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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:Muscle Hypotonia
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Accession:DOID:9005603 term browser browse the term
Definition:A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Synonyms:exact_synonym: Decreased Muscle Tone;   Flaccid Muscle Tone;   Floppy Muscle;   Floppy Muscles;   Hypomyotonia;   Hypotonia;   Hypotonias, Unilateral;   Muscle Flaccidity;   Muscle Hypotony;   Muscle Tone Atonic;   Muscle Tone Atonics;   Muscle Tone Poor;   Muscular Flaccidities;   Muscular Flaccidity;   Muscular Hypotonia;   Neonatal Hypotonia;   Neonatal Hypotonias;   Unilateral Hypotonia
 narrow_synonym: GENERALIZED HYPOTONIA
 primary_id: MESH:D009123;   RDO:0000361
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Muscle Hypotonia term browser
Symbol Object Name 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 Gan gigaxonin ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
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 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 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
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 Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
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
3-M syndrome term browser
Symbol Object Name 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 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-Yuan Syndrome term browser
Symbol Object Name 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 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 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
Birk-Barel syndrome term browser
Symbol Object Name 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 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
Cohen syndrome term browser
Symbol Object Name 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
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name 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 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 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 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 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
Early Infantile Epileptic Encephalopathy, 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM
ClinVar
PMID:9463366, PMID:9729469, PMID:10373468, PMID:11418246, PMID:22265715, PMID:24463883, PMID:24852103, PMID:25558065, PMID:25851949, PMID:27513193, PMID:28492532, PMID:30311386, PMID:31148362 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
FG syndrome term browser
Symbol Object Name 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 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 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 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 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:25326637, 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 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 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 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 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 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
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name 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 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 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 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 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
ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
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:23749988, PMID:24075186 RGD:12911215, RGD:12914762 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 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 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 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:25741868, PMID:30905399 NCBI chr12:10,496,273...10,561,335 JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name 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 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:32165824, 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
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158, PMID:21387466, PMID:22585553, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:8002831, PMID:9054934, PMID:9295268, PMID:9781034, PMID:9973280, PMID:10090887, PMID:11017087, PMID:11919200, PMID:12037008, PMID:12796258, PMID:14709597, PMID:15494742, PMID:16103129, PMID:16546111, PMID:18285826, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20696155, PMID:21786275, PMID:22025579, PMID:22264887, PMID:22312191, PMID:22427542, PMID:22661473, PMID:23769331, PMID:24033266, PMID:24265693, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25640233, PMID:25712131, PMID:25741868, PMID:25921964, PMID:26527198, PMID:26593885, PMID:27491360, PMID:27535533, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29555955, PMID:29847635, PMID:30060493, PMID:30311386, PMID:30718709, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
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
Kilquist Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO OMIM NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name 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 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 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 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
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name 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 HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS OMIM
ClinVar
PMID:30929742 NCBI chr10:55,675,171...55,679,405
Ensembl chr10:55,675,575...55,679,450
JBrowse link
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigk phosphatidylinositol glycan anchor biosynthesis, class K ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES ClinVar
OMIM
PMID:32220290 NCBI chr 2:257,911,099...257,997,735
Ensembl chr 2:257,911,126...257,997,733
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM
PMID:25741868, PMID:31353023 NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES ClinVar
