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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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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 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: therapeutic CTD PMID:30476904 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17023870 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 PMID:8503454 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
3-M syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISS OMIM:273750 | OMIM:612921 | OMIM:614205 MouseDO NCBI chr 1:77,679,521...77,682,849
Ensembl chr 1:77,679,218...77,683,090
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by OMIM:273750
ClinVar Annotator: match by term: 3-M syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Yakut short stature syndrome
ClinVar
CTD
PMID:17675530 PMID:28492532 NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO
ISS
ClinVar Annotator: match by term: Three M syndrome
OMIM:273750 | OMIM:612921 | OMIM:614205
ClinVar
MouseDO
NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
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: AL-RAQAD SYNDROME
OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 8:33,468,669...33,524,407 JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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 PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: Mental retardation and muscular atrophy
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
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 OMIM
ClinVar
PMID:33783914 NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
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 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
autosomal dominant mental retardation 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
ClinVar Annotator: match by OMIM:613443
OMIM
ClinVar
PMID:7679508 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar
OMIM
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
ClinVar Annotator: match by OMIM:121200
OMIM
ClinVar
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
Birk-Barel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO ClinVar Annotator: match by term: Birk-Barel syndrome
ClinVar Annotator: match by term: Birk Barel mental retardation dysmorphism syndrome
ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome
ClinVar Annotator: match by OMIM:612292
OMIM
ClinVar
PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175
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 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441
OMIM
ClinVar
PMID:22422768 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25922419 More... NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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: Cerebroretinal microangiopathy with calcifications and cysts 2
ClinVar
OMIM
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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 chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia ClinVar
OMIM
PMID:24334290 NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:28492532 NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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 chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3
ClinVar Annotator: match by term: PERCHING syndrome
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar PMID:25741868 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 More... NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM
ClinVar
PMID:17067864 PMID:25741868 PMID:30827498 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
Desanto-Shinawi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME
ClinVar Annotator: match by term: Desanto-shinawi syndrome
ClinVar
OMIM
PMID:25741868 PMID:26264232 PMID:26757981 PMID:29190062 NCBI chr17:55,922,686...55,984,286
Ensembl chr17:55,923,123...55,982,301
JBrowse link
developmental and epileptic encephalopathy 77 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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
OMIM
ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8
ClinVar Annotator: match by OMIM:300607
OMIM
ClinVar
PMID:9536098 PMID:15215304 PMID:16199547 PMID:17576681 PMID:17893116 More... NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 ClinVar
OMIM
PMID:31412107 NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
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 PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by OMIM:158300
OMIM
ClinVar
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
ClinVar Annotator: match by term: Dystonia 9
DNA:missense mutation:exon: p.R212C (c.634C>T) (human)
OMIM
ClinVar
PMID:8808284 PMID:10980529 PMID:11477212 PMID:12325075 PMID:16217704 More... RGD:12879478 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,626,438...159,650,327 JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia
ClinVar Annotator: match by OMIM:160120
OMIM
ClinVar
PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245 More... RGD:10047237 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
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:28492532 NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,759,454...159,772,524
Ensembl chr 4:159,759,459...159,772,524
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
Familial Dyskinesia with Facial Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia
ClinVar Annotator: match by OMIM:606703
OMIM
ClinVar
PMID:11310626 PMID:22782511 PMID:24700542 PMID:25326635 PMID:25545163 More... NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Tongue fasciculation ClinVar PMID:25741868 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
PMID:10982179 PMID:17334363 PMID:18414213 PMID:20301719 PMID:23757202 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 ClinVar
OMIM
PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,079,653...9,081,259
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:15879500 PMID:19763152 PMID:20307669 PMID:21398687 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
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 chr13:87,613,610...87,615,475
Ensembl chr13:87,589,298...87,619,862
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 chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
ClinVar Annotator: match by term: Fumaric aciduria
ClinVar Annotator: match by term: Fumarate Hydratase Deficiency
ClinVar Annotator: match by OMIM:606812
OMIM
ClinVar
PMID:2314594 PMID:8007976 PMID:8200987 PMID:9300800 PMID:9536098 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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 chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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 chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847
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 chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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 chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000
