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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


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Neuromuscular Manifestations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:30476904 NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:75,418,218...75,668,696 		JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: therapeutic CTD PMID:30476904 NCBI chr13:67,924,872...68,051,986
Ensembl chr13:67,924,872...68,051,986 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17023870 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 PMID:8503454 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
3-M syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome 		CTD
ClinVar		 PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21396581 More... NCBI chr 9:21,816,703...21,830,344
Ensembl chr 9:21,816,703...21,830,344 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar PMID:25741868 NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415 		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 | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More... NCBI chr 8:41,729,507...41,782,222
Ensembl chr 8:41,724,563...41,782,222 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32017898 More... NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:22,169,570...22,178,031
Ensembl chr12:22,168,718...22,177,938 		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
ISS 		ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy | ClinVar Annotator: match by term: SLC16A2-related condition
OMIM:300523
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:72,791,096...72,914,299
Ensembl chr  X:72,781,876...72,914,498 		JBrowse link
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition OMIM
ClinVar		 PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914 NCBI chr15:87,668,328...87,674,643
Ensembl chr15:87,668,328...87,674,643 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,268,385...6,280,565 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:43,468,556...43,665,819
Ensembl chr12:43,468,556...43,665,819 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Okamoto syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:117,132,649...117,139,289 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:117,133,494...117,136,207 		JBrowse link
autosomal recessive intellectual developmental disorder 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:153,775,351...153,790,129
Ensembl chr 3:153,775,338...153,790,916 		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 CTD Direct Evidence: marker/mechanism
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 Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of 		CTD
OMIM
ClinVar		 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 ClinVar NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia OMIM
ClinVar		 PMID:2753503 PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 More... NCBI chr 3:188,572,345...188,631,391
Ensembl chr 3:188,572,926...188,631,302 		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 Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome | ClinVar Annotator: match by term: KCNK9-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chr 7:106,316,783...106,362,452
Ensembl chr 7:106,326,684...106,361,921 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chr 1:229,099,741...229,984,172
Ensembl chr 1:229,099,542...229,984,172 		JBrowse link
Brunet-Wagner neurodevelopmental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbl2 RB transcriptional corepressor like 2 ISO ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome | ClinVar Annotator: match by term: RBL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32105419 NCBI chr19:32,049,690...32,096,467
Ensembl chr19:32,049,691...32,096,411 		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:28492532 PMID:31448845 NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099 		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: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: TRDN-related condition | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness OMIM
ClinVar		 PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:22422768 More... NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome 		CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736 		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: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:54,189,157...54,210,685
Ensembl chr10:54,189,157...54,207,272 		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 Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25482530 PMID:25741868 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543 		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 chr10:57,810,781...57,882,495
Ensembl chr10:57,810,781...57,882,495 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28767289 More... NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Sacs sacsin molecular chaperone ISO
ISS 		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
OMIM:270550
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,564,920...39,611,149
Ensembl chr15:39,564,923...39,611,149 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		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: GLRX5-related condition | ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia OMIM
ClinVar		 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		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:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 More... NCBI chr14:9,245,777...9,265,784
Ensembl chr14:9,245,803...9,265,783 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:18319074 PMID:19440741 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378 		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 chr19:10,172,943...10,185,960
Ensembl chr19:10,172,949...10,185,937 		JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:25741868 PMID:28492532 NCBI chr17:89,964,768...90,006,819
Ensembl chr17:89,968,034...90,006,817 		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 chr20:48,291,788...48,520,846
Ensembl chr20:48,291,797...48,535,689 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,532,303...69,553,311
Ensembl chr 7:69,532,304...69,545,421 		JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,719,326...71,757,191
Ensembl chr 7:71,719,404...71,757,184 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,539,711...71,566,515
Ensembl chr 7:71,539,711...71,566,515 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,803,640...71,877,608
Ensembl chr 7:71,774,898...71,879,261 		JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,014,410...69,027,145
Ensembl chr 7:69,014,417...69,027,166 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,007,372...72,017,654
Ensembl chr 7:72,007,372...72,017,654 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,045,828...72,081,039
Ensembl chr 7:72,045,872...72,083,629 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,692,364...72,706,983
Ensembl chr 7:72,671,477...72,707,009 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,707,566...72,814,183
Ensembl chr 7:72,721,048...72,814,142 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,218,298...69,231,873
Ensembl chr 7:69,218,299...69,230,310 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,939,916...71,971,685
Ensembl chr 7:71,939,973...71,971,680 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,280,360...70,415,277
Ensembl chr 7:70,285,310...70,415,274 		JBrowse link
G Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:67,907,492...67,913,562
Ensembl chr 7:67,906,467...67,931,276 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,352,612...71,358,680
Ensembl chr 7:71,350,573...71,358,948 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,825,979...72,897,308
Ensembl chr 7:72,825,979...72,897,171 		JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:68,747,106...68,747,178 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,417,683...70,849,763
Ensembl chr 7:70,419,433...70,849,482 		JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,659,628...67,771,105
Ensembl chr 7:67,659,628...67,769,959 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,262,270...71,274,621
Ensembl chr 7:71,266,838...71,274,620 		JBrowse link
G Osr2 odd-skipped related transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:68,372,500...68,380,195
Ensembl chr 7:68,373,049...68,380,805 		JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:69,663,068...69,675,050 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,241,233...69,244,579
Ensembl chr 7:69,232,179...69,244,578 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,590,502...67,618,187
Ensembl chr 7:67,590,522...67,618,293 		JBrowse link
G Rgs22 regulator of G-protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,073,681...69,194,041
Ensembl chr 7:69,075,562...69,194,102 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,133,004...72,644,059
Ensembl chr 7:72,133,170...72,645,499 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:69,310,947...69,350,225 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,024,535...72,045,692
Ensembl chr 7:72,007,975...72,045,647 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,560,948...69,662,015
Ensembl chr 7:69,553,205...69,617,396 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:69,246,301...69,306,483
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:67,938,341...68,208,472
Ensembl chr 7:67,938,378...68,208,508 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:71,000,197...71,109,813 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS 		ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8325895 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,826,404...69,848,702
Ensembl chr 7:69,826,404...69,849,007 		JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,050,960...70,059,588
Ensembl chr 7:70,052,534...70,059,159 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 		CTD
ClinVar		 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More... NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970 		JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		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: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:21828050 PMID:25741868 PMID:27392078 PMID:30300710 PMID:31230720 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		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 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064 		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: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21828050 PMID:25741868 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		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: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:64,711,403...64,729,436 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:64,714,036...64,750,171 		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: ATN1-related condition | ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies OMIM
ClinVar		 PMID:17067864 PMID:25741868 PMID:30827498 PMID:39825153 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome 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 OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		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: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chr17:60,617,702...60,677,771
Ensembl chr17:60,617,544...60,679,267 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:64,300,953...64,326,332 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO
ISS 		OMIM:300607
ClinVar Annotator: match by term: ARHGEF9-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:63,929,168...64,087,267
Ensembl chr  X:63,929,176...64,087,104 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,338,223...64,487,615
Ensembl chr  X:64,338,225...64,425,500 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:64,535,241...64,556,042 		JBrowse link
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities | ClinVar Annotator: match by term: GOLGA2-related condition OMIM
ClinVar		 PMID:25741868 PMID:30237576 PMID:34424553 NCBI chr 3:35,981,783...36,002,023
Ensembl chr 3:35,981,499...36,002,022 		JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:30510140 More... NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:172,447,738...172,609,591 		JBrowse link
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities OMIM
ClinVar		 PMID:10615133 PMID:11522779 PMID:18414213 PMID:20358590 PMID:20702822 More... NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265 		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 OMIM
ClinVar		 PMID:25741868 PMID:31412107 NCBI chr14:33,477,968...33,480,320
Ensembl chr14:33,477,968...33,480,320 		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 Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition 		ClinVar PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:9054436 More... NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Myh8 myosin heavy chain 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) 		OMIM
CTD
ClinVar
RGD		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105 		JBrowse link
