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


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)