086, PMID:28174298, PMID:28492532, PMID:28617419, PMID:28879899, PMID:28985719, PMID:30078784, PMID:30182260, PMID:30311386 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651 		JBrowse link
G Gphn gephyrin ISS
ISO		 OMIM:149400
ClinVar Annotator: match by term: Hyperekplexia 1		 MouseDO
ClinVar		 PMID:12684523, PMID:28492532 NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164 		JBrowse link
hyperekplexia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia 2
ClinVar Annotator: match by OMIM:614619		 OMIM
ClinVar		 PMID:11929858, PMID:21391991, PMID:23184146, PMID:28492532 NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547 		JBrowse link
hyperekplexia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia 3
ClinVar Annotator: match by OMIM:614618		 OMIM
ClinVar		 PMID:14622583, PMID:16751771, PMID:16884688, PMID:22700964, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363 		JBrowse link
hyperekplexia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: HYPEREKPLEXIA 4 ClinVar
OMIM		 PMID:25741868, PMID:28180185, PMID:29390050, PMID:29659736 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002 		JBrowse link
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
ClinVar Annotator: match by term: EBF3-related disorder		 ClinVar
OMIM		 PMID:19627984, PMID:20300201, PMID:25741868, PMID:28017370, PMID:28017372, PMID:28017373, PMID:28487885, PMID:28492532, PMID:29062322, PMID:29162653, PMID:30311386, PMID:32581362 NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123 		JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ClinVar
OMIM		 PMID:7479821, PMID:27094857, PMID:28955726 NCBI chr14:82,762,109...82,789,350
Ensembl chr14:82,762,190...82,789,319 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION ClinVar
OMIM		 PMID:26358778 NCBI chr 4:123,760,708...123,787,529
Ensembl chr 4:123,760,743...123,787,528 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism		 OMIM
ClinVar		 PMID:23749988, PMID:24075186, PMID:25683120, PMID:25741868, PMID:26923739, PMID:27214504, PMID:27473021, PMID:27558372, PMID:27633718, PMID:28133733, PMID:28492532, PMID:30167850, PMID:24075186, PMID:23749988 RGD:12914762, RGD:12911215 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by OMIM:616801		 ClinVar
OMIM		 PMID:1122901, PMID:14534265, PMID:17448995, PMID:17825559, PMID:19092807, PMID:19348700, PMID:19854944, PMID:21040849, PMID:22542183, PMID:24033266, PMID:24267886, PMID:25741868, PMID:26545877, PMID:26708751, PMID:26708753, PMID:28492532, PMID:28708303, PMID:30167850, PMID:26545877 RGD:11528248 NCBI chr 9:73,492,907...73,686,578
Ensembl chr 9:73,493,027...73,683,000 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy		 ClinVar
OMIM		 PMID:18541960, PMID:23977024, PMID:25558065, PMID:25741868, PMID:27040691, PMID:27040692, PMID:27275012, PMID:27748029, PMID:28492532, PMID:29283439, PMID:32576985, PMID:32860008 NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM		 PMID:30905399 NCBI chr12:10,496,273...10,561,335 JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)
ClinVar Annotator: match by OMIM:300804		 OMIM
ClinVar		 PMID:18546297, PMID:19800048, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26092869, PMID:28492532, PMID:16783569, PMID:19800048 RGD:11535965, RGD:11535963 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925 		JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar Annotator: match by OMIM:608629		 ClinVar
OMIM		 PMID:15322546, PMID:15467982, PMID:16155189, PMID:16240161, PMID:16453322, PMID:17409309, PMID:18054307, PMID:18414213, PMID:21068128, PMID:21623382, PMID:21937992, PMID:22236771, PMID:22693042, PMID:22773737, PMID:23532844, PMID:24690944, PMID:25326637, PMID:25356976, PMID:25445212, PMID:25525159, PMID:25558065, PMID:25616960, PMID:25741868, PMID:26035799, PMID:26035800, PMID:26092869, PMID:26467025, PMID:28041643, PMID:28431631, PMID:28442542, PMID:28492532, PMID:16155189, PMID:18268248, PMID:21623382, PMID:15322546, PMID:26541515, PMID:16453322, PMID:15467982, PMID:18054307 RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769 		JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 5
ClinVar Annotator: match by OMIM:610188
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17964524, PMID:18327255, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17617513, PMID:17409309 RGD:11537352, RGD:7246903 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327 		JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
ClinVar Annotator: match by OMIM:611369		 OMIM
ClinVar		 PMID:17701898, PMID:25741868 NCBI chr 7:11,267,207...11,294,291
Ensembl chr 7:11,267,218...11,294,249 		JBrowse link
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: LEMSPAD SYNDROME ClinVar
OMIM		 PMID:25741868, PMID:32197074 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency		 OMIM