Dyskinesia with Orofacial Involvement 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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:24700542 PMID:25741868 PMID:26085604 PMID:26537056 PMID:28492532 More... NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343 		JBrowse link
Dyskinesia with Orofacial Involvement, Autosomal Dominant 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 with orofacial involvement, autosomal dominant OMIM
ClinVar		 PMID:152174 PMID:1003446 PMID:11310626 PMID:11445636 PMID:16199547 More... NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343 		JBrowse link
Dyskinesia with Orofacial Involvement, Autosomal Recessive 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 with orofacial involvement, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28971144 PMID:30975617 NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343 		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 susceptibility ISO DNA:missense mutation:exon: p.R212C (c.634C>T) (human)
ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 More... RGD:12879478 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742 		JBrowse link
episodic ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:161,374,407...161,400,230 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:160,200,471...160,541,830
Ensembl chr 4:160,182,152...160,541,821 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,401,580...161,443,816
Ensembl chr 4:161,401,580...161,443,791 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:161,541,089...161,553,521 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,307,603...161,336,485 JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
ISS
IAGP 		ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
OMIM:160120
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2245301 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 More... RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044 		JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:21858020 PMID:28492532 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:161,445,512...161,458,680 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:161,613,306...161,632,229 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		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 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Tongue fasciculations ClinVar PMID:25741868 NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940 		JBrowse link
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc7 anaphase promoting complex subunit 7 ISO ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:34942119 NCBI chr12:39,793,518...39,821,614
Ensembl chr12:39,794,349...39,821,066 		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)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:25741868 PMID:19200522 RGD:11576290 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human) 		CTD
ClinVar
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:70,425,563...70,432,120 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:70,541,862...70,549,843 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:70,435,343...70,439,161 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,612,118...70,617,158
Ensembl chr  X:70,612,521...70,617,158 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:70,469,457...70,497,379 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:70,593,888...70,611,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,250,089...70,256,610
Ensembl chr  X:70,250,099...70,256,059 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,267,013...70,396,948
Ensembl chr  X:70,381,837...70,397,164 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:70,680,906...70,756,735 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:69,973,012...70,236,544
Ensembl chr  X:69,972,723...70,236,011 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,568,573...70,584,221
Ensembl chr  X:70,568,573...70,584,768 		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 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		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: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		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 More... NCBI chr13:90,141,880...90,152,097
Ensembl chr13:90,131,514...90,151,265 		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 More... NCBI chr13:90,341,947...90,366,861
Ensembl chr13:90,342,018...90,366,861 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627 		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 More... NCBI chr13:90,089,340...90,121,108
Ensembl chr13:90,089,463...90,125,151 		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 More... NCBI chr13:90,121,560...90,152,076
Ensembl chr13:90,121,560...90,152,076 		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 More... NCBI chr13:90,426,689...90,765,072
Ensembl chr13:90,428,490...90,783,066 		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 More... NCBI chr13:90,156,824...90,280,608
Ensembl chr13:90,156,862...90,279,233 		JBrowse link
glycogen storage disease IXA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:38,106,067...38,231,286
Ensembl chr  X:38,106,067...38,231,331 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,065,842...39,137,521
Ensembl chr  X:39,072,840...39,137,448 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:36,997,518...37,093,363
Ensembl chr  X:36,999,265...37,089,782 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,307,320...39,322,023
Ensembl chr  X:39,307,137...39,322,021 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:38,522,143...38,667,746
Ensembl chr  X:38,521,183...38,667,676 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,181,091...39,296,814
Ensembl chr  X:39,181,091...39,296,695 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:36,185,067...36,524,711
Ensembl chr  X:36,438,178...36,524,708 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP 		ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I | ClinVar Annotator: match by term: PHKA2-related condition
DNA:mutations:multiple
DNA:missense mutations:multiple 		OMIM
ClinVar
RGD		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:8733133 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:37,979,629...38,102,144 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,803,204...37,960,378
Ensembl chr  X:37,830,055...37,960,375 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:36,580,406...36,642,943
Ensembl chr  X:36,573,917...36,643,240 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:39,325,926...39,433,678 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:37,771,135...37,800,894 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:36,526,068...36,543,336
Ensembl chr  X:36,526,068...36,544,450 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,331,893...37,486,465
Ensembl chr  X:37,334,841...37,439,276 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:38,686,530...39,031,658
Ensembl chr  X:38,686,530...39,031,393 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:36,722,550...36,798,868
Ensembl chr19:36,722,575...36,793,993 		JBrowse link
G C19h16orf87 similar to human chromosome 16 open reading frame 87 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,800,187...37,827,091
Ensembl chr19:37,799,799...37,827,452 		JBrowse link
G Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,671,019...37,689,163
Ensembl chr19:37,670,945...37,690,120 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,700,023...37,734,551
Ensembl chr19:37,691,901...37,733,917 		JBrowse link
G Itfg1 integrin alpha FG-GAP repeat containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,383,982...37,504,523
Ensembl chr19:37,383,922...37,504,517 		JBrowse link
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,858,298...37,916,805
Ensembl chr19:37,865,141...37,915,827 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,931,085...37,938,856
Ensembl chr19:37,931,090...37,938,856 		JBrowse link
G Phkb phosphorylase kinase regulatory subunit beta ISO
ISS 		ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHKB-related condition | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
OMIM:261750
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr19:37,179,937...37,383,979
Ensembl chr19:37,186,042...37,383,877 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,938,989...37,974,887
Ensembl chr19:37,938,720...37,974,886 		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 term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr 1:191,614,738...191,627,615
Ensembl chr 1:191,614,865...191,627,616 		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
ISS 		ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition
OMIM:300559
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:71,639,701...71,778,465
Ensembl chr  X:71,641,246...71,778,320 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:37,979,629...38,102,144 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18h18orf32 similar to human chromosome 18 open reading frame 32 ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 OMIM
ClinVar		 PMID:28492532 PMID:35107634 NCBI chr18:70,861,434...70,869,983
Ensembl chr18:70,861,435...70,869,983 		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: IARS1-related condition OMIM
ClinVar		 PMID:24706940 PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 NCBI chr17:15,147,357...15,193,716
Ensembl chr17:15,147,357...15,193,652 		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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
Hengel-Maroofian-Schols syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome OMIM
ClinVar		 PMID:25741868 PMID:34022130 PMID:39825153 NCBI chr10:70,711,084...71,170,492
Ensembl chr10:70,711,525...71,170,803 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome 		CTD
OMIM
ClinVar		 PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 More... NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		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 PMID:28492532 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
hyperekplexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISS
ISO 		ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia | ClinVar Annotator: match by term: STIFF-MAN SYNDROME, CONGENITAL MouseDO
ClinVar		 PMID:10817489 PMID:11702206 PMID:11781706 PMID:16078201 PMID:20631190 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815 		JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:12684523 PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		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 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165 		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
ISS 		ClinVar Annotator: match by term: GLRA1-related condition | ClinVar Annotator: match by term: Hyperekplexia 1
OMIM:149400 		OMIM
ClinVar
MouseDO		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		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
ISS 		ClinVar Annotator: match by term: Hyperekplexia 2
OMIM:614619 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		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
ISS 		ClinVar Annotator: match by term: Hyperekplexia 3 | ClinVar Annotator: match by term: SLC6A5-related condition
OMIM:614618 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165 		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 OMIM
ClinVar		 PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 More... NCBI chr 1:239,957,329...240,023,792
Ensembl chr 1:239,957,882...240,009,822 		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: EBF3-related disorder | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome OMIM
ClinVar		 PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 More... NCBI chr 1:201,426,446...201,544,444
Ensembl chr 1:201,426,450...201,544,305 		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: CTBP1-related condition | ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar		 PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29758562 More... NCBI chr14:81,679,956...81,707,331
Ensembl chr14:81,679,765...81,707,554 		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
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:606407 		CTD
MouseDO		 PMID:26247364 NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:15,399,559...15,460,301
Ensembl chr 6:15,399,562...15,460,756 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:15,333,107...15,362,825
Ensembl chr 6:15,333,077...15,363,231 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775 		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: CCDC174-related condition | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26358778 PMID:28492532 NCBI chr 4:125,949,203...125,976,179
Ensembl chr 4:125,949,420...125,976,178 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 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 ClinVar PMID:25741868 NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 More... NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842 		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 | ClinVar Annotator: match by term: NALCN-related condition