OMIM
ClinVar
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:34,170,959...34,293,498 JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar Annotator: match by OMIM:261750
OMIM
ClinVar
PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr19:21,013,719...21,210,672
Ensembl chr19:21,025,733...21,210,633
JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by OMIM:613027
ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559
OMIM
ClinVar
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
ClinVar
OMIM
PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
ClinVar Annotator: match by OMIM:611773
OMIM
ClinVar
PMID:17030722 PMID:18077766 PMID:18160688 PMID:19477666 PMID:20385946 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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 chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
hyperekplexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO
ISS
ClinVar Annotator: match by term: Hyperekplexia ClinVar
MouseDO
NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia hereditary ClinVar PMID:12684523 PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
JBrowse link
hyperekplexia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Hyperekplexia 1 OMIM
ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
JBrowse link
G Gphn gephyrin ISS
ISO
OMIM:149400
ClinVar Annotator: match by term: Hyperekplexia 1
MouseDO
ClinVar
PMID:12684523 PMID:25741868 PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
hyperekplexia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia 2
ClinVar Annotator: match by OMIM:614619
OMIM
ClinVar
PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
JBrowse link
hyperekplexia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia 3
ClinVar Annotator: match by OMIM:614618
OMIM
ClinVar
PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 PMID:22700964 More... NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
JBrowse link
hyperekplexia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: HYPEREKPLEXIA 4 ClinVar
OMIM
PMID:25741868 PMID:28180185 PMID:29390050 PMID:29659736 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
ClinVar Annotator: match by term: EBF3-related disorder
ClinVar
OMIM
PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28487885 More... NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
OMIM
ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation
ClinVar
OMIM
PMID:25741868 PMID:26358778 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism
OMIM
ClinVar
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29610177 More... RGD:12914762, RGD:12911215 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by OMIM:616801
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 More... RGD:11528248 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy
ClinVar
OMIM
PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 More... NCBI chr 2:221,175,749...221,348,126
Ensembl chr 2:221,175,785...221,348,126
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM
PMID:25741868 PMID:30905399 NCBI chr12:8,737,198...8,805,026 JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)
ClinVar Annotator: match by OMIM:300804
OMIM
ClinVar
PMID:16783569 PMID:18546297 PMID:19800048 PMID:20301500 PMID:22353940 More... RGD:11535965, RGD:11535963 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar Annotator: match by OMIM:608629
ClinVar
OMIM
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:9054934 PMID:9295268 PMID:9973280 PMID:11017087 PMID:12037008 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 5
ClinVar Annotator: match by OMIM:610188
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11537352, RGD:7246903 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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:30740830 PMID:32754646 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
ClinVar Annotator: match by OMIM:611369
OMIM
ClinVar
PMID:17701898 PMID:25741868 NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988
JBrowse link
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: LEMSPAD SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32197074 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miles-Carpenter syndrome
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
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 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by OMIM:254130
ClinVar Annotator: match by term: Miyoshi muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
ClinVar Annotator: match by term: Miyoshi myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar
OMIM
PMID:2764718 PMID:8808603 PMID:9731526 PMID:10196377 PMID:11053681 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 More... NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3
ClinVar Annotator: match by term: Miyoshi myopathy 3
DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:21186264 More... RGD:11570558 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:24033266 PMID:24253414 PMID:26394714 PMID:27038415 PMID:28492532 NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by OMIM:614080
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21493957 PMID:24033266 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by OMIM:300868
OMIM
ClinVar
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 More... NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: PIGT-related disorder
ClinVar Annotator: match by OMIM:615398
OMIM
ClinVar
PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
Muscle Cramp 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 cramps ClinVar PMID:3490596 PMID:21675912 PMID:22047571 PMID:23001465 PMID:23485543 More... NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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 OMIA PMID:6868317 PMID:21821125 PMID:22253609 PMID:30650096 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:2862618 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Muscle hypertonia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Hypotonia
ClinVar Annotator: match by term: Muscle hypotonia
ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:25741868 NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:25741868 PMID:33217309 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO RGD PMID:11230174 RGD:734884 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:22544365 PMID:23564332 PMID:23975261 PMID:24524299 PMID:25149867 More... NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: hypotonia ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Heatr4 HEAT repeat containing 4 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:103,574,360...103,611,578
Ensembl chr 6:103,574,366...103,612,100
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 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868 PMID:32467598 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:25558065 PMID:27311568 NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular hypotonia
ClinVar Annotator: match by term: Decreased muscle tone
ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:32581362 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Decreased muscle tone ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:24033266 PMID:25741868 PMID:26729329 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Muscle hypotonia ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355
JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 PMID:30275004 NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
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 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17368676 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:10675796 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:8036282 NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:25741868 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17220914 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25741868 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:25025039 NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle spasticity ClinVar NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
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 chr10:101,406,197...101,431,242
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19309692 PMID:20576434 PMID:20976770 PMID:21280092 PMID:24033266 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscular weakness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:26930420 PMID:30074247 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:14506069 PMID:25741868 PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness
CTD
ClinVar
PMID:15111675 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:8528245 PMID:12039972 PMID:17329572 PMID:18391953 PMID:21415153 More... NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO Diaphragm Weakness RGD PMID:21097524 RGD:5130943 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17444505 NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
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 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEP mRNA:decreased expression:skeletal muscle tissue RGD PMID:17029665 RGD:2325745 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO RGD PMID:23792145 RGD:10059412 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868 PMID:31227654 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased phosphorylation:gastrocnemius (rat) RGD PMID:24711688 RGD:11570530 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19032942 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:17916675 RGD:7257536 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IDA RGD PMID:21235761 RGD:5130936 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:soleus (rat) RGD PMID:16928772 RGD:2315576 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Dmd dystrophin IEP RGD PMID:12107060 RGD:625642 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Endog endonuclease G IEP RGD PMID:15650125 RGD:9685359 NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
JBrowse link
G Fbxo32 F-box protein 32 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 7:89,731,626...89,764,761
Ensembl chr 7:89,730,232...89,765,436
JBrowse link
G Fst follistatin ISO CTD Direct Evidence: therapeutic CTD PMID:33034787 NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8937196 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor IEP mRNA:increased expression:soleus RGD PMID:12865352 RGD:2307376 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:21983076 RGD:10402941 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723379 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868 NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
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 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:10,826,032...10,827,048 JBrowse link
G Mtmr4 myotubularin related protein 4 IEP protein:decreased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:19260063 RGD:10041027 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase IEP protein:increased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP protein:altered expression:nucleus RGD PMID:17622304 RGD:4892297 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA protein:decreased localization:soleus, nucleus RGD PMID:11919155 RGD:7777164 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:decreased expression, decreased phosphorylation:soleus RGD PMID:17885021 RGD:1642984 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:muscle RGD PMID:19574431 RGD:4144861 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sgca sarcoglycan, alpha IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24163136 PMID:29374221 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tfrc transferrin receptor IEP mRNA:decreased expression:gastrocnemius RGD PMID:18395385 RGD:2292027 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 IEP RGD PMID:20943961 RGD:13463487 NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24534773 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 IEP RGD PMID:20943961 RGD:13463487 NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
JBrowse link
G Trim63 tripartite motif containing 63 IEP
ISO
mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism
CTD PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24550007 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar
OMIM
PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024
JBrowse link
Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
IAGP
ClinVar Annotator: match by term: Myokymia ClinVar PMID:26467025 PMID:28492532 PMID:22206926 RGD:10047237 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
myopathy with extrapyramidal signs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micu1 mitochondrial calcium uptake 1 ISO ClinVar Annotator: match by term: Myopathy with extrapyramidal signs OMIM
ClinVar
PMID:24033266 PMID:24336167 PMID:25741868 PMID:28708303 PMID:29721912 More... NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
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:7581380 PMID:7874130 PMID:8533761 PMID:8845168 PMID:8857727 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
JBrowse link
G Dmpk DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24039817 NCBI chr 2:144,639,819...144,814,395
Ensembl chr 2:144,670,285...144,814,368
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myotonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myotonia
CTD
ClinVar
PMID:8308722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
OMIM
ClinVar
PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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
OMIM
PMID:25741868 PMID:33015733 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ClinVar
OMIM
PMID:28763441 NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740
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: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA OMIM
ClinVar
PMID:28940097 PMID:29302074 PMID:32761064 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
ClinVar
OMIM
PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
OMIM
ClinVar