ClinVar		 PMID:1522835, PMID:3347350, PMID:3580562, PMID:6381059, PMID:7564788, PMID:7647779, PMID:7726158, PMID:7741859, PMID:7920641, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8940272, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9781030, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10551815, PMID:10732818, PMID:10767000, PMID:10869114, PMID:10923034, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12673793, PMID:12733064, PMID:12796225, PMID:12840091, PMID:12915598, PMID:14647408, PMID:15048559, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17409006, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18523009, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20236116, PMID:20356773, PMID:20490923, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:21778025, PMID:22143415, PMID:22838948, PMID:22887477, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:24797679, PMID:24997712, PMID:25007187, PMID:25024447, PMID:25065700, PMID:25079578, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25736335, PMID:25741868, PMID:25778468, PMID:25856670, PMID:26014925, PMID:26025547, PMID:26872964, PMID:26898294, PMID:27399166, PMID:27743313, PMID:27768236, PMID:28492532, PMID:28696419, PMID:29391032, PMID:29683944, PMID:30311386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome		 CTD
ClinVar
OMIM		 PMID:1915520, PMID:2018061, PMID:4039531, PMID:23623388, PMID:25741868, PMID:26056227, PMID:28814648, PMID:31206972 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682 		JBrowse link
Miyoshi muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi myopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by OMIM:254130
ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
ClinVar Annotator: match by term: Miyoshi myopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12796534, PMID:14678801, PMID:15469449, PMID:15535137, PMID:17512949, PMID:17868276, PMID:18832576, PMID:18853459, PMID:19493611, PMID:20535123, PMID:22213072, PMID:22297152, PMID:24033266, PMID:24239059, PMID:24438169, PMID:24838345, PMID:25741868, PMID:25868377, PMID:25987458, PMID:26077327, PMID:26290895, PMID:26467025, PMID:27666772, PMID:28492532 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873 		JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar
OMIM		 PMID:2764718, PMID:8808603, PMID:9731526, PMID:10196377, PMID:11053681, PMID:11468312, PMID:11532985, PMID:12796534, PMID:14678801, PMID:15293763, PMID:15835269, PMID:16010686, PMID:16087766, PMID:16100712, PMID:16891820, PMID:16934466, PMID:17070050, PMID:17287450, PMID:17698709, PMID:17825554, PMID:17994539, PMID:18276788, PMID:18306167, PMID:18832576, PMID:18853459, PMID:19084402, PMID:19528035, PMID:20301480, PMID:20535123, PMID:20544924, PMID:20558759, PMID:21522182, PMID:21816046, PMID:22194990, PMID:22246893, PMID:22297152, PMID:22849992, PMID:22995991, PMID:23243261, PMID:24033266, PMID:24123366, PMID:24488599, PMID:24838345, PMID:25312915, PMID:25493284, PMID:25574751, PMID:25591676, PMID:25741868, PMID:25807536, PMID:25821721, PMID:25868377, PMID:26060040, PMID:26467025, PMID:26579332, PMID:26806107, PMID:26916285, PMID:27066573, PMID:27363342, PMID:27602406, PMID:27641898, PMID:27647186, PMID:27666772, PMID:27854218, PMID:28492532, PMID:30107846, PMID:30366248 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873 		JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3
ClinVar Annotator: match by term: Miyoshi myopathy 3
DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9673985, PMID:17132147, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23530687, PMID:23606453, PMID:23607914, PMID:23663589, PMID:23670307, PMID:24022920, PMID:24033266, PMID:24232312, PMID:24803842, PMID:24843231, PMID:25135358, PMID:25741868, PMID:25864073, PMID:25891276, PMID:26467025, PMID:27708273, PMID:27854218, PMID:27911336, PMID:28492532, PMID:30311386, PMID:20096397 RGD:11570558 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Miyoshi myopathy 3 ClinVar PMID:7762555, PMID:8353501, PMID:9587029, PMID:10408774, PMID:12686134, PMID:14722927, PMID:16307898, PMID:20490928, PMID:20506325, PMID:22069143, PMID:22267502, PMID:22612060, PMID:25326637, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:24033266, PMID:26394714, PMID:28492532 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by OMIM:614080		 OMIM
ClinVar		 PMID:10574991, PMID:18635593, PMID:21493957, PMID:24033266, PMID:24253414, PMID:24852103, PMID:25741868, PMID:25920937, PMID:26364997, PMID:26394714, PMID:26419326, PMID:26467025, PMID:26539891, PMID:26633542, PMID:26879448, PMID:26964041, PMID:27038415, PMID:28273706, PMID:28327575, PMID:28492532, PMID:29096607, PMID:29330547, PMID:32860008 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473 		JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by OMIM:300868		 OMIM