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) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... RGD:12914762, RGD:12911215 NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 ClinVar PMID:25741868 NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842 		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 DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related disorder 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... RGD:11528248 NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842 		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: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chr 2:223,849,758...224,022,097
Ensembl chr 2:223,849,778...224,022,094 		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: CDK8-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30905399 PMID:33958710 PMID:38193604 NCBI chr12:13,851,024...13,919,017
Ensembl chr12:13,851,024...13,917,992 		JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar		 PMID:25741868 PMID:34314705 NCBI chr19:40,004,271...40,024,565
Ensembl chr19:40,004,275...40,024,187 		JBrowse link
intellectual disability and myopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome OMIM
ClinVar		 PMID:9536098 PMID:15034580 PMID:16199547 PMID:17576681 PMID:23861362 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348 		JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome 10 ClinVar PMID:25741868 NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
CTD Direct Evidence: marker/mechanism
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human) 		OMIM
ClinVar
CTD
RGD		 PMID:12595504 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 More... RGD:11535965, RGD:11535963 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		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
ISS 		DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: Joubert syndrome 3
OMIM:608629
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
OMIM
RGD		 PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804 		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 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		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
ISS 		ClinVar Annotator: match by term: Joubert syndrome 5
OMIM:610188
CTD Direct Evidence: marker/mechanism
DNA:SNPs:multiple (human)
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 More... NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470 		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: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17701898 PMID:25741868 PMID:28492532 PMID:37451268 PMID:38491417 NCBI chr 7:9,048,135...9,076,751
Ensembl chr 7:9,048,146...9,076,716 		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: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 NCBI chr12:15,824,431...15,858,266
Ensembl chr12:15,825,124...15,858,281 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:163,770,495...163,788,791 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		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:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501 		JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive 		CTD
ClinVar		 PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273 		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 OMIM
ClinVar		 PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273 		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
CTD Direct Evidence: marker/mechanism
DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9673985 PMID:17008331 PMID:17132147 PMID:18414213 PMID:20096397 More... RGD:11570558 NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Miyoshi myopathy 3 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253 		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:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379 		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 Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,374,101...23,408,779
Ensembl chr13:23,376,779...23,408,897 		JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,823,132...23,045,619
Ensembl chr13:22,823,132...23,045,619 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379 		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:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,321,495...22,417,371
Ensembl chr13:22,321,542...22,417,371 		JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:24,067,971...24,085,814
Ensembl chr13:24,068,040...24,085,802 		JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,819,416...23,859,240
Ensembl chr13:23,819,429...23,859,240 		JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,567,023...23,598,329
Ensembl chr13:23,567,023...23,598,329 		JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,633,220...23,665,100
Ensembl chr13:23,633,220...23,664,994 		JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:24,051,933...24,065,032
Ensembl chr13:24,056,021...24,065,031 		JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,788,758...23,795,298
Ensembl chr13:23,788,758...23,795,298 		JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,755,690...23,766,188
Ensembl chr13:23,756,118...23,766,341 		JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,500,203...23,520,401
Ensembl chr13:23,500,198...23,520,400 		JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,884,466...23,956,834
Ensembl chr13:23,910,306...23,956,834 		JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:24,141,557...24,164,894
Ensembl chr13:24,129,855...24,166,076 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,442,930...22,501,257
Ensembl chr13:22,442,665...22,501,257 		JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,421,758...23,446,848
Ensembl chr13:23,421,758...23,446,973 		JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,621,275...22,708,232
Ensembl chr13:22,634,171...22,708,464 		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 Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,925,458...33,972,851
Ensembl chr  X:33,925,458...33,971,596 		JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,204,601...34,230,819
Ensembl chr  X:34,204,603...34,228,529 		JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,646,389...33,669,790
Ensembl chr  X:33,624,394...33,669,934 		JBrowse link
G Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,588,484...33,633,285
Ensembl chr  X:33,588,484...33,624,397 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,859,128...33,921,876
Ensembl chr  X:33,859,129...33,921,874 		JBrowse link
G Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,106,553...34,166,651
Ensembl chr  X:34,067,403...34,166,653 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,993,825...34,027,124
Ensembl chr  X:33,993,825...34,027,181 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:33,035,387...33,051,808 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,052,063...33,105,550
Ensembl chr  X:33,052,004...33,107,635 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,740,428...33,851,049
Ensembl chr  X:33,740,429...33,851,049 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,704,582...33,740,305
Ensembl chr  X:33,706,055...33,740,167 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:15,447,080...15,463,088
Ensembl chr10:15,447,081...15,463,088 		JBrowse link
Muscle Cramp term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:28492532 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
Muscle Hypertonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcan brevican ISO Episodic falling, BCAN-related OMIA PMID:3680644 PMID:3716135 PMID:6868317 PMID:15971896 PMID:21821125 More... NCBI chr 2:175,752,333...175,765,766
Ensembl chr 2:175,752,336...175,765,314 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:2862618 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594 		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 chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:109,367,274...109,375,268
Ensembl chr 6:109,367,268...109,380,749 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:150,512,037...150,583,144 		JBrowse link
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 2:223,825,930...223,849,477
Ensembl chr 2:223,825,931...223,849,994 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chr  X:112,703,015...112,764,924
Ensembl chr  X:112,702,796...112,739,356 		JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chr12:52,077,863...52,110,775
Ensembl chr12:52,077,480...52,108,708 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:32581362 NCBI chr18:13,868,223...14,040,867
Ensembl chr18:13,868,674...14,037,373 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:10995512 PMID:21505078 PMID:22129561 PMID:25741868 PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Chd1 chromodomain helicase DNA binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 1:65,334,905...65,402,270
Ensembl chr 1:65,335,218...65,401,280 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:8364588 PMID:25741868 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO Associated with Down syndrome; DNA:SNP:CDS:rs2270669 (human) RGD PMID:23626599 RGD:401851041 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:127,893,207...127,910,818 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO RGD PMID:11230174 RGD:734884 NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:208,444,434...208,461,382 		JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 5:136,380,211...136,388,229
Ensembl chr 5:136,380,216...136,388,219 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr 1:201,426,446...201,544,444
Ensembl chr 1:201,426,450...201,544,305 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:22544365 PMID:23564332 PMID:23883322 PMID:23975261 PMID:24524299 More... NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:64,369,495...64,374,902 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25558065 PMID:27311568 NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:85,037,145...85,051,808 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr19:62,116,600...62,173,879
Ensembl chr19:62,116,600...62,163,083 		JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:9596582 PMID:22366783 PMID:24033266 PMID:25485910 PMID:25741868 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362 NCBI chr20:50,618,004...50,733,460
Ensembl chr20:50,618,004...50,733,466 		JBrowse link
G Heatr4 HEAT repeat containing 4 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:109,305,459...109,338,331
Ensembl chr 6:109,304,557...109,342,693 		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 1:116,009,681...116,243,888
Ensembl chr 1:116,040,736...116,243,884 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,268,385...6,280,565 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 More... NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr10:89,737,637...89,868,620
Ensembl chr10:89,737,637...89,868,620 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 NCBI chr 3:176,239,285...176,332,408
Ensembl chr 3:176,242,589...176,332,408 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:28492532 NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:81,167,268...81,206,776
Ensembl chr14:81,162,309...81,209,459 		JBrowse link
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 9:47,603,972...47,609,365
Ensembl chr 9:47,594,058...47,614,669 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 3:53,742,458...54,147,970
Ensembl chr 3:54,075,084...54,139,389 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 9:47,609,743...47,621,033
Ensembl chr 9:47,609,744...47,621,033 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr  X:139,445,834...139,458,169
Ensembl chr  X:139,445,834...139,458,169 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 6:6,234,917...6,252,874
Ensembl chr 6:6,234,922...6,252,961 		JBrowse link
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:27058446 PMID:32581362 NCBI chr 1:54,313,343...54,765,668
Ensembl chr 1:54,317,732...54,764,051 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:32467598 NCBI chr 1:165,235,623...165,327,466
Ensembl chr 1:165,235,623...165,327,466 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 More... NCBI chr18:28,159,103...28,179,539
Ensembl chr18:28,125,126...28,211,111 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:32004447 NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:78,701,832...78,987,486 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:16199547 PMID:23919265 PMID:25741868 PMID:25960145 PMID:28492532 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr  X:72,791,096...72,914,299
Ensembl chr  X:72,781,876...72,914,498 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Unilateral Hypotonia ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:19020799 PMID:19953625 PMID:21387466 PMID:21784453 PMID:23487764 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 4:178,512,272...179,467,686
Ensembl chr 4:178,512,272...178,938,495 		JBrowse link
G Sp9 Sp9 transcription factor ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:25741868 PMID:38288683 NCBI chr 3:78,554,345...78,556,875
Ensembl chr 3:78,554,206...78,558,072 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:35170016 PMID:35460704 NCBI chr14:32,400,603...32,414,987
