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
Accession: DOID:9000165
browse the term
Definition: Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.
Synonyms: exact_synonym: Muscle Disease Manifestation; Muscle Disease Manifestations; Neuromuscular Manifestation; Neuromuscular Signs and Symptoms
primary_id: MESH:D020879
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Angpt1
angiopoietin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30476904
NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:75,418,218...75,668,696
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Lamc1
laminin subunit gamma 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30476904
NCBI chr13:67,924,872...68,051,986
Ensembl chr13:67,924,872...68,051,986
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Snap25
synaptosome associated protein 25
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17023870
NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2876430 PMID:8503454
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413
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Cul7
cullin 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome
CTD ClinVar
PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21396581 PMID:21548126 PMID:22974575 PMID:23018678 PMID:23900270 PMID:24793695 PMID:24793696 PMID:25741868 PMID:28492532 PMID:28969986 PMID:31343991 PMID:31589614 PMID:34006472 More...
NCBI chr 9:21,816,703...21,830,344
Ensembl chr 9:21,816,703...21,830,344
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: 3-M syndrome
ClinVar
PMID:25741868
NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415
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Dcps
decapping enzyme, scavenger
ISO
ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition
OMIM ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 PMID:32623794 PMID:36029130 More...
NCBI chr 8:41,729,507...41,782,222
Ensembl chr 8:41,724,563...41,782,222
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Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32017898 PMID:33356342 PMID:35270292 More...
NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition
OMIM ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532
NCBI chr12:22,169,570...22,178,031
Ensembl chr12:22,168,718...22,177,938
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Slc16a2
solute carrier family 16 member 2
ISO ISS
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy | ClinVar Annotator: match by term: SLC16A2-related condition OMIM:300523 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16131597 PMID:16417886 PMID:16957765 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:21836662 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:30369548 PMID:30497070 PMID:31127274 PMID:31410843 PMID:31585110 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33141165 PMID:33504798 PMID:33847015 PMID:33860439 PMID:39825153 More...
NCBI chr X:72,791,096...72,914,299
Ensembl chr X:72,781,876...72,914,498
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Pou4f1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition
OMIM ClinVar
PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914
NCBI chr15:87,668,328...87,674,643
Ensembl chr15:87,668,328...87,674,643
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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 PMID:31692161 More...
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Au-Kline syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:75,159,782...75,267,093
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
ISO
ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition
OMIM ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28492532 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 PMID:39033378 More...
NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,268,385...6,280,565
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr12:43,468,556...43,665,819
Ensembl chr12:43,468,556...43,665,819
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Okamoto syndrome
ClinVar
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:10878807 PMID:11331612 PMID:11331613 PMID:12000816 PMID:12097293 PMID:12393546 PMID:12414898 PMID:12844285 PMID:12944410 PMID:15574766 PMID:15642680 PMID:16452184 PMID:16585181 PMID:17700531 PMID:17898043 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:19906784 PMID:23772956 PMID:25741868 PMID:26845104 PMID:26846855 PMID:27517496 PMID:28235946 PMID:28492532 PMID:28873162 PMID:30890701 PMID:31980715 PMID:34628056 PMID:35668420 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991
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Hyal3
hyaluronidase 3
ISO
ClinVar Annotator: match by term: Auroneurodental syndrome
ClinVar
PMID:34805998
NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:117,132,649...117,139,289
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Naa80
N(alpha)-acetyltransferase 80, NatH catalytic subunit
ISO
ClinVar Annotator: match by term: Auroneurodental syndrome
ClinVar
PMID:34805998
NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:117,133,494...117,136,207
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Naa20
N(alpha)-acetyltransferase 20, NatB catalytic subunit
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73
OMIM ClinVar
PMID:25741868
NCBI chr 3:153,775,351...153,790,129
Ensembl chr 3:153,775,338...153,790,916
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES | ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of
CTD OMIM ClinVar
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:17576681 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27890673 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:30165240 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37091313 PMID:37196654 PMID:38703036 More...
NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1
ClinVar
NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
OMIM ClinVar
PMID:2753503 PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9536098 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 PMID:20437616 PMID:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23849776 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27054081 PMID:27334371 PMID:27479843 PMID:27535030 PMID:27564677 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28488083 PMID:28492532 PMID:28602030 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29760947 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:30552426 PMID:30669290 PMID:30776697 PMID:31019026 PMID:31105003 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:31832524 PMID:32139178 PMID:32179837 PMID:32184343 PMID:32362866 PMID:32573669 PMID:32581362 PMID:32770121 PMID:32860008 PMID:32917465 PMID:33333793 PMID:33336127 PMID:33659638 PMID:33754465 PMID:33897753 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34474328 PMID:34711204 PMID:35104249 PMID:35401395 PMID:35468861 PMID:35557555 PMID:35571021 PMID:35627257 PMID:35642783 PMID:35813072 PMID:36380967 PMID:36849527 PMID:37593999 PMID:38074073 PMID:38160512 PMID:39825153 More...
NCBI chr 3:188,572,345...188,631,391
Ensembl chr 3:188,572,926...188,631,302
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Kcnk9
potassium two pore domain channel subfamily K member 9
ISO
ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome | ClinVar Annotator: match by term: KCNK9-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 PMID:28333430 PMID:28492532 PMID:28882594 PMID:29165669 PMID:30690205 PMID:35698242 PMID:39825153 More...
NCBI chr 7:106,316,783...106,362,452
Ensembl chr 7:106,326,684...106,361,921
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Trpm3
transient receptor potential cation channel, subfamily M, member 3
ISO
ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism
ClinVar
PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 PMID:32439617 PMID:34438093 PMID:35146895 PMID:36100855 More...
NCBI chr 1:229,099,741...229,984,172
Ensembl chr 1:229,099,542...229,984,172
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Rbl2
RB transcriptional corepressor like 2
ISO
ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome | ClinVar Annotator: match by term: RBL2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32105419
NCBI chr19:32,049,690...32,096,467
Ensembl chr19:32,049,691...32,096,411
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY
ClinVar
PMID:28492532 PMID:31448845
NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099
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Trdn
triadin
ISO
ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: TRDN-related condition | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
OMIM ClinVar
PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:22422768 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:27848944 PMID:28341588 PMID:28406212 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32402482 PMID:32746448 PMID:33432171 PMID:33692971 PMID:34415104 PMID:35932045 PMID:36203036 PMID:36725176 PMID:38489124 More...
NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717
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Ctc1
CST telomere replication complex component 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome
CTD ClinVar
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147
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Stn1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
OMIM ClinVar
PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23220793 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:31069529 PMID:32483926 PMID:33510405 PMID:33528536 PMID:34573280 PMID:34706368 PMID:35982159 PMID:37216690 More...
NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
ClinVar
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
NCBI chr10:54,189,157...54,210,685
Ensembl chr10:54,189,157...54,207,272
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Stn1
STN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition
OMIM ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276
NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24686846 PMID:25482530 PMID:25741868 PMID:26467025 PMID:27013236 PMID:27329137 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29523635 PMID:29625052 PMID:30523342 PMID:32155570 PMID:32976206 PMID:34193977 PMID:36539277 PMID:36876055 More...
NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543
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Ankfy1
ankyrin repeat and FYVE domain containing 1
ISS
OMIM:270550
MouseDO
NCBI chr10:57,810,781...57,882,495
Ensembl chr10:57,810,781...57,882,495
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
ClinVar
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28767289 PMID:29368341 PMID:29522266 More...
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565
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Sacs
sacsin molecular chaperone
ISO ISS
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition OMIM:270550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16199547 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22209141 PMID:22287014 PMID:22307627 PMID:22411849 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:23785480 PMID:24030952 PMID:24033266 PMID:24108619 PMID:24123366 PMID:24164681 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24418350 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:26633542 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27412140 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27974811 PMID:27980752 PMID:28050010 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29093530 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29449188 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:29970176 PMID:30271475 PMID:30311378 PMID:30460542 PMID:30638817 PMID:30665703 PMID:30680480 PMID:30840144 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31146700 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31636600 PMID:31637422 PMID:31673878 PMID:31681433 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32625235 PMID:32709422 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34085946 PMID:34121011 PMID:34426522 PMID:34429451 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35328054 PMID:35499206 PMID:35578252 PMID:35731353 PMID:35904974 PMID:36233161 PMID:36600740 PMID:36833258 PMID:36905089 PMID:37926714 PMID:38261029 PMID:38361118 PMID:38534332 PMID:38703036 PMID:38911600 PMID:38928084 PMID:39825153 More...
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419
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Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:39,564,920...39,611,149
Ensembl chr15:39,564,923...39,611,149
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
PMID:25326637 PMID:28492532
NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260
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Glrx5
glutaredoxin 5
ISO
ClinVar Annotator: match by term: GLRX5-related condition | ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia
OMIM ClinVar
PMID:24334290 PMID:25741868 PMID:28492532
NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type
ClinVar
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532
NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
ClinVar
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:23758206 PMID:24988567 PMID:25349199 PMID:25525159 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 PMID:30613928 More...
NCBI chr14:9,245,777...9,265,784
Ensembl chr14:9,245,803...9,265,783
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
ClinVar
PMID:18319074 PMID:19440741 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26764160 PMID:27535533 PMID:27884173 PMID:28492532 PMID:29255295 PMID:32337771 PMID:32958805 More...
NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378
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Coq9
coenzyme Q9
ISS ISO
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
MouseDO ClinVar
NCBI chr19:10,172,943...10,185,960
Ensembl chr19:10,172,949...10,185,937
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Pdss1
decaprenyl diphosphate synthase subunit 1
ISO
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:89,964,768...90,006,819
Ensembl chr17:89,968,034...90,006,817
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Pdss2
decaprenyl diphosphate synthase subunit 2
ISS ISO
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
MouseDO ClinVar
NCBI chr20:48,291,788...48,520,846
Ensembl chr20:48,291,797...48,535,689
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Ankrd46
ankyrin repeat domain 46
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,532,303...69,553,311
Ensembl chr 7:69,532,304...69,545,421
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Atp6v1c1
ATPase H+ transporting V1 subunit C1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,719,326...71,757,191
Ensembl chr 7:71,719,404...71,757,184
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Azin1
antizyme inhibitor 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,539,711...71,566,515
Ensembl chr 7:71,539,711...71,566,515
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Baalc
BAALC binder of MAP3K1 and KLF4
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,803,640...71,877,608
Ensembl chr 7:71,774,898...71,879,261
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Cox6c
cytochrome c oxidase subunit 6C
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,014,410...69,027,145
Ensembl chr 7:69,014,417...69,027,166
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Cthrc1
collagen triple helix repeat containing 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,007,372...72,017,654
Ensembl chr 7:72,007,372...72,017,654
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Dcaf13
DDB1 and CUL4 associated factor 13
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,045,828...72,081,039
Ensembl chr 7:72,045,872...72,083,629
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Dcstamp
dendrocyte expressed seven transmembrane protein
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,692,364...72,706,983
Ensembl chr 7:72,671,477...72,707,009
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Dpys
dihydropyrimidinase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,707,566...72,814,183
Ensembl chr 7:72,721,048...72,814,142
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Fbxo43
F-box protein 43
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,218,298...69,231,873
Ensembl chr 7:69,218,299...69,230,310
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,939,916...71,971,685
Ensembl chr 7:71,939,973...71,971,680
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Grhl2
grainyhead-like transcription factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,280,360...70,415,277
Ensembl chr 7:70,285,310...70,415,274
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Kcns2
potassium voltage-gated channel, modifier subfamily S, member 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:67,907,492...67,913,562
Ensembl chr 7:67,906,467...67,931,276
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Klf10
KLF transcription factor 10
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,352,612...71,358,680
Ensembl chr 7:71,350,573...71,358,948
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Lrp12
LDL receptor related protein 12
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,825,979...72,897,308
Ensembl chr 7:72,825,979...72,897,171
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Mir875
microRNA 875
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:68,747,106...68,747,178
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Myo7a
myosin VIIA
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365
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Ncald
neurocalcin delta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,417,683...70,849,763
Ensembl chr 7:70,419,433...70,849,482
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Nipal2
NIPA-like domain containing 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,659,628...67,771,105
Ensembl chr 7:67,659,628...67,769,959
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Odf1
outer dense fiber of sperm tails 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,262,270...71,274,621
Ensembl chr 7:71,266,838...71,274,620
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Osr2
odd-skipped related transcription factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:68,372,500...68,380,195
Ensembl chr 7:68,373,049...68,380,805
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Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:69,663,068...69,675,050
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Polr2k
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,241,233...69,244,579
Ensembl chr 7:69,232,179...69,244,578
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,590,502...67,618,187
Ensembl chr 7:67,590,522...67,618,293
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Rgs22
regulator of G-protein signaling 22
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,073,681...69,194,041
Ensembl chr 7:69,075,562...69,194,102
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Rims2
regulating synaptic membrane exocytosis 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,133,004...72,644,059
Ensembl chr 7:72,133,170...72,645,499
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Rnf19a
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:69,310,947...69,350,225
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
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Slc25a32
solute carrier family 25 member 32
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:72,024,535...72,045,692
Ensembl chr 7:72,007,975...72,045,647
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Snx31
sorting nexin 31
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,560,948...69,662,015
Ensembl chr 7:69,553,205...69,617,396
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Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:69,246,301...69,306,483
Ensembl chr 7:69,246,582...69,306,482
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Stk3
serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:67,938,341...68,208,472
Ensembl chr 7:67,938,378...68,208,508
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Ubr5
ubiquitin protein ligase E3 component n-recognin 5
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:71,000,197...71,109,813
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Vps13b
vacuolar protein sorting 13 homolog B
ISO ISS
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8325895 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21353197 PMID:21659346 PMID:21850686 PMID:21865173 PMID:21924244 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25735649 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26193622 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30602132 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33584783 PMID:33908178 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 PMID:34426522 PMID:35052368 PMID:35488281 PMID:35599849 PMID:35690661 PMID:37690893 More...
NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,826,404...69,848,702
Ensembl chr 7:69,826,404...69,849,007
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Zfp706
zinc finger protein 706
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,050,960...70,059,588
Ensembl chr 7:70,052,534...70,059,159
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041
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Clcf1
cardiotrophin-like cytokine factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
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Crlf1
cytokine receptor-like factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
CTD ClinVar
PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:27976805 PMID:28492532 PMID:31497877 More...
NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970
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Klhl7
kelch-like family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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Crlf1
cytokine receptor-like factor 1
ISO
ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
OMIM ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970
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Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
ClinVar
PMID:21828050 PMID:25741868 PMID:27392078 PMID:30300710 PMID:31230720 PMID:31953236 More...
NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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Clcf1
cardiotrophin-like cytokine factor 1
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2
OMIM ClinVar
PMID:16782820 PMID:20400119 PMID:25741868
NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
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Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21828050 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31230720 PMID:31953236 PMID:35670385 PMID:35699517 PMID:39825153 More...
NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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Avil
advillin
ISO
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
ClinVar
PMID:25741868
NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:64,711,403...64,729,436
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25078778 PMID:25741868 PMID:27677415 PMID:28074886 PMID:28492532 PMID:29261183 PMID:30911037 PMID:31267352 PMID:33816677 PMID:38703036 More...
NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:64,714,036...64,750,171
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: ATN1-related condition | ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
OMIM ClinVar
PMID:17067864 PMID:25741868 PMID:30827498 PMID:39825153
NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418
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Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
OMIM ClinVar
PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27473021 PMID:27633718 PMID:27681385 PMID:28327206 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 PMID:31409833 PMID:32618095 PMID:32668698 PMID:32698188 More...
NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
ClinVar
PMID:25741868
NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
ClinVar
PMID:25741868
NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
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Wac
WW domain containing adaptor with coiled-coil
ISO
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition
OMIM ClinVar
PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 PMID:28492532 PMID:29190062 More...
NCBI chr17:60,617,702...60,677,771
Ensembl chr17:60,617,544...60,679,267
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Amer1
APC membrane recruitment protein 1
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
ClinVar
PMID:28492532
NCBI chr X:64,310,492...64,326,377
Ensembl chr X:64,300,953...64,326,332
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Arhgef9
Cdc42 guanine nucleotide exchange factor 9
ISO ISS
OMIM:300607 ClinVar Annotator: match by term: ARHGEF9-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:22612257 PMID:23033978 PMID:25568878 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28620718 PMID:28708303 PMID:29130122 PMID:30914922 PMID:31054490 PMID:31069529 PMID:31440721 PMID:31780880 PMID:32005694 PMID:32593896 PMID:32860008 PMID:32939676 PMID:33504798 PMID:33860439 PMID:35217970 PMID:35638461 PMID:37541188 More...
NCBI chr X:63,929,168...64,087,267
Ensembl chr X:63,929,176...64,087,104
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Asb12
ankyrin repeat and SOCS box-containing 12
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
ClinVar
PMID:28492532
NCBI chr X:64,338,223...64,487,615
Ensembl chr X:64,338,225...64,425,500
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
ClinVar
PMID:28492532
NCBI chr X:64,525,725...64,556,037
Ensembl chr X:64,535,241...64,556,042
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Golga2
golgin A2
ISO
ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities | ClinVar Annotator: match by term: GOLGA2-related condition
OMIM ClinVar
PMID:25741868 PMID:30237576 PMID:34424553
NCBI chr 3:35,981,783...36,002,023
Ensembl chr 3:35,981,499...36,002,022
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition
OMIM ClinVar
PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:30510140 PMID:35395208 More...
NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:172,447,738...172,609,591
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Srcap
Snf2-related CREBBP activator protein
ISO
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
OMIM ClinVar
PMID:10615133 PMID:11522779 PMID:18414213 PMID:20358590 PMID:20702822 PMID:21474771 PMID:22265015 PMID:22965468 PMID:23193612 PMID:23621943 PMID:24970356 PMID:25433523 PMID:25590979 PMID:25741868 PMID:27208210 PMID:28492532 PMID:31200758 PMID:33909990 More...
NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265
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Gsx2
GS homeobox 2
ISO
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2
OMIM ClinVar
PMID:25741868 PMID:31412107
NCBI chr14:33,477,968...33,480,320
Ensembl chr14:33,477,968...33,480,320
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
ClinVar
PMID:3495735 PMID:4750422 PMID:7606779 PMID:8653794 PMID:9054436 PMID:9536098 PMID:11536364 PMID:11754102 PMID:12511552 PMID:16199547 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24035709 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:28166811 PMID:28492532 PMID:28518168 PMID:28831199 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32277046 PMID:32381728 PMID:32461654 PMID:33029862 PMID:33190788 PMID:33435129 PMID:33571691 PMID:34008892 PMID:35360850 PMID:35583931 PMID:35830949 More...
NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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Myh8
myosin heavy chain 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
OMIM CTD ClinVar RGD
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532 PMID:17041932 More...
RGD:12914760
NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:24700542 PMID:25741868 PMID:26085604 PMID:26537056 PMID:28492532 PMID:28511835 PMID:30772269 More...
NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant
OMIM ClinVar
PMID:152174 PMID:1003446 PMID:11310626 PMID:11445636 PMID:16199547 PMID:16537460 PMID:22782511 PMID:24700542 PMID:25326635 PMID:25521004 PMID:25545163 PMID:25741868 PMID:25790160 PMID:26085604 PMID:26537056 PMID:26686870 PMID:27061943 PMID:27931826 PMID:28442302 PMID:28492532 PMID:28511835 PMID:28971144 PMID:30772269 PMID:30975617 PMID:31181574 PMID:31501304 PMID:31731261 PMID:32627162 PMID:32713175 PMID:34631954 More...
NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28971144 PMID:30975617
NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343
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Slc2a1
solute carrier family 2 member 1
susceptibility
ISO
DNA:missense mutation:exon: p.R212C (c.634C>T) (human) ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 PMID:15132717 PMID:15622525 PMID:16217704 PMID:16949238 PMID:17052934 PMID:17576681 PMID:17718830 PMID:18414213 PMID:18451999 PMID:19630075 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21546317 PMID:21555602 PMID:21832227 PMID:21865127 PMID:22011817 PMID:22622956 PMID:22704013 PMID:22976442 PMID:23106342 PMID:23280796 PMID:23306390 PMID:23340081 PMID:23448551 PMID:24215330 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26216499 PMID:26467025 PMID:26537434 PMID:26598494 PMID:26615598 PMID:26982753 PMID:27351150 PMID:27843123 PMID:28018440 PMID:28102150 PMID:28116237 PMID:28492532 PMID:28717674 PMID:28961260 PMID:29655203 PMID:29961769 PMID:30588498 PMID:30714351 PMID:30895386 PMID:31069529 PMID:31196579 PMID:31737037 PMID:32404902 PMID:32901917 PMID:33240831 PMID:34135856 PMID:34279792 PMID:35571021 PMID:35586607 PMID:36153584 PMID:36362347 PMID:37293674 PMID:21832227 More...