ClinVar		 PMID:8541557, PMID:8599356, PMID:8652378, PMID:9307258, PMID:10087994, PMID:15307104, PMID:22305531, PMID:24259184, PMID:24259288, PMID:24357517, PMID:24706016, PMID:24759409, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26545172, PMID:28441409, PMID:28492532, PMID:29310717 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: PIGT-related disorder
ClinVar Annotator: match by OMIM:615398		 OMIM
ClinVar		 PMID:23636107, PMID:24906948, PMID:25741868, PMID:25943031, PMID:27916860, PMID:28492532, PMID:28728837, PMID:32581362 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739 		JBrowse link
Muscle Cramp term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:7581380, PMID:8533761, PMID:8845168, PMID:8857727, PMID:10051520, PMID:10737121, PMID:10962018, PMID:12163078, PMID:12390967, PMID:23739125, PMID:24349310, PMID:25036107, PMID:25741868, PMID:25749817, PMID:26467025, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:3490596, PMID:21675912, PMID:22047571, PMID:23001465, PMID:23485543, PMID:24518185, PMID:25194629, PMID:25446019, PMID:25741868, PMID:26097993, PMID:26117226, PMID:27394135, PMID:27798933, PMID:28470390, PMID:28492532 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:23352160, PMID:23871722, PMID:25741868, PMID:26467025, PMID:26743743, PMID:26990548, PMID:28492532, PMID:30311386, PMID:30415094 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:2269438, PMID:10649495, PMID:25435509, PMID:28727984, PMID:29685539, PMID:30311386, PMID:30497978 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
Muscle Hypertonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:2928313, PMID:23975452, PMID:28492532, PMID:30311386 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749 		JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr 6:92,423,412...92,527,776
Ensembl chr 6:92,433,381...92,527,711 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:2862618 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:9285796, PMID:9401012, PMID:10601282, PMID:11182930, PMID:15146460, PMID:15542396, PMID:18407553, PMID:21061399, PMID:22976768, PMID:24314109, PMID:25741868, PMID:28492532, PMID:28844463, PMID:30311386, PMID:30809705, PMID:31536183 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926 		JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:30311386 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553 		JBrowse link
Muscle Hypotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:14517516, PMID:19327992, PMID:21429517, PMID:23798014, PMID:25214167, PMID:25741868, PMID:26385305, PMID:28492532, PMID:30311386 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526 		JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:107,485,088...107,493,082
Ensembl chr 6:107,485,249...107,493,798 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:19562689, PMID:24642510, PMID:26172852, PMID:28492532, PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084 		JBrowse link
G Agbl1 ATP/GTP binding protein-like 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Hypotonia
ClinVar Annotator: match by term: Muscle hypotonia		 ClinVar PMID:23806086, PMID:24088041, PMID:24791903, PMID:25741868 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:1856829, PMID:2336380, PMID:8541450, PMID:11757579, PMID:12205126, PMID:12417303, PMID:15880727, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20882353, PMID:23430936, PMID:28492532, PMID:30311386 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824 		JBrowse link
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 2:224,851,352...224,931,461
Ensembl chr 2:224,851,383...224,931,459 		JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:30311386 NCBI chr 6:27,835,346...27,919,285
Ensembl chr 6:27,887,797...27,915,563 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028 		JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868, PMID:30311386 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:17345604, PMID:17564967, PMID:20683928, PMID:21866095, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789 		JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr16:80,839,373...80,850,340
Ensembl chr16:80,839,374...80,850,340 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:25741868, PMID:27479907, PMID:30311386 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:20717163, PMID:24033266, PMID:27460420, PMID:30311386 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467 		JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr20:41,180,295...41,190,664
Ensembl chr20:41,184,287...41,189,633 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:11007540, PMID:20179744, PMID:22496037, PMID:22522174, PMID:26747767, PMID:27390512, PMID:28492532, PMID:29453956, PMID:30181686, PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Decreased muscle tone
ClinVar Annotator: match by term: Muscle hypotonia		 ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464 		JBrowse link