Ensembl chr14:32,400,603...32,415,117 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 PMID:35321494 NCBI chr 4:149,743,216...149,776,388
Ensembl chr 4:149,699,693...149,776,369 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 3:66,758,805...66,769,626
Ensembl chr 3:66,759,803...66,769,626 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 7:115,833,523...116,009,790
Ensembl chr 7:115,834,416...115,931,915 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 Ensembl chr20:4,031,082...4,090,128 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Facial hypotonia ClinVar PMID:25741868 NCBI chr 8:53,308,264...53,336,800
Ensembl chr 8:53,308,303...53,336,794 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr10:7,335,508...7,432,018
Ensembl chr10:7,367,604...7,432,013 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:30275004 NCBI chr20:3,810,427...3,825,193
Ensembl chr20:3,810,429...3,824,951 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 More... NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465 		JBrowse link
Muscle Rigidity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:115,761,696...115,771,837 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17368676 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:10675796 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310 		JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:8036282 NCBI chr 7:39,451,484...39,460,888
Ensembl chr 7:39,451,073...39,460,961 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:28,009,841...28,244,050
Ensembl chr 2:28,011,359...28,244,327 		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 1:263,066,780...263,069,580
Ensembl chr 1:263,065,278...263,069,871 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17220914 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chr15:21,304,053...21,370,608
Ensembl chr15:21,303,826...21,370,608 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:63,637,314...63,803,911
Ensembl chr 8:63,637,314...63,781,116 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:9792409 PMID:10386614 More... NCBI chr10:7,468,371...7,489,574
Ensembl chr10:7,468,372...7,489,554 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:105,013,104...105,034,319 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25025039 PMID:25741868 NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More... NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 More... NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465 		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 chr10:101,905,083...101,930,136
Ensembl chr10:101,905,083...101,930,136 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106 		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 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:127,861,589...127,911,638 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:28492532 NCBI chr 6:78,090,843...78,094,888
Ensembl chr 6:78,090,843...78,094,888 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,663,665...7,723,416 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:28492532 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness 		CTD
ClinVar		 PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:26930420 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:6,128,070...6,232,005 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:25741868 PMID:28492532 PMID:32656949 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273 		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:139,592,794...139,652,290
Ensembl chr  X:139,592,604...139,652,282 		JBrowse link
G Fkrp fukutin related protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness 		CTD
ClinVar		 PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:104,540,927...104,583,038
Ensembl chr 2:104,540,533...104,582,818 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 More... NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:209,934,969...209,958,766 		JBrowse link
G Myo9b myosin IXb ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr16:17,979,374...18,064,100
Ensembl chr16:17,979,439...18,064,332 		JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness 		CTD
ClinVar		 PMID:15111675 NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,956,191...36,976,265 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:57,022,822...57,220,709 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:56,963,854...57,017,106 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 More... NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,636,596...10,675,050 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:23143600 PMID:28492532 NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 PMID:33269387 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr13:48,639,634...48,749,814
Ensembl chr13:48,639,934...48,749,812 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:107,215,626...107,372,398
Ensembl chr10:107,215,633...107,372,402 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO Diaphragm Weakness RGD PMID:21097524 RGD:5130943 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17444505 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive muscle weakness 		CTD
ClinVar		 PMID:25741868 PMID:25884947 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		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 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEP mRNA:decreased expression:skeletal muscle tissue RGD PMID:17029665 RGD:2325745 NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:27,381,855...27,466,772 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO RGD PMID:23792145 RGD:10059412 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 PMID:31227654 NCBI chr13:50,045,668...50,115,903
Ensembl chr13:50,045,668...50,115,903 		JBrowse link
G Cast calpastatin IEP protein:increased expression:gastrocnemius (rat) RGD PMID:28800153 RGD:405100967 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180 		JBrowse link
G Ccng1 cyclin G1 IEP associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,677,885...25,683,766 		JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased phosphorylation:gastrocnemius (rat) RGD PMID:24711688 RGD:11570530 NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:212,226,121...212,231,353 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		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 1:14,132,303...14,134,746
Ensembl chr 1:14,103,457...14,134,782 		JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:17916675 RGD:7257536 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IDA RGD PMID:21235761 RGD:5130936 NCBI chr 4:85,553,163...85,596,203
Ensembl chr 4:85,554,268...85,596,318 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:soleus (rat) RGD PMID:16928772 RGD:2315576 NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113 		JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		JBrowse link
G Dmd dystrophin IEP RGD PMID:12107060 RGD:625642 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Endog endonuclease G IEP RGD PMID:15650125 RGD:9685359 NCBI chr 3:33,846,935...33,849,531
Ensembl chr 3:33,846,885...33,849,573 		JBrowse link
G Fabp4 fatty acid binding protein 4 IEP associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr 2:93,488,251...93,492,961
Ensembl chr 2:93,488,271...93,492,972 		JBrowse link
G Fbxo32 F-box protein 32 IDA
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:91,620,925...91,654,491 		JBrowse link
G Fst follistatin ISO CTD Direct Evidence: therapeutic CTD PMID:33034787 NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:47,856,345...47,863,491 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8937196 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Ghr growth hormone receptor IEP mRNA:increased expression:soleus
associated with microgravity; mRNA:increased expression:gastrocnemius (rat) 		RGD PMID:12865352 PMID:14638460 RGD:2307376, RGD:151361116 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:54,270,206...54,532,331 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:76,009,507...76,153,249 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:21983076 RGD:10402941 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:110,076,710...110,103,665 		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 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723379 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421 		JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 NCBI chr 3:150,428,233...150,707,755
Ensembl chr 3:150,366,838...150,707,770 		JBrowse link
G Kras KRAS proto-oncogene, GTPase IEP associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		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 9:55,944,513...55,950,913
Ensembl chr 9:55,944,513...55,950,913 		JBrowse link
G Mt1a metallothionein 1A ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200
Ensembl chr  X:79,695,809...79,696,200
Ensembl chr19:79,695,809...79,696,200 		JBrowse link
G Mtmr4 myotubularin related protein 4 IEP protein:decreased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr10:72,890,665...72,913,598
Ensembl chr10:72,889,827...72,913,598 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:19260063 RGD:10041027 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase IEP protein:increased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr 8:82,264,751...82,349,642
Ensembl chr 8:82,264,649...82,349,633 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP protein:altered expression:nucleus RGD PMID:17622304 RGD:4892297 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025 		JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA protein:decreased localization:soleus, nucleus RGD PMID:11919155 RGD:7777164 NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:88,385,717...88,413,420 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:decreased expression, decreased phosphorylation:soleus RGD PMID:17885021 RGD:1642984 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,815,614...71,865,238 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:muscle RGD PMID:19574431 RGD:4144861 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Sgca sarcoglycan, alpha IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr10:80,397,158...80,416,165
Ensembl chr10:80,405,566...80,419,616 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24163136 PMID:29374221 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Tfrc transferrin receptor IEP mRNA:decreased expression:gastrocnemius RGD PMID:18395385 RGD:2292027 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		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 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 IEP RGD PMID:20943961 RGD:13463487 NCBI chr16:7,416,590...7,442,681
Ensembl chr16:7,416,597...7,442,658
Ensembl chr 3:7,416,597...7,442,658
Ensembl chr 6:7,416,597...7,442,658 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24534773 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 IEP RGD PMID:20943961 RGD:13463487 NCBI chr19:71,822,429...71,832,420
Ensembl chr19:71,822,411...71,832,510 		JBrowse link
G Trim63 tripartite motif containing 63 IEP
ISO 		mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 5:151,817,209...151,831,026
Ensembl chr 5:151,817,225...151,831,058 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:164,251,373...164,257,743 		JBrowse link
G Ucp3 uncoupling protein 3 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:164,227,882...164,241,210 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24550007 NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:143,801,181...143,991,950 		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: KY-related condition | ClinVar Annotator: match by term: Myofibrillar myopathy 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:28492532 PMID:30591934 NCBI chr 8:112,041,586...112,093,061
Ensembl chr 8:112,041,594...112,084,646 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: KY-related condition | ClinVar Annotator: match by term: Myofibrillar myopathy 7 OMIM
ClinVar		 PMID:25741868 PMID:27484770 PMID:27485408 PMID:28492532 PMID:30591934 NCBI chr 8:111,965,862...112,005,206
Ensembl chr 8:111,965,862...112,005,206 		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 IAGP
ISO 		ClinVar Annotator: match by term: Myokymia ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:22206926 RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044 		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: MICU1-related condition | ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:24336167 PMID:25741868 PMID:27159402 More... NCBI chr20:28,211,774...28,357,928
Ensembl chr20:28,211,691...28,359,919 		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 PMID:758138 PMID:7581380 PMID:7874130 PMID:8533761 PMID:8845168 More... NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:72,139,162...72,168,128 		JBrowse link
G Dmpk DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:87,858,316...87,868,910 		JBrowse link
G Fam131b family with sequence similarity 131, member B ISO ClinVar Annotator: match by term: Myotonia ClinVar PMID:16321142 PMID:18337100 PMID:23113340 PMID:23739125 PMID:25741868 More... NCBI chr 4:72,167,667...72,176,924