RGD:12879478
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742
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Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:161,374,407...161,400,230
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Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:160,200,471...160,541,830
Ensembl chr 4:160,182,152...160,541,821
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Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
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Dyrk4
dual specificity tyrosine phosphorylation regulated kinase 4
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,401,580...161,443,816
Ensembl chr 4:161,401,580...161,443,791
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Ferry3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:161,541,089...161,553,521
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Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,307,603...161,336,485
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Kcna1
potassium voltage-gated channel subfamily A member 1
ISO ISS IAGP
ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY OMIM:160120 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:2245301 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245 PMID:9714564 PMID:10355668 PMID:10414318 PMID:11013453 PMID:11026449 PMID:11746627 PMID:11773313 PMID:12408867 PMID:15127317 PMID:15351427 PMID:15979945 PMID:16511644 PMID:17114047 PMID:17136396 PMID:17156368 PMID:19307729 PMID:19528245 PMID:19779067 PMID:20301785 PMID:21307345 PMID:21858020 PMID:22609616 PMID:23349320 PMID:24578548 PMID:25659636 PMID:25741868 PMID:26395884 PMID:26467025 PMID:26778656 PMID:27864847 PMID:28216637 PMID:28492532 PMID:28666963 PMID:29056246 PMID:29375859 PMID:29915382 PMID:30055040 PMID:30140249 PMID:32139178 PMID:32316562 PMID:32331416 PMID:32577860 PMID:32705822 PMID:33144682 PMID:34305802 PMID:34418069 PMID:34566847 PMID:34778950 PMID:35897654 PMID:39825153 PMID:22206926 More...
RGD:10047237
NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
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Kcna1Adms
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures
IAGP
RGD
PMID:22206926
RGD:10047237
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:21858020 PMID:28492532
NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
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Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240
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Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349
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Rad51ap1
RAD51 associated protein 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:161,445,512...161,458,680
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Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:161,613,306...161,632,229
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Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar
PMID:28492532
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6465587
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760
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Pmp22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Tongue fasciculations
ClinVar
PMID:25741868
NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940
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Anapc7
anaphase promoting complex subunit 7
ISO
ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome
OMIM ClinVar
PMID:25741868 PMID:34942119
NCBI chr12:39,793,518...39,821,614
Ensembl chr12:39,794,349...39,821,066
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
DNA:missense mutation:exon:p.R28L (c.83G>T) (human) ClinVar Annotator: match by term: FG syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25741868 PMID:19200522
RGD:11576290
NCBI chr X:11,572,328...11,915,831
Ensembl chr X:11,572,636...11,911,948
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Flna
filamin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632775
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome DNA:missense mutation:cds:2881C>T(p.R961W)(human) DNA:missense mutation:cds:p.G958E(human)
CTD ClinVar RGD
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:23757202 PMID:24033266 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26467025 PMID:26813965 PMID:27081531 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28763557 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32410215 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33057194 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:34573309 PMID:35903967 PMID:35982159 PMID:36271811 PMID:36801247 PMID:39825153 PMID:17334363 PMID:20507344 More...
RGD:12910952 , RGD:12910948
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:70,444,705...70,467,708
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Foxo4
forkhead box O4
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,425,218...70,432,120
Ensembl chr X:70,425,563...70,432,120
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Gjb1
gap junction protein, beta 1
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,541,845...70,549,776
Ensembl chr X:70,541,862...70,549,843
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Il2rg
interleukin 2 receptor subunit gamma
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,435,340...70,439,052
Ensembl chr X:70,435,343...70,439,161
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Itgb1bp2
integrin subunit beta 1 binding protein 2
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,612,118...70,617,158
Ensembl chr X:70,612,521...70,617,158
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: FG syndrome 1
OMIM ClinVar
PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20507344 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:27081531 PMID:27286923 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28763557 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33057194 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 PMID:34573309 PMID:35982159 PMID:36271811 PMID:39825153 More...
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:70,444,705...70,467,708
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Nlgn3
neuroligin 3
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,469,251...70,497,380
Ensembl chr X:70,469,457...70,497,379
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Nono
non-POU domain containing, octamer-binding
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,594,116...70,611,976
Ensembl chr X:70,593,888...70,611,979
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Slc7a3
solute carrier family 7 member 3
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,250,089...70,256,610
Ensembl chr X:70,250,099...70,256,059
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Snx12
sorting nexin 12
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,267,013...70,396,948
Ensembl chr X:70,381,837...70,397,164
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Taf1
TATA-box binding protein associated factor 1
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,680,901...70,756,535
Ensembl chr X:70,680,906...70,756,735
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Tex11
testis expressed 11
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:69,973,012...70,236,544
Ensembl chr X:69,972,723...70,236,011
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Zmym3
zinc finger MYM-type containing 3
ISO
ClinVar Annotator: match by term: FG syndrome 1
ClinVar
PMID:28492532
NCBI chr X:70,568,573...70,584,221
Ensembl chr X:70,568,573...70,584,768
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Flna
filamin A
ISO
ClinVar Annotator: match by term: FG syndrome 2
OMIM ClinVar
PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:17632775 PMID:18414213 PMID:22522697 PMID:25167861 PMID:25741868 PMID:26467025 PMID:28133863 PMID:28492532 PMID:29720203 PMID:30089473 PMID:30712057 PMID:30986657 PMID:37175682 More...
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4
OMIM ClinVar
PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23406872 PMID:23871722 PMID:24278995 PMID:24505460 PMID:24781210 PMID:25741868 PMID:26467025 PMID:27652284 PMID:27799067 PMID:28139025 PMID:28492532 PMID:28518168 PMID:28944139 PMID:29878067 PMID:30525188 PMID:30549415 PMID:32461654 PMID:32989192 PMID:33090494 PMID:34697084 PMID:35281599 PMID:35550617 PMID:35568357 PMID:37190086 PMID:37628707 More...