G Ddc dopa decarboxylase ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:24033266, PMID:24503780, PMID:25741868, PMID:26265630, PMID:26724190, PMID:28341588, PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386, PMID:11230174 RGD:734884 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:28492532, PMID:30311386, PMID:30564623 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Decreased muscle tone
ClinVar Annotator: match by term: Muscle hypotonia		 ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:8147499, PMID:11110791, PMID:22544365, PMID:23284067, PMID:23564332, PMID:23883322, PMID:23975261, PMID:24524299, PMID:25326635, PMID:25533962, PMID:25741868, PMID:27777260, PMID:28492532, PMID:28687512, PMID:29656927 NCBI chr 5:60,866,498...60,871,734
Ensembl chr 5:60,868,502...60,871,705 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738 		JBrowse link
G Foxp2 forkhead box P2 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:22200994, PMID:23757202, PMID:24033266, PMID:28654958, PMID:30311386 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965 		JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:16450403, PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: hypotonia ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663 		JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:27435318, PMID:32286009 NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578 		JBrowse link
G Heatr4 HEAT repeat containing 4 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:107,423,214...107,460,450
Ensembl chr 6:107,423,218...107,461,041 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:21378380, PMID:28400947, PMID:28492532, PMID:30311386 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:14681881, PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868, PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Decreased muscle tone		 CTD
ClinVar		 PMID:22544363, PMID:22544367, PMID:30311386 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411 		JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 2:38,145,507...38,208,765
Ensembl chr 2:38,147,601...38,208,719 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Muscle hypotonia
ClinVar Annotator: match by term: Decreased muscle tone		 ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827 		JBrowse link
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:20199538, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:23541342, PMID:30311386 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Decreased muscle tone		 CTD
ClinVar		 PMID:14706454, PMID:30311386 NCBI chr14:82,227,790...82,267,298
Ensembl chr14:82,227,708...82,267,350 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:28211240, PMID:28492532, PMID:30311386 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:2526018, PMID:10739751, PMID:11102973, PMID:11180602, PMID:15060110, PMID:15770669, PMID:16585054, PMID:18478590, PMID:18795223, PMID:18926329, PMID:19875404, PMID:20497714, PMID:20848652, PMID:21831885, PMID:21980471, PMID:22177269, PMID:22199124, PMID:22276265, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23349452, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24623722, PMID:25025039, PMID:25448463, PMID:25637381, PMID:25741868, PMID:25873806, PMID:26467025, PMID:26498160, PMID:27000522, PMID:27153395, PMID:27447704, PMID:27896284, PMID:28087566, PMID:28492532, PMID:28663758, PMID:28701371, PMID:28807990, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:23122589, PMID:23527195, PMID:23891469, PMID:28492532, PMID:30311386 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667 		JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804 		JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:18425620, PMID:18946002, PMID:18957892, PMID:20008656, PMID:21326314, PMID:21531138, PMID:21840889, PMID:22492563, PMID:24088041, PMID:25025039, PMID:25741868, PMID:26307494, PMID:26382835, PMID:26633545, PMID:28492532, PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:15464186, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:30311386 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Decreased muscle tone
ClinVar Annotator: match by term: Muscle hypotonia		 ClinVar PMID:23929671, PMID:25741868, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967 		JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 2:145,011,648...145,513,439 JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720 		JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:7633431, PMID:10712197, PMID:16944272, PMID:18484666, PMID:22108604, PMID:23913538, PMID:25293717, PMID:25741868, PMID:26962827, PMID:26969325, PMID:28492532, PMID:30311386, PMID:31533797 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr20:41,106,990...41,209,765
Ensembl chr20:41,106,991...41,209,728 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871, PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Generalized hypotonia