Ensembl chr 4:72,165,578...72,176,858 		JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24039817 NCBI chr 2:146,789,570...146,964,136
Ensembl chr 2:146,789,596...146,964,134 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myotonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		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:27922499 PMID:28492532 More... NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324 		JBrowse link
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539 NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM
ClinVar		 PMID:25741868 PMID:30607023 PMID:31363758 PMID:39412222 NCBI chr 5:138,091,773...138,099,048
Ensembl chr 5:138,093,456...138,099,068 		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 PMID:39825153 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia ClinVar PMID:25741868 NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:161,491,847...161,637,612 		JBrowse link
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr 7:65,244,247...65,249,580
Ensembl chr 7:65,244,247...65,249,567 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: HDAC4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM
ClinVar		 PMID:10958686 PMID:11486037 PMID:25741868 PMID:28492532 PMID:33537682 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		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: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 5:29,094,475...29,141,874
Ensembl chr 5:29,094,475...29,142,099 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:29302074 PMID:32761064 NCBI chr 3:97,570,141...97,613,688
Ensembl chr 3:97,570,787...97,613,509 		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) Position
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 NCBI chr 8:53,626,382...53,630,042
Ensembl chr 8:53,625,474...53,630,241 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 More... NCBI chr 3:130,148,061...130,162,458
Ensembl chr 3:130,148,301...130,162,112 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: VAMP2-related condition OMIM
ClinVar		 PMID:11691998 PMID:15475946 PMID:25741868 PMID:30144509 PMID:30929742 More... NCBI chr10:54,292,423...54,296,657
Ensembl chr10:54,292,806...54,296,654 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:34186028 NCBI chr16:34,138,004...34,210,984
Ensembl chr16:34,137,952...34,210,984 		JBrowse link
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:32220290 PMID:33392778 NCBI chr 2:244,289,928...244,375,394
Ensembl chr 2:244,250,621...244,376,030 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358 NCBI chr12:24,795,505...24,800,796
Ensembl chr12:24,795,827...24,800,796 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:33420346 NCBI chr 8:54,132,799...54,174,921
Ensembl chr 8:54,132,801...54,174,835 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 7:110,244,634...110,258,071
Ensembl chr 7:110,244,634...110,261,078 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and seizures | ClinVar Annotator: match by term: OTUD7A-related condition OMIM
ClinVar		 PMID:25741868 PMID:31997314 PMID:33381903 NCBI chr 1:126,476,275...126,800,037
Ensembl chr 1:126,693,712...126,799,301 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers 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 Annotator: match by term: POLR2A-related condition OMIM
ClinVar		 PMID:19344873 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31353023 More... NCBI chr10:54,951,162...54,977,179
Ensembl chr10:54,951,162...54,977,179 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:109,663,490...109,674,724 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC120096085 U4 spliceosomal RNA ISO ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chr12:46,786,790...46,786,930
Ensembl chr12:46,786,790...46,786,930 		JBrowse link
G Rnu4-2 RNA, U4 small nuclear 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chr 5:129,492,858...129,492,998
Ensembl chr 5:129,492,858...129,492,998 		JBrowse link
G Sirt4 sirtuin 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chr12:46,785,852...46,800,179
Ensembl chr12:46,791,898...46,800,173 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chr 1:229,099,741...229,984,172
Ensembl chr 1:229,099,542...229,984,172 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM
ClinVar		 PMID:28492532 PMID:33979636 NCBI chr 1:163,983,917...164,033,027
Ensembl chr 1:163,983,917...164,033,027 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | ClinVar Annotator: match by term: PPP1R21-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:29808498 PMID:30520571 More... NCBI chr 6:11,655,059...11,724,219
Ensembl chr 6:11,655,059...11,724,219 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp4 WW domain binding protein 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:37963460 NCBI chr15:61,271,774...61,299,740
Ensembl chr15:61,271,783...61,299,740 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28135719 PMID:28492532 PMID:33473207 PMID:34819662 NCBI chr 4:17,706,061...17,790,176
Ensembl chr 4:17,706,025...17,789,198 		JBrowse link
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM
ClinVar		 PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,164...11,350,415 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:46,564,855...46,592,776
Ensembl chr 6:46,564,735...46,594,136 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | ClinVar Annotator: match by term: RALGAPA1-related condition OMIM
ClinVar		 PMID:25741868 PMID:32004447 NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:78,701,832...78,987,486 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia ClinVar
OMIM		 PMID:37943610 PMID:37943617 NCBI chr 6:116,466,163...116,510,436
Ensembl chr 6:116,466,163...116,510,578 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 9:63,621,193...63,921,999
Ensembl chr 9:63,555,869...63,921,940 		JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27334371 PMID:27389779 PMID:28492532 More... NCBI chr 9:62,853,904...63,247,472
Ensembl chr 9:62,859,645...63,074,758 		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 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821 		JBrowse link
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 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: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MEF2C-related disorder | ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar		 PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More... NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:15,708,924...15,871,640 		JBrowse link
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock3 dedicator of cyto-kinesis 3 ISO ClinVar Annotator: match by term: DOCK3-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM
ClinVar		 PMID:25741868 PMID:28195318 PMID:28492532 PMID:29130632 PMID:30976111 NCBI chr 8:116,431,158...116,782,218
Ensembl chr 8:116,431,159...116,782,195 		JBrowse link
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia OMIM
ClinVar		 PMID:26467025 PMID:39306721 NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmx2 thioredoxin-related transmembrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | ClinVar Annotator: match by term: TMX2-related condition OMIM
ClinVar		 PMID:25741868 PMID:31586943 PMID:31735293 NCBI chr 3:90,161,628...90,169,278
Ensembl chr 3:90,160,930...90,169,278 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chr 1:65,115,770...65,136,516
Ensembl chr 1:65,114,724...65,136,640 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers 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 3:76,441,621...76,492,782
Ensembl chr 3:76,424,469...76,492,782 		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: PRUNE1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 2:185,519,569...185,548,402
Ensembl chr 2:185,520,781...185,548,402 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:46,601,583...46,649,344 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 PMID:25741868 NCBI chr 6:46,564,855...46,592,776
Ensembl chr 6:46,564,735...46,594,136 		JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr 6:46,594,177...46,601,394
Ensembl chr 6:46,594,080...46,601,392 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr 6:46,664,358...46,694,875
Ensembl chr 6:46,664,358...46,694,875 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:39753114 NCBI chr 4:122,276,907...122,473,049
Ensembl chr 4:122,263,535...122,473,049 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain abnormalities ClinVar PMID:39753114 NCBI chr 4:122,489,754...122,524,666
Ensembl chr 4:122,489,680...122,524,665 		JBrowse link
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities ClinVar PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 More... NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM
ClinVar		 PMID:9084927 PMID:9973289 PMID:15571623 PMID:25741868 PMID:32707086 More... NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: GRM7-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities OMIM
ClinVar		 PMID:25741868 PMID:27435318 PMID:28492532 PMID:32286009 NCBI chr 4:145,286,714...146,169,099
Ensembl chr 4:145,286,924...146,169,201 		JBrowse link
neurodevelopmental disorder with spasticity and poor growth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth | ClinVar Annotator: match by term: UFC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:29868776 NCBI chr13:86,241,779...86,280,513
Ensembl chr13:86,241,779...86,248,522 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia ClinVar
OMIM		 PMID:33443317 NCBI chr 3:33,027,240...33,201,240
Ensembl chr 3:33,027,525...33,201,240 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsrp1 nuclear speckle splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities OMIM
ClinVar		 PMID:22112859 PMID:25741868 PMID:34385670 NCBI chr10:62,378,937...62,412,601
Ensembl chr10:62,378,955...62,412,601 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE OMIM
ClinVar		 PMID:25741868 PMID:28097321 PMID:30787422 PMID:36576126 PMID:38083972 NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:109,462,646...109,489,531 		JBrowse link
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnr tenascin R ISO ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus OMIM
ClinVar		 PMID:25741868 PMID:28334938 PMID:32099069 NCBI chr13:74,285,141...74,706,174
Ensembl chr13:74,507,366...74,701,115 		JBrowse link
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder, congenital, with dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:36943452 PMID:37163662 NCBI chr 8:89,641,509...89,836,772
Ensembl chr 8:89,644,579...89,802,771 		JBrowse link
Neuronal Ceroid Lipofuscinosis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 More... NCBI chr 5:163,715,593...163,748,301
Ensembl chr 5:163,717,439...163,748,198 		JBrowse link
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: DAGLA-related condition | ClinVar Annotator: match by term: Paroxysmal tonic upgaze, benign childhood, with ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35737950 NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:216,315,516...216,372,111 		JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO
ISS 		ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
OMIM:611126
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 PMID:20816094 More... NCBI chr 2:120,871,329...120,894,306
Ensembl chr 2:120,871,227...120,894,709 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 More... NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr 4:121,683,889...121,738,920
Ensembl chr 4:121,683,889...121,737,802 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		ClinVar PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 More... NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:24033266 PMID:24660985 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:24716661 NCBI chr 4:117,179,335...117,182,738
Ensembl chr 4:117,179,335...117,182,744 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:97,551,061...97,569,216 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:23555315 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26467025 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar		 PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More... NCBI chr 1:129,254,815...129,390,217
Ensembl chr 1:129,254,515...129,389,941 		JBrowse link
PEHO-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: CCDC88A-related condition | ClinVar Annotator: match by term: PEHO-like syndrome OMIM
ClinVar		 PMID:25741868 PMID:26917597 PMID:28492532 PMID:30392057 PMID:37798908 More... NCBI chr14:107,304,654...107,456,104
Ensembl chr14:107,305,199...107,453,285 		JBrowse link
Polyglucosan Body Myopathy 1 with or without Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:161,170,405...161,215,698 		JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency OMIM
ClinVar		 PMID:2379848 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18691923 More... NCBI chr 3:161,249,389...161,266,321
Ensembl chr 3:161,249,390...161,266,032 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr15:33,053,450...33,065,285
Ensembl chr15:33,053,607...33,065,284 		JBrowse link
G Scrt2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:161,041,651...161,055,596