OMIM
PMID:25741868, PMID:32220291 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar
OMIM
PMID:25741868, PMID:27389779 NCBI chr 9:60,451,476...60,843,160
Ensembl chr 9:60,457,215...60,672,246
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868, PMID:31668703 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock3 dedicator of cyto-kinesis 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA ClinVar
OMIM
PMID:10854253, PMID:10884317, PMID:12432077, PMID:12566533, PMID:14569117, PMID:14682358, PMID:15234347, PMID:15284851, PMID:15494731, PMID:15829629, PMID:17046689, PMID:17055478, PMID:17911219, PMID:19129390, PMID:20368433, PMID:24870542, PMID:24896178, PMID:25016980, PMID:25348405, PMID:25599672, PMID:25741868, PMID:28139846, PMID:28195318, PMID:28492532, PMID:29130632, PMID:30976111 NCBI chr 8:115,627,282...115,982,260
Ensembl chr 8:115,629,583...115,981,910
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868, PMID:31079899 NCBI chr 3:57,817,677...57,868,854
Ensembl chr 3:57,817,693...57,868,854
JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
ClinVar
OMIM
PMID:25741868, PMID:26539891, PMID:28211990, PMID:28334956 NCBI chr 2:196,427,714...196,457,105
Ensembl chr 2:196,427,710...196,456,481
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ClinVar
OMIM
PMID:27435318, PMID:28097321, PMID:32286009 NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
JBrowse link
Osteosclerotic Metaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
JBrowse link
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ClinVar
OMIM
PMID:25741868, PMID:29053800, PMID:31727539 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
OMIM
PMID:25741868, PMID:27666369 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by OMIM:181270 OMIM
ClinVar
PMID:1799422, PMID:8042668, PMID:9383029, PMID:10517259, PMID:16411189, PMID:23541344 NCBI chr18:6,374,778...6,474,990
Ensembl chr18:6,374,778...6,474,990
JBrowse link
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou3f3 POU class 3 homeobox 3 ISO ClinVar Annotator: match by term: SNIJDERS BLOK-FISHER SYNDROME OMIM
ClinVar
PMID:25741868, PMID:31303265 NCBI chr 9:49,479,148...49,482,246
Ensembl chr 9:49,479,023...49,482,252
JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE OMIM
ClinVar
PMID:1314961, PMID:1332433 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
Three M Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Three M syndrome 1 ClinVar
OMIM
PMID:16142236, PMID:19225462, PMID:21396581, PMID:24793695, PMID:24793696, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30980518 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 ClinVar Annotator: match by term: Three M syndrome 1 ClinVar PMID:30980518 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Three M syndrome 2
ClinVar Annotator: match by OMIM:612921
OMIM
ClinVar
PMID:16531729, PMID:17681982, PMID:19481195, PMID:19877176, PMID:20164589, PMID:25741868, PMID:25923536, PMID:27796265, PMID:28492532, PMID:28969986 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link
Three M Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by OMIM:614205 OMIM
ClinVar
PMID:21737058 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Signs and Symptoms 5266
        Neurologic Manifestations 4214
          Neuromuscular Manifestations 486
            Muscle Hypotonia 220
              3-M syndrome + 3
              Al-Raqad Syndrome 1
              Alazami-Yuan Syndrome 1
              Allan-Herndon-Dudley syndrome 1
              Atonic-Astatic Syndrome of Foerster 0
              Birk-Barel syndrome 1
              CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
              Carnitine Acetyltransferase Deficiency 1
              Cohen syndrome 2
              Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
              Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
              De Hauwere syndrome 0
              Der Kaloustian Mcintosh Silver Syndrome 0
              Desanto-Shinawi Syndrome 1
              Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
              Emanuel Syndrome 0
              Ethanolaminosis 0
              FG syndrome + 7
              GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
              German Syndrome 0
              Grubben de Cock Borghgraef Syndrome 0
              HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
              HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
              Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
              Hypotonia, Seizures, and Precocious Puberty 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
              Infantile Hypotonia with Psychomotor Retardation + 4
              Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
              Joubert syndrome 10 1
              Joubert syndrome 3 2
              Joubert syndrome 5 3
              Ketoadipicaciduria 0
              Kilquist Syndrome 1
              Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
              NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
              NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
              Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
              Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 1
              Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
              Osteosclerotic Metaphyseal Dysplasia 1
              PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL 1
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
              Qazi Markouizos syndrome 0
              SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
              Snijders Blok-Fisher Syndrome 1
              Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
              autosomal dominant mental retardation 20 1
              combined oxidative phosphorylation deficiency 3 2
              fumarase deficiency 7
              glycogen storage disease IX + 4
              hypotonia-cystinuria syndrome 4
              multiple congenital anomalies-hypotonia-seizures syndrome + 6
              scalp-ear-nipple syndrome 1
paths to the root

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