ClinVar Annotator: match by term: Decreased muscle tone		 ClinVar PMID:1679030, PMID:8088845, PMID:8098245, PMID:8268925, PMID:8889590, PMID:9399896, PMID:9521426, PMID:10472529, PMID:10479481, PMID:11180595, PMID:11461190, PMID:12409276, PMID:12501224, PMID:12655552, PMID:15557004, PMID:16879198, PMID:17935162, PMID:19292873, PMID:19394257, PMID:21147011, PMID:21871829, PMID:21953985, PMID:22300847, PMID:22513348, PMID:22763404, PMID:23430547, PMID:23500595, PMID:23792259, PMID:24048906, PMID:25596310, PMID:25741868, PMID:26322415, PMID:26666653, PMID:26803807, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 1:166,534,643...166,626,158
Ensembl chr 1:166,534,643...166,626,158 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:16133180, PMID:27225849, PMID:28492532, PMID:30311386 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:19862844, PMID:21541725, PMID:28492532, PMID:30311386 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:24033266, PMID:25741868, PMID:25856668, PMID:28152038, PMID:28492532, PMID:30311386 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 7:71,294,140...71,356,153
Ensembl chr 7:71,293,388...71,356,153 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:1760348, PMID:10064593, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:32004447 NCBI chr 6:76,386,971...76,661,530
Ensembl chr 6:76,396,784...76,608,864 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Muscle hypotonia
ClinVar Annotator: match by term: Muscular hypotonia		 ClinVar PMID:25741868, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular hypotonia
ClinVar Annotator: match by term: Decreased muscle tone
ClinVar Annotator: match by term: Muscle hypotonia		 ClinVar PMID:4149045, PMID:8661021, PMID:9199552, PMID:16163667, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16917943, PMID:18765655, PMID:19685112, PMID:20142353, PMID:20583297, PMID:20839240, PMID:21157159, PMID:21911697, PMID:23394784, PMID:23553484, PMID:23919265, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:26381711, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111 		JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:30311386 NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504 		JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:30311386 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:30311386 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868, PMID:30311386 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706 		JBrowse link
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453 		JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:30311386 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854 		JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 4:144,638,782...144,869,961
Ensembl chr 4:144,638,335...144,869,919 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:30311386 NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 7:123,670,135...123,767,797
Ensembl chr 7:123,671,028...123,767,797 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:24033266, PMID:25741868, PMID:26729329 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:24033266, PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:30311386 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868, PMID:30275004 NCBI chr20:4,993,539...5,008,259
Ensembl chr20:4,993,560...5,008,262 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:1024343, PMID:30311386 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Decreased muscle tone
ClinVar Annotator: match by term: Neonatal hypotonia		 ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:30311386 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737 		JBrowse link
Muscle Rigidity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:30311386 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436 		JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:1348297, PMID:1897529, PMID:1899336, PMID:1971142, PMID:2117855, PMID:2309702, PMID:2569551, PMID:3353383, PMID:7789963, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:9554746, PMID:10796875, PMID:14757438, PMID:15146461, PMID:16293621, PMID:17395504, PMID:17427031, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19846850, PMID:20662857, PMID:20947659, PMID:20980259, PMID:21472771, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22451204, PMID:22592100, PMID:22968580, PMID:23676350, PMID:24033266, PMID:24756352, PMID:25249066, PMID:25456120, PMID:25653295, PMID:25741868, PMID:26096741, PMID:26868973, PMID:26905200, PMID:28492532, PMID:28779532, PMID:28923368, PMID:29527153, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle rigidity		 CTD
ClinVar		 PMID:17368676, PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:3378364, PMID:10521290, PMID:11333381, PMID:12955717, PMID:12974729, PMID:15465421, PMID:16126423, PMID:17160617, PMID:25236789, PMID:28492532, PMID:30311386 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683 		JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:10675796 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097 		JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:8036282 NCBI chr 7:44,111,594...44,120,998