NCBI chr X:11,572,328...11,915,831
Ensembl chr X:11,572,636...11,911,948
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Chml
CHM like Rab escort protein
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:90,141,880...90,152,097
Ensembl chr13:90,131,514...90,151,265
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Exo1
exonuclease 1
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:90,341,947...90,366,861
Ensembl chr13:90,342,018...90,366,861
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Fumarase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:10896297 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16206287 PMID:16237213 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16876016 PMID:16881969 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:19151755 PMID:19183174 PMID:19339519 PMID:19470762 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20231875 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22127509 PMID:22382802 PMID:22473397 PMID:22561013 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22922375 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24441663 PMID:24625422 PMID:24728327 PMID:25004247 PMID:25326637 PMID:25477250 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25913776 PMID:25923021 PMID:25964426 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26574848 PMID:26580448 PMID:26700204 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27377421 PMID:27454940 PMID:27541980 PMID:28196407 PMID:28266706 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28518168 PMID:28592321 PMID:28747166 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29456767 PMID:29641532 PMID:29684080 PMID:29893455 PMID:29909963 PMID:30050099 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31133476 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:31844177 PMID:32008151 PMID:32012241 PMID:32091409 PMID:32371905 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33125697 PMID:33166576 PMID:33167498 PMID:33362715 PMID:33397043 PMID:33439686 PMID:33604570 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34156580 PMID:34308104 PMID:34337822 PMID:34480341 PMID:34604083 PMID:34643235 PMID:34654685 PMID:34750850 PMID:34994643 PMID:35163394 PMID:35441217 PMID:35626031 PMID:35821608 PMID:35988656 PMID:35993574 PMID:36315513 PMID:36773955 PMID:36777509 PMID:37095444 PMID:37255402 PMID:37430226 PMID:37529773 PMID:38539105 PMID:38703036 PMID:38721148 PMID:38873645 More...
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627
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Kmo
kynurenine 3-monooxygenase
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:90,089,340...90,121,108
Ensembl chr13:90,089,463...90,125,151
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Opn3
opsin 3
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:90,121,560...90,152,076
Ensembl chr13:90,121,560...90,152,076
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:90,426,689...90,765,072
Ensembl chr13:90,428,490...90,783,066
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Wdr64
WD repeat domain 64
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:90,156,824...90,280,608
Ensembl chr13:90,156,862...90,279,233
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Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:38,106,067...38,231,286
Ensembl chr X:38,106,067...38,231,331
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Bclaf3
BCLAF1 and THRAP3 family member 3
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:39,065,842...39,137,521
Ensembl chr X:39,072,840...39,137,448
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Bend2
BEN domain containing 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:36,997,518...37,093,363
Ensembl chr X:36,999,265...37,089,782
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:37,566,320...37,796,766
Ensembl chr X:37,566,378...37,796,760
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:39,307,320...39,322,023
Ensembl chr X:39,307,137...39,322,021
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Map3k15
mitogen-activated protein kinase kinase kinase 15
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:38,522,143...38,667,746
Ensembl chr X:38,521,183...38,667,676
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Map7d2
MAP7 domain containing 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:39,181,091...39,296,814
Ensembl chr X:39,181,091...39,296,695
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Nhs
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:36,185,067...36,524,711
Ensembl chr X:36,438,178...36,524,708
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:38,509,158...38,522,986
Ensembl chr X:38,509,084...38,522,536
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO IAGP
ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I | ClinVar Annotator: match by term: PHKA2-related condition DNA:mutations:multiple DNA:missense mutations:multiple
OMIM ClinVar RGD
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17304053 PMID:17576681 PMID:17689125 PMID:18076117 PMID:19763152 PMID:20307669 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22406018 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25315662 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28085675 PMID:28116244 PMID:28283841 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:30945684 PMID:31248825 PMID:31508908 PMID:31832499 PMID:31987065 PMID:32244026 PMID:32387637 PMID:32772503 PMID:33014498 PMID:33763395 PMID:34093448 PMID:34117828 PMID:34277355 PMID:34946936 PMID:35257483 PMID:35854365 PMID:28627441 PMID:8733134 PMID:28283841 More...
RGD:26884355 , RGD:26884354 , RGD:26884353
NCBI chr X:37,979,629...38,102,656
Ensembl chr X:37,979,629...38,102,144
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Ppef1
protein phosphatase with EF-hand domain 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:37,803,204...37,960,378
Ensembl chr X:37,830,055...37,960,375
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Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:36,580,406...36,642,943
Ensembl chr X:36,573,917...36,643,240
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Rps6ka3
ribosomal protein S6 kinase A3
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:39,325,926...39,432,017
Ensembl chr X:39,325,926...39,433,678
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:37,771,135...37,800,894
Ensembl chr X:37,771,135...37,800,894
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Scml1
Scm polycomb group protein like 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:36,526,068...36,543,336
Ensembl chr X:36,526,068...36,544,450
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Scml2
Scm polycomb group protein like 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:37,331,893...37,486,465
Ensembl chr X:37,334,841...37,439,276
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Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:38,686,530...39,031,658
Ensembl chr X:38,686,530...39,031,393
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Abcc12
ATP binding cassette subfamily C member 12
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:36,722,550...36,798,868
Ensembl chr19:36,722,575...36,793,993
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C19h16orf87
similar to human chromosome 16 open reading frame 87
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,800,187...37,827,091
Ensembl chr19:37,799,799...37,827,452
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Dnaja2
DnaJ heat shock protein family (Hsp40) member A2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,671,019...37,689,163
Ensembl chr19:37,670,945...37,690,120
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Gpt2
glutamic--pyruvic transaminase 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,700,023...37,734,551
Ensembl chr19:37,691,901...37,733,917
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Itfg1
integrin alpha FG-GAP repeat containing 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,383,982...37,504,523
Ensembl chr19:37,383,922...37,504,517
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Mylk3
myosin light chain kinase 3
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,858,298...37,916,805
Ensembl chr19:37,865,141...37,915,827
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Neto2
neuropilin and tolloid like 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413
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Orc6
origin recognition complex, subunit 6
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,931,085...37,938,856
Ensembl chr19:37,931,090...37,938,856
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Phkb
phosphorylase kinase regulatory subunit beta
ISO ISS
ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHKB-related condition | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE OMIM:261750 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 PMID:16199547 PMID:17576681 PMID:17689125 PMID:18950708 PMID:21646031 PMID:24082139 PMID:25070466 PMID:25266922 PMID:25640679 PMID:25741868 PMID:26526422 PMID:26913919 PMID:28146470 PMID:28492532 PMID:28870985 PMID:29503979 PMID:29970176 PMID:30919572 PMID:31214250 PMID:31508908 PMID:32505569 PMID:33782433 PMID:33858366 PMID:34093448 PMID:34136918 PMID:34732400 PMID:34989216 PMID:35038814 PMID:37351782 PMID:37510298 PMID:38374194 More...
NCBI chr19:37,179,937...37,383,979
Ensembl chr19:37,186,042...37,383,877
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:37,938,989...37,974,887
Ensembl chr19:37,938,720...37,974,886
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Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 PMID:9536098 PMID:10905889 PMID:12930917 PMID:16199547 PMID:17576681 PMID:17689125 PMID:21646031 PMID:22899091 PMID:24102521 PMID:24389071 PMID:25266922 PMID:25741868 PMID:27207549 PMID:28492532 PMID:29360628 PMID:31508908 PMID:32405178 PMID:32697758 PMID:34989216 PMID:35038814 PMID:35257483 PMID:35549678 PMID:35834487 More...