Ensembl chr 3:161,041,651...161,055,596 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:160,965,302...160,974,692 		JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:161,064,812...161,070,372
Ensembl chr 3:161,059,931...161,088,765 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:2379848 PMID:23104095 PMID:23889995 PMID:28492532 NCBI chr 3:161,228,699...161,247,319
Ensembl chr 3:161,228,785...161,247,316 		JBrowse link
G Tcf15 transcription factor 15 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:161,099,301...161,105,083
Ensembl chr 3:161,099,301...161,105,083 		JBrowse link
Polyglucosan Body Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy type 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20357282 PMID:24033266 More... NCBI chr 2:104,540,927...104,583,038
Ensembl chr 2:104,540,533...104,582,818 		JBrowse link
primary coenzyme Q10 deficiency 1 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, primary, 1 ClinVar NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar
OMIM		 PMID:9536098 PMID:12682339 PMID:16116126 PMID:16400613 PMID:17332895 More... NCBI chr14:9,245,777...9,265,784
Ensembl chr14:9,245,803...9,265,783 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar PMID:24033266 NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378 		JBrowse link
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi1 abl-interactor 1 ISO ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ClinVar PMID:25741868 NCBI chr17:90,006,917...90,088,002
Ensembl chr17:90,006,925...90,087,827 		JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | ClinVar Annotator: match by term: PDSS1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17332895 PMID:17576681 PMID:22494076 PMID:25264263 More... NCBI chr17:89,964,768...90,006,819
Ensembl chr17:89,968,034...90,006,817 		JBrowse link
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17186472 PMID:17374725 PMID:17576681 PMID:19096106 More... NCBI chr20:48,291,788...48,520,846
Ensembl chr20:48,291,797...48,535,689 		JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr13:94,215,359...94,435,681
Ensembl chr13:94,215,959...94,435,681 		JBrowse link
G Coq8a coenzyme Q8A ISO
ISS 		ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
OMIM:612016 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378 		JBrowse link
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome OMIM
ClinVar		 PMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 More... NCBI chr19:10,172,943...10,185,960
Ensembl chr19:10,172,949...10,185,937 		JBrowse link
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: COQ6-related condition | ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness OMIM
ClinVar		 PMID:21540551 PMID:24140869 PMID:25324289 PMID:25741868 PMID:28044327 More... NCBI chr 6:109,738,934...109,750,315
Ensembl chr 6:109,738,951...109,750,310 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: COQ6-related condition | ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness ClinVar PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 More... NCBI chr 6:109,750,210...109,786,376
Ensembl chr 6:109,753,204...109,786,495 		JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,642,660...28,662,689
Ensembl chr 3:28,642,758...28,662,681 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:35,377,391...35,480,846 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,560,172...30,604,758 JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581 		JBrowse link
G Aif1l allograft inflammatory factor 1-like ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,627,239...35,651,793
Ensembl chr 3:35,627,239...35,651,793 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,793,078...28,799,459
Ensembl chr 3:28,774,457...28,800,096 		JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,426,892...32,542,432
Ensembl chr 3:32,426,421...32,542,431 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,484,590...28,496,338
Ensembl chr 3:28,484,614...28,496,337 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,133,190...28,140,378
Ensembl chr 3:28,133,191...28,140,687 		JBrowse link
G Asb6 ankyrin repeat and SOCS box-containing 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,508,390...34,513,033
Ensembl chr 3:34,508,140...34,513,033 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,144,765...35,194,632
Ensembl chr 3:35,144,999...35,194,627 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,639,283...32,646,605
Ensembl chr 3:32,638,644...32,646,605 		JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,072,325...36,075,070
Ensembl chr 3:36,072,328...36,075,093 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:31,173,332...31,227,749
Ensembl chr 3:31,173,332...31,227,629 		JBrowse link
G C3h9orf50 similar to human chromosome 9 open reading frame 50 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,477,535...34,484,791
Ensembl chr 3:34,478,508...34,484,805 		JBrowse link
G C3h9orf78 similar to human chromosome 9 open reading frame 78 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,662,011...34,670,282
Ensembl chr 3:34,661,630...34,670,282 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,718,648...28,720,232 JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,733,958...30,750,237
Ensembl chr 3:30,736,637...30,744,764 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:29,144,318...29,204,184 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,826,918...28,837,072
Ensembl chr 3:28,826,921...28,835,326 		JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,394,168...36,399,016
Ensembl chr 3:36,394,169...36,399,528 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,281,518...32,289,019
Ensembl chr 3:32,281,518...32,289,019 		JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,515,513...33,553,817
Ensembl chr 3:33,486,664...33,553,813 		JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,464,219...36,471,193
Ensembl chr 3:36,464,219...36,471,193 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,656,410...32,779,261
Ensembl chr 3:32,656,410...32,779,261 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,429,413...28,437,210
Ensembl chr 3:28,431,410...28,436,125 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,055,753...36,071,510
Ensembl chr 3:36,056,370...36,075,192 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,670,176...28,672,166
Ensembl chr 3:28,670,229...28,675,723 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22368301 PMID:25658047 More... NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:33,457,596...33,468,379 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,452,359...28,456,006
Ensembl chr 3:28,451,219...28,456,118 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,570,725...32,635,446
Ensembl chr 3:32,571,020...32,636,954 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,852,710...29,862,248
Ensembl chr 3:29,853,973...29,862,255 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,568,041...29,569,937
Ensembl chr 3:29,568,041...29,569,996 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:36,002,064...36,046,289 		JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,955,642...33,957,680
Ensembl chr 3:33,954,308...33,958,365 		JBrowse link
G Dolpp1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,063,825...34,072,133
Ensembl chr 3:34,063,825...34,072,132 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,168,466...28,177,173
Ensembl chr 3:28,168,547...28,177,173 		JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,253,548...36,256,592 JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,563,240...28,567,492
Ensembl chr 3:28,563,240...28,567,492 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,703,882...33,719,960
Ensembl chr 3:33,703,882...33,719,960 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,764,906...28,779,499 JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,220,170...36,252,377
Ensembl chr 3:36,211,730...36,252,378 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,802,481...29,814,966
Ensembl chr 3:29,802,690...29,814,951 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:27,978,888...28,127,349 		JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,846,935...33,849,531
Ensembl chr 3:33,846,885...33,849,573 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,611,722...28,617,237
Ensembl chr 3:28,611,772...28,618,184 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,283,392...28,295,686
Ensembl chr 3:28,285,777...28,293,686 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:35,360,666...35,371,373 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,834,145...30,865,802
Ensembl chr 3:30,834,146...30,864,530 		JBrowse link
G Fam78a family with sequence similarity 78, member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,753,712...35,771,600
Ensembl chr 3:35,753,712...35,770,448 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,720,670...28,725,237
Ensembl chr 3:28,720,778...28,725,235 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:31,791,750...31,800,188
Ensembl chr 3:31,791,750...31,800,188 		JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,490,459...35,524,142
Ensembl chr 3:35,490,459...35,524,142 		JBrowse link
G Fnbp1 formin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,706,814...34,826,770
Ensembl chr 3:34,706,814...34,822,117 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:36,370,300...36,391,068 		JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,253,216...35,302,282
Ensembl chr 3:35,253,306...35,302,280 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,635,913...28,640,407
Ensembl chr 3:28,637,107...28,641,388 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,219,370...32,227,737 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:32,338,214...32,350,916 		JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,607,160...33,638,879 JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,026,023...29,037,010
Ensembl chr 3:29,026,025...29,036,699 		JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:35,981,783...36,002,023
Ensembl chr 3:35,981,499...36,002,022 		JBrowse link
G Gpr107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,832,462...34,893,692
Ensembl chr 3:34,832,480...34,893,654 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:29,526,802...29,565,920 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,552,773...32,570,705
Ensembl chr 3:32,555,628...32,570,689 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,291,851...32,312,188
Ensembl chr 3:32,291,859...32,312,164 		JBrowse link
G Hmcn2 hemicentin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,986,246...35,136,047
Ensembl chr 3:34,986,263...35,136,106 		JBrowse link
G Ier5l immediate early response 5-like ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,141,866...34,143,457
Ensembl chr 3:34,139,672...34,144,452 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
G Kyat1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,857,407...33,891,153
Ensembl chr 3:33,857,743...33,890,642 		JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,562,989...35,624,460
Ensembl chr 3:35,562,713...35,624,460 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,930,943...29,935,418 JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,888,901...28,892,454
Ensembl chr 3:28,888,860...28,892,453 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:28,707,042...28,720,501 		JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,882,133...28,887,697
Ensembl chr 3:28,882,133...28,887,694 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,866,061...28,869,045
Ensembl chr 3:28,866,061...28,869,045 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,041,710...29,050,677
Ensembl chr 3:29,041,133...29,044,895 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:29,424,620...29,432,637 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,500,517...28,501,843
Ensembl chr 3:28,500,517...28,501,843 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,902,299...33,934,989
Ensembl chr 3:33,908,268...33,933,625 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,780,523...28,789,139
Ensembl chr 3:28,780,523...28,789,139 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,539,778...28,563,155
Ensembl chr 3:28,541,347...28,563,154 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,631,829...30,636,911
Ensembl chr 3:30,631,829...30,636,911 		JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,027,240...33,201,240
Ensembl chr 3:33,027,525...33,201,240 		JBrowse link
G Miga2 mitoguardin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,034,018...34,056,703
Ensembl chr 3:34,034,044...34,056,703 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,813,150...29,813,267 JBrowse link
G Mir219b microRNA 219b ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,516,501...33,516,600
Ensembl chr 3:33,516,501...33,516,600 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,178,837...28,179,755
Ensembl chr 3:28,162,197...28,181,250 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,201,037...32,204,317
Ensembl chr 3:32,198,641...32,204,892 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:29,281,190...29,344,840 		JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,138,982...36,145,414
Ensembl chr 3:36,138,982...36,145,414 		JBrowse link