Ensembl chr 7:44,111,151...44,121,130 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:25741868, PMID:30311386, PMID:31153663 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:11575529, PMID:15448513, PMID:16917943, PMID:19648156, PMID:28492532, PMID:30236257, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		JBrowse link
Muscle Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2a adrenoceptor alpha 2A IEP RGD PMID:21871540 RGD:6480106 NCBI chr 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:8533761, PMID:8845168, PMID:10737121, PMID:12163078, PMID:25741868, PMID:25749817, PMID:26467025, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17220914 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25741868 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039 		JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:30311386 NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25741868, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:30311386 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25025039 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:10699187, PMID:11809724, PMID:11843700, PMID:15841487, PMID:20214791, PMID:20718791, PMID:20932283, PMID:22960362, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268 		JBrowse link
Muscle Weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness		 CTD
ClinVar		 PMID:10996775, PMID:25741868, PMID:30311386 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021 		JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:1670590, PMID:1671769, PMID:7815434, PMID:7825603, PMID:8095918, PMID:8455580, PMID:8962139, PMID:9090526, PMID:9096767, PMID:9600244, PMID:10477432, PMID:11456299, PMID:15952986, PMID:18786133, PMID:20301309, PMID:21167507, PMID:25741868, PMID:26462614, PMID:28492532, PMID:30311386 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:10544227, PMID:14962673, PMID:18483695, PMID:21454443, PMID:21682854, PMID:22484412, PMID:22494076, PMID:24253677, PMID:25741868, PMID:28392828, PMID:28492532, PMID:29482223, PMID:30097039, PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:14578192, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:28492532, PMID:30311386 NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19309692, PMID:20576434, PMID:20976770, PMID:21280092, PMID:24033266, PMID:24314752, PMID:25535305, PMID:25741868, PMID:26467025, PMID:27447704, PMID:28492532 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular weakness		 CTD
ClinVar		 PMID:23352160, PMID:23871722, PMID:25741868, PMID:26467025, PMID:26743743, PMID:26930420, PMID:26990548, PMID:28492532, PMID:30311386, PMID:30415094 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:11741828, PMID:12666124, PMID:14647208, PMID:15060126, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18593008, PMID:18639457, PMID:19820980, PMID:19835634, PMID:19900540, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:28492532, PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Muscular weakness
ClinVar Annotator: match by term: Muscle weakness		 ClinVar PMID:9778264, PMID:19491146, PMID:23430498, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:14561495, PMID:17039978, PMID:17433678, PMID:18504680, PMID:18991200, PMID:19500985, PMID:20232219, PMID:25231362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977 		JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:2526018, PMID:10739751, PMID:11102973, PMID:11180602, PMID:15060110, PMID:15770669, PMID:16585054, PMID:18478590, PMID:18795223, PMID:18926329, PMID:19875404, PMID:20497714, PMID:20848652, PMID:21831885, PMID:21980471, PMID:22177269, PMID:22199124, PMID:22276265, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23349452, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24623722, PMID:25025039, PMID:25448463, PMID:25637381, PMID:25741868, PMID:25873806, PMID:26467025, PMID:26498160, PMID:27000522, PMID:27153395, PMID:27447704, PMID:27896284, PMID:28087566, PMID:28492532, PMID:28663758, PMID:28701371, PMID:28807990, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286 		JBrowse link
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074 		JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness		 CTD
ClinVar		 PMID:15111675 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:10364515, PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscle weakness