NCBI chr 1:191,614,738...191,627,615
Ensembl chr 1:191,614,865...191,627,616
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Phka1
phosphorylase kinase regulatory subunit alpha 1
ISO ISS
ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition OMIM:300559 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 PMID:12825073 PMID:15637709 PMID:16199547 PMID:17576681 PMID:18401027 PMID:22238410 PMID:25640679 PMID:25741868 PMID:26242992 PMID:28492532 PMID:28600779 PMID:29667327 PMID:31127727 PMID:32528171 PMID:36034300 More...
NCBI chr X:71,639,701...71,778,465
Ensembl chr X:71,641,246...71,778,320
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar
PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 PMID:28492532 PMID:28627441 PMID:31508908 More...
NCBI chr X:37,979,629...38,102,656
Ensembl chr X:37,979,629...38,102,144
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C18h18orf32
similar to human chromosome 18 open reading frame 32
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25
OMIM ClinVar
PMID:28492532 PMID:35107634
NCBI chr18:70,861,434...70,869,983
Ensembl chr18:70,861,435...70,869,983
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Iars1
isoleucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | ClinVar Annotator: match by term: IARS1-related condition
OMIM ClinVar
PMID:24706940 PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532
NCBI chr17:15,147,357...15,193,716
Ensembl chr17:15,147,357...15,193,652
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Il6
interleukin 6
ISO
RGD
PMID:30684712
RGD:14975126
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Bcas3
BCAS3, microtubule associated cell migration factor
ISO
ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome
OMIM ClinVar
PMID:25741868 PMID:34022130 PMID:39825153
NCBI chr10:70,711,084...71,170,492
Ensembl chr10:70,711,525...71,170,803
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Col4a1
collagen type IV alpha 1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome
CTD OMIM ClinVar
PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:16159887 PMID:16199547 PMID:17030722 PMID:17078022 PMID:17576681 PMID:18077766 PMID:18160688 PMID:19344236 PMID:19477666 PMID:20301386 PMID:20301768 PMID:20385946 PMID:20733150 PMID:20818663 PMID:21527998 PMID:21625620 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25706114 PMID:25741868 PMID:26310487 PMID:26467025 PMID:27794444 PMID:28492532 PMID:28518168 PMID:28750028 PMID:29137252 PMID:29602769 PMID:29770612 PMID:29927466 PMID:30087447 PMID:30315939 PMID:30413629 PMID:30653986 PMID:31008308 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31738409 PMID:31857254 PMID:31903434 PMID:31922066 PMID:32461654 PMID:32732225 PMID:32901917 PMID:33353976 PMID:33527515 PMID:33532864 PMID:34114234 PMID:35711275 PMID:36035189 PMID:36411388 PMID:36413997 PMID:37644014 PMID:37673932 PMID:37830085 More...
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
ClinVar
PMID:25741868
NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Stiff-man syndrome, congenital
ClinVar
PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Glra1
glycine receptor, alpha 1
ISS ISO
ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia | ClinVar Annotator: match by term: STIFF-MAN SYNDROME, CONGENITAL
MouseDO ClinVar
PMID:10817489 PMID:11702206 PMID:11781706 PMID:16078201 PMID:20631190 PMID:24033266 PMID:24108130 PMID:25333069 PMID:25568133 PMID:25741868 PMID:28492532 More...
NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815
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Glrb
glycine receptor, beta
ISO
ClinVar Annotator: match by term: Hyperekplexia
ClinVar
NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614
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Gphn
gephyrin
ISO
ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia
ClinVar
PMID:12684523 PMID:25741868 PMID:28492532
NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674
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Slc6a5
solute carrier family 6 member 5
ISO
ClinVar Annotator: match by term: Hyperekplexia
ClinVar
PMID:16884688 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165
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Glra1
glycine receptor, alpha 1
ISO ISS
ClinVar Annotator: match by term: GLRA1-related condition | ClinVar Annotator: match by term: Hyperekplexia 1 OMIM:149400
OMIM ClinVar MouseDO
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8571969 PMID:8651283 PMID:8733061 PMID:9009272 PMID:9067762 PMID:9536098 PMID:9920650 PMID:10514101 PMID:10817489 PMID:11389164 PMID:11702206 PMID:11781706 PMID:11973623 PMID:12169101 PMID:12746425 PMID:14673895 PMID:15365143 PMID:15771552 PMID:16078201 PMID:16236274 PMID:16832093 PMID:17536053 PMID:17576681 PMID:18043720 PMID:19073849 PMID:19732286 PMID:20631190 PMID:22264702 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25356525 PMID:25568133 PMID:25741868 PMID:26733802 PMID:27843043 PMID:28122427 PMID:28138086 PMID:28348128 PMID:28492532 PMID:28617419 PMID:28879899 PMID:28985719 PMID:30109271 PMID:30182260 PMID:30866851 PMID:32319239 PMID:36434917 More...
NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815
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Gphn
gephyrin
ISO
ClinVar Annotator: match by term: Hyperekplexia 1
ClinVar
PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376
NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674
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Glrb
glycine receptor, beta
ISO ISS
ClinVar Annotator: match by term: Hyperekplexia 2 OMIM:614619
OMIM ClinVar MouseDO
PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 PMID:22532536 PMID:23182654 PMID:23184146 PMID:25640679 PMID:25741868 PMID:28492532 PMID:32911248 PMID:33323420 PMID:35526563 PMID:35841715 More...
NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614
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Slc6a5
solute carrier family 6 member 5
ISO ISS
ClinVar Annotator: match by term: Hyperekplexia 3 | ClinVar Annotator: match by term: SLC6A5-related condition OMIM:614618
OMIM ClinVar MouseDO
PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 PMID:17576681 PMID:18707791 PMID:20301437 PMID:21515498 PMID:22114948 PMID:22700964 PMID:22753417 PMID:23030542 PMID:24030948 PMID:24033266 PMID:24316454 PMID:25640679 PMID:25741868 PMID:27535533 PMID:28492532 PMID:29859229 PMID:30186111 PMID:31370103 PMID:31604777 PMID:32714574 PMID:33310157 PMID:33794243 PMID:35841715 More...
NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165
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Atad1
ATPase family, AAA domain containing 1
ISO
ClinVar Annotator: match by term: Hyperekplexia 4
OMIM ClinVar
PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 PMID:33134516 More...
NCBI chr 1:239,957,329...240,023,792
Ensembl chr 1:239,957,882...240,009,822
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
OMIM ClinVar
PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28487885 PMID:28492532 PMID:29062322 PMID:29162653 PMID:30145808 PMID:31952901 PMID:32366537 PMID:32581362 PMID:32637629 PMID:33102976 PMID:33956416 PMID:35340043 PMID:35346031 PMID:38703036 More...