PMID:25741868 PMID:30929742 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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 ClinVar
OMIM
PMID:32220290 NCBI chr 2:241,630,021...241,715,493
Ensembl chr 2:241,630,053...241,716,134
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: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:31353023 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531
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
OMIM
PMID:25741868 PMID:28940097 PMID:29808498 PMID:29987015 PMID:30520571 More... NCBI chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684
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 ClinVar
OMIM
PMID:25741868 PMID:32220291 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar
OMIM
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
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 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA ClinVar
OMIM
PMID:25741868 PMID:28195318 PMID:28492532 PMID:29130632 PMID:30976111 NCBI chr 8:107,552,462...107,903,527
Ensembl chr 8:107,552,463...107,903,514
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: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
ClinVar
OMIM
PMID:25741868 PMID:31586943 PMID:31735293 NCBI chr 3:69,754,937...69,762,587
Ensembl chr 3:69,754,939...69,762,587
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 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080
JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
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: Cerebral palsy, spastic quadriplegic, 1 ClinVar PMID:9084927 PMID:15571623 PMID:22662185 PMID:25741868 PMID:28492532 More... NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
OMIM
ClinVar
PMID:9084927 PMID:9973289 PMID:15571623 PMID:32707086 PMID:33634263 More... NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
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: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ClinVar
OMIM
PMID:27435318 PMID:28097321 PMID:32286009 NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
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: Neurodevelopmental disorder with spasticity and poor growth
ClinVar
OMIM
PMID:25741868 PMID:27431290 PMID:29868776 NCBI chr13:83,709,330...83,719,762
Ensembl chr13:83,709,330...83,716,076
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 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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 ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:611126
OMIM
ClinVar
CTD
PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25721401 PMID:27233227 More... NCBI chr 4:120,126,565...120,181,575 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: Osteosclerotic metaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar Annotator: match by term: Polyglucosan body myopathy, early-onset, with or without immunodeficiency
ClinVar
OMIM
PMID:2379848 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18691923 More... NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
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 3:140,581,593...140,593,299
Ensembl chr 3:140,581,593...140,593,299
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 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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 3:140,604,490...140,610,050
Ensembl chr 3:140,599,608...140,628,448
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766
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 OMIM:616199
ClinVar Annotator: match by term: Polyglucosan body myopathy 2
ClinVar
OMIM
PMID:20357282 PMID:24033266 PMID:25272951 PMID:25741868 PMID:26652229 More... NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
JBrowse link
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL 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
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ClinVar
OMIM
PMID:25741868 PMID:29053800 PMID:31727539 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1
ClinVar Annotator: match by OMIM:607426
OMIM
ClinVar
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17855635 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
JBrowse link
G Coq8a coenzyme Q8A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1
CTD
ClinVar
PMID:18319072 PMID:24033266 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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: Coenzyme Q10 deficiency, primary, 2 ClinVar NCBI chr17:85,098,837...85,179,829
Ensembl chr17:85,098,550...85,179,792
JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2
ClinVar Annotator: match by OMIM:614651
OMIM
ClinVar
PMID:17332895 PMID:22494076 PMID:25264263 PMID:25741868 PMID:28492532 NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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 OMIM
ClinVar
PMID:17186472 PMID:17374725 PMID:20495179 PMID:25741868 PMID:28492532 NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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 chr13:91,683,775...91,903,732
Ensembl chr13:91,684,007...91,903,732
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar Annotator: match by OMIM:612016
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12682339 PMID:15326254 PMID:18319072 PMID:18319074 PMID:18414213 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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: Coenzyme Q10 deficiency, primary, 5
ClinVar Annotator: match by OMIM:614654
OMIM
ClinVar
PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 PMID:23255162 More... NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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: Coenzyme Q10 deficiency, primary, 6
ClinVar Annotator: match by OMIM:614650
OMIM
ClinVar
PMID:21540551 PMID:24140869 PMID:25741868 PMID:28117207 PMID:30682496 NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6
ClinVar PMID:21540551 PMID:24140869 PMID:25741868 PMID:28117207 PMID:30682496 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6 ClinVar PMID:25741868 NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 OMIM
ClinVar
PMID:22368301 PMID:25658047 PMID:25741868 PMID:26185144 PMID:26795593 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,118,623...13,118,722
Ensembl chr 3:13,118,623...13,118,722
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642
Ensembl chr 3:13,092,200...13,117,642
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: Coenzyme Q10 deficiency, primary, 8 ClinVar
OMIM
PMID:25741868 PMID:26084283 PMID:31240163 PMID:32963807 NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
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: COENZYME Q10 DEFICIENCY, PRIMARY, 9 OMIM
ClinVar
PMID:29044765 NCBI chr12:41,316,922...41,333,855
Ensembl chr12:41,316,748...41,333,848
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
CTD
ClinVar
OMIM
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28492532 More... NCBI chr11:57,052,129...57,823,679
Ensembl chr11:57,072,880...57,510,210
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