ClinVar Annotator: match by term: Muscular weakness		 ClinVar PMID:4149045, PMID:8661021, PMID:9199552, PMID:16163667, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16917943, PMID:18765655, PMID:19685112, PMID:20142353, PMID:20583297, PMID:20839240, PMID:21157159, PMID:23394784, PMID:23553484, PMID:23919265, PMID:25741868, PMID:25747005, PMID:26381711, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868, PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:8528245, PMID:12039972, PMID:17329572, PMID:18391953, PMID:21415153, PMID:22009145, PMID:23328711, PMID:24033266, PMID:25741868, PMID:26921350, PMID:28492532 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:18067136, PMID:18079167, PMID:23121729, PMID:24833714, PMID:25741868, PMID:27071356, PMID:28492532, PMID:30311386 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:30311386 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO Diaphragm Weakness RGD PMID:21097524 RGD:5130943 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633 		JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17444505 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268 		JBrowse link
muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021 		JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEP mRNA:decreased expression:skeletal muscle tissue RGD PMID:17029665 RGD:2325745 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192 		JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO RGD PMID:23792145 RGD:10059412 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868, PMID:31227654 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155 		JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased phosphorylation:gastrocnemius (rat) RGD PMID:24711688 RGD:11570530 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19032942 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786 		JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:17916675 RGD:7257536 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IDA RGD PMID:21235761 RGD:5130936 NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372 		JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:soleus (rat) RGD PMID:16928772 RGD:2315576 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279 		JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464 		JBrowse link
G Dmd dystrophin IEP RGD PMID:12107060 RGD:625642 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Endog endonuclease G IEP RGD PMID:15650125 RGD:9685359 NCBI chr 3:8,741,833...8,744,414
Ensembl chr 3:8,741,766...8,744,592 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:30311386 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944 		JBrowse link
G Fbxo32 F-box protein 32 IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:21139329, PMID:11679633 RGD:633893 NCBI chr 7:98,065,664...98,098,071
Ensembl chr 7:98,063,735...98,098,268 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8937196 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180 		JBrowse link
G Ghr growth hormone receptor IEP mRNA:increased expression:soleus RGD PMID:12865352 RGD:2307376 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:21983076 RGD:10402941 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 IEP mRNA:decreased expression:soleus muscle (rat) RGD PMID:21639837 RGD:5686383 NCBI chr 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723379 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:2526018, PMID:10739751, PMID:11102973, PMID:11180602, PMID:15060110, PMID:15770669, PMID:16585054, PMID:18478590, PMID:18795223, PMID:18926329, PMID:19875404, PMID:20497714, PMID:20848652, PMID:21831885, PMID:21980471, PMID:22177269, PMID:22199124, PMID:22276265, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23349452, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24623722, PMID:25025039, PMID:25448463, PMID:25637381, PMID:25741868, PMID:25873806, PMID:26467025, PMID:26498160, PMID:27000522, PMID:27153395, PMID:27447704, PMID:27896284, PMID:28087566, PMID:28492532, PMID:28663758, PMID:28701371, PMID:28807990, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Mstn myostatin IEP associated with Addison's Disease
mRNA, protein:altered expression:skeletal muscle		 RGD PMID:15738643, PMID:15758361 RGD:2303596, RGD:2303594 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915 		JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724 		JBrowse link
G Mtmr4 myotubularin related protein 4 IEP protein:decreased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr10:74,886,600...74,909,532
Ensembl chr10:74,886,985...74,909,533 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:19260063 RGD:10041027 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase IEP protein:increased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr 8:79,323,408...79,408,842