NCBI chr 1:201,426,446...201,544,444
Ensembl chr 1:201,426,450...201,544,305
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Ctbp1
C-terminal binding protein 1
ISO
ClinVar Annotator: match by term: CTBP1-related condition | ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
OMIM ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29758562 PMID:29878067 PMID:31041561 More...
NCBI chr14:81,679,956...81,707,331
Ensembl chr14:81,679,765...81,707,554
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Camkmt
calmodulin-lysine N-methyltransferase
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:606407
CTD MouseDO
PMID:26247364
NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106
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Ppm1b
protein phosphatase, Mg2+/Mn2+ dependent, 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:15,399,559...15,460,301
Ensembl chr 6:15,399,562...15,460,756
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Prepl
prolyl endopeptidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:15,333,107...15,362,825
Ensembl chr 6:15,333,077...15,363,231
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Slc3a1
solute carrier family 3 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775
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Ccdc174
coiled-coil domain containing 174
ISO
ClinVar Annotator: match by term: CCDC174-related condition | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation
OMIM ClinVar
PMID:25741868 PMID:26358778 PMID:28492532
NCBI chr 4:125,949,203...125,976,179
Ensembl chr 4:125,949,420...125,976,178
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Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies
ClinVar
PMID:25741868
NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies
ClinVar
PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 More...
NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842
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Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
OMIM ClinVar RGD
PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 PMID:25683120 PMID:25741868 PMID:28492532 PMID:29168298 PMID:29610177 PMID:30167850 PMID:30293248 PMID:32698188 PMID:24075186 PMID:23749988 More...
RGD:12914762 , RGD:12911215
NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
ClinVar
PMID:25741868
NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human) ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related disorder
ClinVar OMIM RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28191889 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29430593 PMID:30167850 PMID:30763667 PMID:30771478 PMID:31130284 PMID:31589614 PMID:31607746 PMID:31785789 PMID:31839005 PMID:32712949 PMID:26545877 More...
RGD:11528248
NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842
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Tbck
TBC1 domain containing kinase
ISO
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:27275012 PMID:28492532 PMID:29283439 PMID:30103036 PMID:30542205 PMID:30577886 PMID:30898414 PMID:31618753 PMID:32190976 PMID:32576985 PMID:32860008 PMID:32959227 PMID:34298581 PMID:34816123 PMID:36273129 PMID:36317458 PMID:36703223 More...
NCBI chr 2:223,849,758...224,022,097
Ensembl chr 2:223,849,778...224,022,094
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Cdk8
cyclin-dependent kinase 8
ISO
ClinVar Annotator: match by term: CDK8-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30905399 PMID:33958710 PMID:38193604
NCBI chr12:13,851,024...13,919,017
Ensembl chr12:13,851,024...13,917,992
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Tnpo2
transportin 2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition
OMIM ClinVar
PMID:25741868 PMID:34314705
NCBI chr19:40,004,271...40,024,565
Ensembl chr19:40,004,275...40,024,187
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome
OMIM ClinVar
PMID:9536098 PMID:15034580 PMID:16199547 PMID:17576681 PMID:23861362 PMID:24033266 PMID:24439875 PMID:25741868 PMID:25979592 PMID:26112015 PMID:27532257 PMID:28341588 PMID:28492532 PMID:29016939 PMID:30177324 PMID:30662450 PMID:30821013 PMID:30975432 PMID:31130284 PMID:31575858 PMID:31983221 PMID:32622958 PMID:33500567 PMID:34076677 PMID:34281161 PMID:34546463 PMID:35653365 PMID:38217872 More...
NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Joubert syndrome 10
ClinVar
PMID:25741868
NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331
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Ofd1
Ofd1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Joubert syndrome 10 CTD Direct Evidence: marker/mechanism DNA:duplication:exon:2122-2125dup (human) DNA:deletions:exon:c.2841_2847del, c.2767del (human)
OMIM ClinVar CTD RGD
PMID:12595504 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:27081566 PMID:28125082 PMID:28492532 PMID:30401917 PMID:31373179 PMID:35112477 PMID:35728977 PMID:36704348 PMID:16783569 PMID:19800048 More...
RGD:11535965 , RGD:11535963
NCBI chr X:31,647,000...31,687,768
Ensembl chr X:31,647,000...31,687,884
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Ahi1
Abelson helper integration site 1
ISO ISS
DNA:missense mutation, nonsense mutations:exon:multiple ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: Joubert syndrome 3 OMIM:608629 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human) DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human) DNA:nonsense mutation:cds:c.910dup (human) DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar MouseDO CTD OMIM RGD
PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21228398 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:22995991 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:25741869 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28391287 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:28976722 PMID:29146704 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31054281 PMID:31069529 PMID:31130284 PMID:31456290 PMID:31589614 PMID:31624253 PMID:31938409 PMID:31964843 PMID:32165824 PMID:32483926 PMID:32865313 PMID:33879512 PMID:34191236 PMID:34627237 PMID:34906470 PMID:34906502 PMID:35087072 PMID:36460718 PMID:36648511 PMID:36819107 PMID:37217489 PMID:37734845 PMID:37798099 PMID:38465142 PMID:16155189 PMID:18268248 PMID:21623382 PMID:15322546 PMID:26541515 PMID:16453322 PMID:15467982 PMID:18054307 More...
RGD:1598905 , RGD:11537395 , RGD:11537390 , RGD:11537388 , RGD:11343130 , RGD:11537387 , RGD:1304518 , RGD:11537346
NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 3
ClinVar
PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 PMID:25741868 PMID:28492532 PMID:31692161 PMID:34234304 PMID:34983064 More...
NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 3
ClinVar
PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350
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Cep290
centrosomal protein 290
ISO ISS
ClinVar Annotator: match by term: Joubert syndrome 5 OMIM:610188 CTD Direct Evidence: marker/mechanism DNA:SNPs:multiple (human) DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:deletions, insertion: :multiple
OMIM ClinVar MouseDO CTD RGD
PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19823873 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21228398 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24223178 PMID:24265693 PMID:24767827 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25937446 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26673778 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27848944 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28619647 PMID:28829391 PMID:28844315 PMID:28912962 PMID:28914264 PMID:28966547 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29518907 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:30193310 PMID:30478281 PMID:30559420 PMID:30576320 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30902645 PMID:31054281 PMID:31069529 PMID:31087526 PMID:31091803 PMID:31308072 PMID:31345219 PMID:31370859 PMID:31411728 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31623504 PMID:31624253 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31879347 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32483926 PMID:32531858 PMID:32579692 PMID:32581362 PMID:32619255 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33749171 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196201 PMID:34196655 PMID:34327195 PMID:34426522 PMID:34582790 PMID:34691137 PMID:34716235 PMID:34758253 PMID:34795310 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35627109 PMID:35764379 PMID:36369640 PMID:36460718 PMID:36537646 PMID:36729443 PMID:36819107 PMID:36909829 PMID:36990420 PMID:37510321 PMID:38709228 PMID:27434533 PMID:17564967 PMID:17617513 PMID:17409309 More...