G Ncs1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,920,949...34,966,554
Ensembl chr 3:34,920,971...34,968,711 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,460,787...28,469,018
Ensembl chr 3:28,460,797...28,469,018 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,409,045...28,425,564
Ensembl chr 3:28,409,050...28,425,564 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,293,643...28,309,828
Ensembl chr 3:28,293,658...28,304,022 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,618,601...28,624,591 JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,390,745...28,393,299
Ensembl chr 3:28,390,733...28,393,453 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:28,260,004...28,268,789 		JBrowse link
G Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,490,972...34,508,316
Ensembl chr 3:34,484,388...34,508,417 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,957,778...34,014,122
Ensembl chr 3:33,957,791...34,014,122 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,652,841...35,738,323
Ensembl chr 3:35,652,858...35,739,192 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,904,024...28,907,391
Ensembl chr 3:28,902,876...28,907,389 		JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,960,375...28,983,394
Ensembl chr 3:28,980,186...28,983,370 		JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,557,738...33,605,076
Ensembl chr 3:33,558,832...33,605,076 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:31,918,512...31,956,261
Ensembl chr 3:31,918,573...31,956,260 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,929,252...28,932,592 JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,672,906...28,676,252
Ensembl chr 3:28,672,906...28,674,466 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,791,062...28,792,905 JBrowse link
G Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,933,487...33,951,614
Ensembl chr 3:33,937,898...33,951,614 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,195,024...32,201,111
Ensembl chr 3:32,195,024...32,199,561 		JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,258,141...36,266,902
Ensembl chr 3:36,258,102...36,266,888 		JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,747,610...33,761,405
Ensembl chr 3:33,747,867...33,761,405 		JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,782,215...35,796,577
Ensembl chr 3:35,782,204...35,796,575 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:29,604,232...29,614,935 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,180,670...28,259,673
Ensembl chr 3:28,180,751...28,259,672 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,179,686...32,188,069
Ensembl chr 3:32,177,235...32,188,264 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,322,962...35,341,878
Ensembl chr 3:35,322,962...35,341,878 		JBrowse link
G Prrc2b proline-rich coiled-coil 2B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,831,017...35,916,854
Ensembl chr 3:35,863,046...35,916,854 		JBrowse link
G Prrx2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,530,331...34,566,284
Ensembl chr 3:34,520,173...34,566,284 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978 		JBrowse link
G Ptges prostaglandin E synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,575,643...34,586,987
Ensembl chr 3:34,575,639...34,586,995 		JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,088,246...36,095,430
Ensembl chr 3:36,088,246...36,097,694 		JBrowse link
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,087,637...34,118,100
Ensembl chr 3:34,087,575...34,162,772 		JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,462,575...36,475,605
Ensembl chr 3:36,462,575...36,476,139 		JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,485,579...35,487,902
Ensembl chr 3:35,485,822...35,486,202 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,433,091...29,462,739
Ensembl chr 3:29,433,091...29,463,036 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,800,802...28,826,722
Ensembl chr 3:28,800,802...28,826,722 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,237,644...32,278,045
Ensembl chr 3:32,237,786...32,278,045 		JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,296,211...33,414,119
Ensembl chr 3:33,296,230...33,414,119 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,678,729...30,692,376
Ensembl chr 3:30,678,740...30,689,059 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,455,836...28,457,879
Ensembl chr 3:28,395,769...28,458,093 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,448,248...28,450,576
Ensembl chr 3:28,448,248...28,450,981 		JBrowse link
G Rnu6atac RNA, U6atac small nuclear ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 2:214,235,383...214,235,512
Ensembl chr 2:214,235,383...214,235,512 		JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,637,136...30,639,778
Ensembl chr 3:30,637,059...30,639,791
Ensembl chr18:30,637,059...30,639,791 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,583,615...28,590,694
Ensembl chr 3:28,585,416...28,591,389 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,908,621...30,973,409
Ensembl chr 3:30,908,621...30,972,137 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,627,779...29,662,925
Ensembl chr 3:29,627,779...29,662,319 		JBrowse link
G Set Set nuclear proto-oncogene ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,732,319...33,743,433 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,408,305...36,444,191
Ensembl chr 3:36,408,304...36,444,716 		JBrowse link
G Sh3glb2 SH3 domain-containing GRB2-like endophilin B2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,014,746...34,029,607
Ensembl chr 3:34,014,746...34,029,566 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,106,448...36,139,812
Ensembl chr 3:36,106,449...36,140,011 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,472,903...33,485,824
Ensembl chr 3:33,472,903...33,485,824 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,746,472...30,753,287
Ensembl chr 3:30,745,995...30,753,287 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,061,267...29,065,588
Ensembl chr 3:29,061,267...29,065,588 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,417,350...32,426,776
Ensembl chr 3:32,417,350...32,426,934 		JBrowse link
G Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,849,007...33,856,564
Ensembl chr 3:33,849,007...33,856,269 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,483,107...28,484,571
Ensembl chr 3:28,483,107...28,484,608 		JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,269,834...36,282,971
Ensembl chr 3:36,269,878...36,282,971 		JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,283,573...36,305,217
Ensembl chr 3:36,283,629...36,305,216 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,659,659...30,678,650
Ensembl chr 3:30,659,699...30,678,650 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,426,283...28,432,857
Ensembl chr 3:28,426,292...28,428,692 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,639,868...30,642,759 JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,642,735...30,648,525
Ensembl chr 3:30,642,729...30,647,198 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,646,435...30,659,641
Ensembl chr 3:30,638,299...30,661,390 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,619,525...30,630,388
Ensembl chr 3:30,619,530...30,630,247 		JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:35,972,436...35,981,658
Ensembl chr 3:35,972,436...35,981,554 		JBrowse link
G Tbc1d13 TBC1 domain family, member 13 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,806,772...33,823,346
Ensembl chr 3:33,795,746...33,823,345 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,837,665...28,839,623
Ensembl chr 3:28,836,576...28,839,623 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,469,062...28,469,890
Ensembl chr 3:28,465,345...28,472,140 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,498,751...28,499,801
Ensembl chr 3:28,498,751...28,499,801 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:29,360,770...29,364,462 		JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,648,421...34,655,453
Ensembl chr 3:34,648,422...34,655,417 		JBrowse link
G Tor1b torsin family 1, member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,640,929...34,647,023
Ensembl chr 3:34,640,931...34,647,027 		JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,446,260...36,450,339
Ensembl chr 3:36,446,273...36,450,908 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,402,454...28,406,141
Ensembl chr 3:28,399,513...28,406,473 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,740,098...28,764,752
Ensembl chr 3:28,740,098...28,764,691 		JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22368301 PMID:25658047 PMID:25741868 More... NCBI chr 3:33,447,101...33,457,712
Ensembl chr 3:33,431,628...33,457,726 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:32,367,670...32,416,568 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:25741868 PMID:26467025 PMID:28215400 PMID:28492532 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:36,450,271...36,462,590
Ensembl chr 3:36,446,272...36,462,368 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:32,782,544...32,807,202
Ensembl chr 3:32,782,308...32,807,201 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,435,999...28,438,455
Ensembl chr 3:28,435,148...28,439,719 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:29,223,582...29,246,216
Ensembl chr 3:29,204,570...29,246,161 		JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:35,936,328...35,942,213
Ensembl chr 3:35,936,339...35,954,311 		JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:33,489,974...33,514,942
Ensembl chr 3:33,489,892...33,516,715 		JBrowse link
G Usp20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:34,670,613...34,704,156
Ensembl chr 3:34,670,685...34,704,156 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:30,982,754...31,152,116
Ensembl chr 3:30,982,754...31,152,116 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:31,233,048...31,254,730
Ensembl chr 3:31,235,222...31,254,727 		JBrowse link
G Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,761,338...33,764,207
Ensembl chr 3:33,761,353...33,764,323 		JBrowse link
G Zer1 zyg-11 related, cell cycle regulator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:33,767,520...33,806,716
Ensembl chr 3:33,767,520...33,807,098 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 3:28,156,314...28,167,903
Ensembl chr 3:28,156,314...28,167,902 		JBrowse link
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq7 coenzyme Q7, hydroxylase ISO ClinVar Annotator: match by term: COQ7-related condition | ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 OMIM
ClinVar		 PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 More... NCBI chr 1:182,270,570...182,285,959
Ensembl chr 1:182,269,399...182,285,508 		JBrowse link
primary coenzyme Q10 deficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq5 coenzyme Q5, methyltransferase ISO ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29044765 NCBI chr12:46,977,632...46,994,575
Ensembl chr12:46,977,632...46,994,712 		JBrowse link
Primrose Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primrose syndrome | ClinVar Annotator: match by term: ZBTB20-related condition 		CTD
ClinVar
OMIM		 PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 More... NCBI chr11:70,558,010...71,297,039
Ensembl chr11:70,580,930...70,736,237 		JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:56,030,409...56,072,952 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 More... NCBI chr17:55,983,627...56,031,578
Ensembl chr17:55,985,707...56,032,302 		JBrowse link
RADIO-TARTAGLIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Radio-Tartaglia syndrome | ClinVar Annotator: match by term: SPEN-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28404951 PMID:28492532 PMID:33596411 NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:159,058,258...159,165,934 		JBrowse link
Sarcopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 severity IEP RNA:increased expression:plantaris muscle: RGD PMID:17029665 RGD:2325745 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
G Ak1 adenylate kinase 1 IEP protein:increased expression:gastrocnemius muscle (rat) RGD PMID:17611631 RGD:5147990 NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757 		JBrowse link
G Ar androgen receptor treatment ISO
IDA 		RGD PMID:24177288 PMID:17049844 RGD:10043306, RGD:10043311 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased localization:gastrocnemius (rat) RGD PMID:20850499 RGD:13703063 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:73,567,526...73,575,922 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G Cav1 caveolin 1 severity ISO DNA:SNP:intron:14713G>A (rs3807987) (human) RGD PMID:24815842 RGD:10045568 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO RGD PMID:20022929 RGD:10043356 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO protein:increased expression:thigh muscle (mouse) RGD PMID:21982926 RGD:10401269 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:96,896,171...96,899,309 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO mRNA:increased expression:vastus lateralis muscle (human) RGD PMID:15687482 RGD:10401226 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:176,816,859...176,838,072 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon IDA RGD PMID:15187001 RGD:10395315 NCBI chr11:93,898,814...93,909,431