Ensembl chr 8:79,323,408...79,408,833 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP protein:altered expression:nucleus RGD PMID:17622304 RGD:4892297 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336 		JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA protein:decreased localization:soleus, nucleus RGD PMID:11919155 RGD:7777164 NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:decreased expression, decreased phosphorylation:soleus RGD PMID:17885021 RGD:1642984 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:4149045, PMID:8661021, PMID:9199552, PMID:16163667, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16917943, PMID:18765655, PMID:19685112, PMID:20142353, PMID:20583297, PMID:20839240, PMID:21157159, PMID:23394784, PMID:23553484, PMID:23919265, PMID:25741868, PMID:25747005, PMID:26381711, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:muscle RGD PMID:19574431 RGD:4144861 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Sgca sarcoglycan, alpha IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24163136 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Tfrc transferrin receptor IEP mRNA:decreased expression:gastrocnemius RGD PMID:18395385 RGD:2292027 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 IEP associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:14718385 RGD:1641826 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698 		JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 IEP RGD PMID:20943961 RGD:13463487 NCBI chr16:8,324,038...8,350,067
Ensembl chr16:8,324,036...8,350,067 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24534773 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 IEP RGD PMID:20943961 RGD:13463487 NCBI chr19:59,863,421...59,873,411
Ensembl chr19:59,863,421...59,873,411 		JBrowse link
G Trim63 tripartite motif containing 63 IEP
ISO		 mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism		 CTD PMID:21139329, PMID:11679633 RGD:633893 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744 		JBrowse link
G Ucp3 uncoupling protein 3 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24550007 NCBI chr 2:147,577,149...147,693,033
Ensembl chr 2:147,577,089...147,693,082 		JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar PMID:27484770, PMID:27485408 NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014 		JBrowse link
G Ephb1 Eph receptor B1 ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar PMID:27484770, PMID:27485408 NCBI chr 8:110,376,954...110,813,193
Ensembl chr 8:110,376,954...110,813,000 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar
OMIM		 PMID:27484770, PMID:27485408 NCBI chr 8:110,982,777...111,022,666
Ensembl chr 8:110,982,777...111,022,385 		JBrowse link
Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
IAGP		 ClinVar Annotator: match by term: Myokymia ClinVar PMID:26467025, PMID:28492532, PMID:22206926 RGD:10047237 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526 		JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
myopathy with extrapyramidal signs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micu1 mitochondrial calcium uptake 1 ISO ClinVar Annotator: match by term: Myopathy with extrapyramidal signs OMIM
ClinVar		 PMID:24336167, PMID:25741868, PMID:28708303, PMID:29721912 NCBI chr20:29,284,833...29,433,617
Ensembl chr20:29,284,853...29,432,258 		JBrowse link
Myotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Myotonia
ClinVar Annotator: match by term: Percussion myotonia		 ClinVar PMID:7581380, PMID:7874130, PMID:8533761, PMID:8845168, PMID:8857727, PMID:9566422, PMID:9736777, PMID:10051520, PMID:10430417, PMID:10644771, PMID:10665666, PMID:10690989, PMID:10962018, PMID:11408615, PMID:11840191, PMID:11933197, PMID:12390967, PMID:15162127, PMID:15311340, PMID:15980168, PMID:17107341, PMID:17654559, PMID:17932099, PMID:17990293, PMID:18337100, PMID:18337730, PMID:18807109, PMID:20301529, PMID:21221019, PMID:21698652, PMID:22094069, PMID:22197187, PMID:22407275, PMID:22521272, PMID:22641783, PMID:22649220, PMID:22995991, PMID:23097607, PMID:23113340, PMID:23152584, PMID:23225051, PMID:23739125, PMID:23893571, PMID:23933576, PMID:24033266, PMID:24037712, PMID:24088041, PMID:24304580, PMID:24349310, PMID:24452722, PMID:25036107, PMID:25741868, PMID:26096614, PMID:26467025, PMID:26510092, PMID:26633545, PMID:27142102, PMID:27199537, PMID:27266866, PMID:27296017, PMID:27614575, PMID:28427807, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819 		JBrowse link
G Dmpk DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364 		JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24039817 NCBI chr 2:150,698,248...150,867,791
Ensembl chr 2:150,756,185...150,869,690 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Myotonia ClinVar PMID:30311386 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myotonia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myotonia		 CTD
ClinVar		 PMID:8308722, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA OMIM
ClinVar		 PMID:25741868, PMID:31372774, PMID:31668703, PMID:31692205 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ClinVar
OMIM		 PMID:28763441 NCBI chr 5:24,446,002...24,493,819
Ensembl chr 5:24,445,886...24,493,670 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s)