Ensembl chr11:93,898,814...93,908,800 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IEP RGD PMID:15187001 RGD:10395315 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:103,405,788...103,431,649 		JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:25,345,239...25,349,335 		JBrowse link
G Foxo4 forkhead box O4 IEP RGD PMID:16870627 RGD:10402356 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:70,425,563...70,432,120 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Mfn2 mitofusin 2 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Nfkbia NFKB inhibitor alpha IEP protein:increased expression:soleus RGD PMID:15665035 RGD:10413861 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:altered expression:gastrocnemius muscle (rat) RGD PMID:16870628 RGD:10053649 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,921,248...30,941,779
Ensembl chr20:30,921,249...30,941,723 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO
ISS 		ClinVar Annotator: match by term: KCTD1-related condition | ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
MouseDO		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:9536098 PMID:10517259 More... NCBI chr18:6,396,947...6,591,026
Ensembl chr18:6,396,947...6,515,191 		JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition OMIM
ClinVar		 PMID:24907849 PMID:25741868 PMID:28492532 PMID:32737394 NCBI chr18:79,846,012...80,245,177
Ensembl chr18:79,846,012...80,245,106 		JBrowse link
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Qualifiers 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:30712878 PMID:31303265 PMID:39825153 NCBI chr 9:52,438,026...52,441,152
Ensembl chr 9:52,435,625...52,454,705 		JBrowse link
Spasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Muscle spasm ClinVar PMID:3490596 PMID:21675912 PMID:22047571 PMID:23001465 PMID:23485543 More... NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle spasm ClinVar PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:28492532 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:7192515 NCBI chr 3:67,522,489...67,531,533
Ensembl chr 3:67,522,489...67,531,533 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:2444298 PMID:3567346 PMID:5784655 PMID:8680739 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594 		JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia 		ClinVar
RGD		 PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:150,512,037...150,583,144 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:61,670,475...61,685,379 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:198,395,767...198,408,514
Ensembl chr 2:198,395,768...198,408,796 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:87,261,964...87,286,911
Ensembl chr13:87,261,968...87,286,911 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr16:76,654,725...76,726,092
Ensembl chr16:76,653,660...76,728,801 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,851,896...79,919,634 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:57,315,900...57,578,220 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:125,899,526...126,018,865 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:72,198,773...72,213,777
Ensembl chr 8:72,198,712...72,213,776 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:33,457,596...33,468,379 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:123,621,510...124,742,585
Ensembl chr 5:124,369,415...124,742,584 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:75,842,078...75,870,319
Ensembl chr13:75,836,565...75,869,904 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,920,455...2,955,539 		JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:141,080,568...141,087,112
Ensembl chr 2:141,080,568...141,087,229 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,864,766...39,956,902 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More... NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:123,182,643...123,245,578 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:122,963,718...123,036,326 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:34445196 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:142,743,334...143,066,504 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:93,225,509...93,427,650
Ensembl chr17:93,225,540...93,427,650 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr17:58,015,979...58,036,735
Ensembl chr17:58,015,979...58,036,954 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:86,501,864...86,509,333
Ensembl chr10:86,501,836...86,509,315 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,631,476...53,699,539 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:21855841 PMID:22855961 PMID:25477152 PMID:25741868 PMID:27029625 More... NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200 		JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:148,120,712...148,238,468
Ensembl chr 5:148,121,254...148,238,466 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr14:62,524,287...62,554,529
Ensembl chr14:62,524,313...62,554,533 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:59,482,709...59,557,808 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chr18:23,490,422...23,519,599
Ensembl chr18:23,490,425...23,518,730 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34445196 NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:129,461,477...129,526,742 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:43,895,994...44,388,721 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:128,144,851...128,258,738 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:16353398 PMID:17603484 PMID:18060660 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608 		JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25658047 PMID:25741868 PMID:26185144 More... NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:33,457,596...33,468,379 		JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36047608 NCBI chr 3:33,447,101...33,457,712
Ensembl chr 3:33,431,628...33,457,726 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,830,684...55,831,827 JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,882,071...55,900,575
Ensembl chr10:55,882,071...55,900,179 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,829,835...55,838,853
Ensembl chr10:55,829,836...55,834,154 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,868,880...55,876,099
Ensembl chr10:55,866,101...55,874,540 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560 		JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,900,610...55,912,975
Ensembl chr10:55,900,610...55,912,698 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9535554 PMID:9536098 PMID:14594949 PMID:16199547 PMID:17273843 More... NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,863,881...55,868,611 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,859,254...55,863,546
Ensembl chr10:55,859,297...55,863,905 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,855,979...55,859,060 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,875,868...55,882,025
Ensembl chr10:55,875,868...55,882,025 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3 		OMIM
CTD
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:64,214,935...64,228,408
Ensembl chr 9:64,215,128...64,338,443 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chr17:58,015,979...58,036,735
Ensembl chr17:58,015,979...58,036,954 		JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 More... NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:63,213,287...63,222,926
Ensembl chr18:63,213,279...63,224,303 		JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chr 1:203,811,582...203,813,122
Ensembl chr 1:203,811,582...203,813,122 		JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF-hand protein 1 ISO OMIM NCBI chr 3:126,989,800...127,025,071
Ensembl chr 3:126,989,579...127,042,443 		JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Qualifiers 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:1259395 PMID:2517465 PMID:7673954 PMID:7881433 PMID:7997024 More... NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atox1 antioxidant 1 copper chaperone ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,065,525...40,080,627
Ensembl chr10:40,065,527...40,080,585 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,864,766...39,956,902 		JBrowse link
G G3bp1 G3BP stress granule assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,087,533...40,120,931
Ensembl chr10:40,087,533...40,120,931 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital 		CTD
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815 		JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		JBrowse link
G Gm2a ganglioside GM2 activator ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,719,938...39,732,451 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:24225367 PMID:25741868 PMID:28492532 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056 		JBrowse link
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,825,023...39,858,066 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,778,693...39,806,773 		JBrowse link
G Slc36a3 solute carrier family 36, member 3 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,744,290...39,771,261 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:129,861,977...130,016,870 		JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:152,972,579...153,477,080
Ensembl chr  X:152,972,581...153,477,080 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 5:166,791,639...167,639,502
Ensembl chr 5:166,793,101...167,639,733 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 More... NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:24,353,217...24,480,798 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
Tetany term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap5 A-kinase anchoring protein 5 IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:12542670 RGD:2313247 NCBI chr 6:100,787,169...100,796,712
Ensembl chr 6:100,790,148...100,796,620 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr 1:255,585,063...255,709,455
Ensembl chr 1:255,585,095...255,704,849 		JBrowse link
Thakker-Donnai Syndrome 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 chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
Three M Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition | ClinVar Annotator: match by term: Three M syndrome 1 OMIM
ClinVar		 PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21383554 More... NCBI chr 9:21,816,703...21,830,344
Ensembl chr 9:21,816,703...21,830,344 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415 		JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: Three M syndrome 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16199547 PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 More... NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415 		JBrowse link
Three M Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: 3M syndrome 3 | ClinVar Annotator: match by term: CCDC8-related condition OMIM
ClinVar		 PMID:21737058 PMID:22325252 PMID:23018678 PMID:25741868 PMID:28492532 More... NCBI chr 1:86,807,607...86,810,935
Ensembl chr 1:86,806,942...86,814,204 		JBrowse link
Trismus 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:7378868 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:34102099 NCBI chr19:54,654,101...54,740,586
Ensembl chr19:54,620,807...54,740,586 		JBrowse link
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:34102099 NCBI chr19:54,654,101...54,740,586
Ensembl chr19:54,620,807...54,740,586 		JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: ARNT2-related condition | ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar		 PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr 1:147,645,354...147,801,986
Ensembl chr 1:147,599,058...147,801,997 		JBrowse link
WHITE-KERNOHAN SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO ClinVar Annotator: match by term: White-Kernohan syndrome OMIM
ClinVar		 PMID:25741868 PMID:33743206 NCBI chr 1:216,677,810...216,703,605
Ensembl chr 1:216,677,810...216,703,596 		JBrowse link
Wieacker-Wolff 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 ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:64,535,241...64,556,042 		JBrowse link
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16 ClinVar PMID:2563148 PMID:25741868 PMID:26235985 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:12,152,346...12,165,983 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:24,821,568...24,866,423
Ensembl chr  X:24,824,859...24,866,423 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13670
      Signs and Symptoms 11240
        Neurologic Manifestations 10485
          Neuromuscular Manifestations 813
            Fasciculation + 2
            Muscle Cramp + 4
            Muscle Hypertonia + 159
            Muscle Hypotonia + 291
            Muscle Weakness + 284
            Myokymia + 21
            Myotonia + 6
            Spasm + 12
            Tetany 2
            muscular atrophy + 84
paths to the root