RGD:329902080 , RGD:329853747 , RGD:11537352 , RGD:7246903
NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955
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Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 5
ClinVar
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:32483926 More...
NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044
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Slc12a2
solute carrier family 12 member 2
ISO
ClinVar Annotator: match by term: Kilquist syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 PMID:32754646 More...
NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470
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Pip5k1c
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17701898 PMID:25741868 PMID:28492532 PMID:37451268 PMID:38491417
NCBI chr 7:9,048,135...9,076,751
Ensembl chr 7:9,048,146...9,076,716
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Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
ClinVar Annotator: match by term: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32197074
NCBI chr12:15,824,431...15,858,266
Ensembl chr12:15,825,124...15,858,281
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C5h1orf167
similar to human chromosome 1 open reading frame 167
ISO
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
ClinVar
PMID:25741868
NCBI chr 5:163,770,495...163,788,791
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9536098 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10679944 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11395038 PMID:11418485 PMID:11590551 PMID:11710708 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11916316 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:15048559 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16199547 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17457696 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17576681 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18854913 PMID:19031955 PMID:19648163 PMID:19810817 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20472929 PMID:20490923 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21131308 PMID:21270786 PMID:21387541 PMID:21480888 PMID:21534867 PMID:21644011 PMID:21778025 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22887477 PMID:22947400 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23526309 PMID:23648444 PMID:24033266 PMID:24241962 PMID:24726568 PMID:24797679 PMID:24908438 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25079578 PMID:25110820 PMID:25162892 PMID:25177243 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25758715 PMID:25778468 PMID:25856670 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27104192 PMID:27118298 PMID:27217051 PMID:27399166 PMID:27527345 PMID:27743313 PMID:27768236 PMID:27781293 PMID:27981572 PMID:27992285 PMID:28241805 PMID:28468868 PMID:28492532 PMID:28514598 PMID:28696419 PMID:29246599 PMID:29284203 PMID:29391032 PMID:29589488 PMID:29911750 PMID:30684021 PMID:31068897 PMID:31069529 PMID:31462756 PMID:31589614 PMID:31870219 PMID:32161077 PMID:32230794 PMID:32451826 PMID:32612964 PMID:32695297 PMID:32939339 PMID:33089527 PMID:33125268 PMID:34015165 PMID:34214447 PMID:34347262 PMID:34845156 PMID:35008593 PMID:35322348 PMID:35499206 PMID:35578252 PMID:36901693 PMID:37239340 PMID:37489029 PMID:37972026 PMID:39825153 More...
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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Ano5
anoctamin 5
ISO
ClinVar Annotator: match by term: Miyoshi myopathy
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:25891276 PMID:26467025 PMID:28492532 PMID:32367299 PMID:37688281 More...
NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501
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Dysf
dysferlin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
CTD ClinVar
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 PMID:17868276 PMID:17897828 PMID:18832576 PMID:18853459 PMID:19493611 PMID:21522182 PMID:22046204 PMID:22297152 PMID:24033266 PMID:24109560 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25214167 PMID:25525159 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27365461 PMID:27666772 PMID:28492532 PMID:30107846 PMID:30564623 PMID:32504279 PMID:32528171 PMID:33927379 PMID:34426522 PMID:34906502 PMID:35273475 PMID:36672942 More...
NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273
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Dysf
dysferlin
ISO
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1
OMIM ClinVar
PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 PMID:9731526 PMID:10196377 PMID:10766988 PMID:10825360 PMID:11053681 PMID:11198284 PMID:11257469 PMID:11468312 PMID:11532985 PMID:12410383 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15515206 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16199547 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17512949 PMID:17562833 PMID:17576681 PMID:17698709 PMID:17825554 PMID:17828519 PMID:17897828 PMID:17932988 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18396043 PMID:18808059 PMID:18832576 PMID:18853459 PMID:19015158 PMID:19084402 PMID:19154541 PMID:19309282 PMID:19493611 PMID:19528035 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:21173544 PMID:21392994 PMID:21484829 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22057634 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22318734 PMID:22616201 PMID:22849992 PMID:22910291 PMID:22995991 PMID:23185377 PMID:23243261 PMID:23254335 PMID:23406536 PMID:23488891 PMID:23519732 PMID:23530687 PMID:23641709 PMID:23757202 PMID:24033266 PMID:24109560 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25046369 PMID:25133958 PMID:25135358 PMID:25143362 PMID:25312915 PMID:25326637 PMID:25373139 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25591678 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25900324 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26077327 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26444858 PMID:26467025 PMID:26579332 PMID:26671124 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27104310 PMID:27195159 PMID:27229680 PMID:27290639 PMID:27347015 PMID:27363342 PMID:27365461 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27821570 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28104817 PMID:28403181 PMID:28492532 PMID:28600779 PMID:28904466 PMID:29138090 PMID:29382405 PMID:29797799 PMID:29970176 PMID:29997562 PMID:30028523 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:30919934 PMID:31019989 PMID:31066050 PMID:31268554 PMID:31407473 PMID:31475473 PMID:31589614 PMID:31862442 PMID:31931849 PMID:32140910 PMID:32400077 PMID:32504279 PMID:32528171 PMID:32576226 PMID:32751317 PMID:32860008 PMID:32906206 PMID:32934002 PMID:33144682 PMID:33215690 PMID:33250842 PMID:33348118 PMID:33610434 PMID:33613410 PMID:33715265 PMID:33751525 PMID:33927379 PMID:34281941 PMID:34440373 PMID:34559919 PMID:34624274 PMID:35028538 PMID:35047756 PMID:35135626 PMID:35273475 PMID:36319958 PMID:36580222 PMID:36672942 PMID:36983702 PMID:37366078 PMID:37688281 PMID:37926714 PMID:39825153 More...
NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273
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Ano5
anoctamin 5
ISO
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 CTD Direct Evidence: marker/mechanism DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)
OMIM ClinVar CTD RGD
PMID:9673985 PMID:17008331 PMID:17132147 PMID:18414213 PMID:20096397 PMID:20692837 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23193613 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26809617 PMID:26810512 PMID:26838040 PMID:26886200 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28489263 PMID:28492532 PMID:28888072 PMID:29382405 PMID:29431110 PMID:30564623 PMID:30919934 PMID:31341644 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31561939 PMID:31589614 PMID:31931849 PMID:32112655 PMID:32367299 PMID:32403337 PMID:32528171 PMID:32646536 PMID:32925086 PMID:33496727 PMID:33963534 PMID:34008892 PMID:34106991 PMID:36157496 PMID:36913258 PMID:20096397 More...
RGD:11570558
NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501
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Lama4
laminin subunit alpha 4
ISO
ClinVar Annotator: match by term: Miyoshi myopathy 3
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
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Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3
ClinVar
PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 PMID:21310275 PMID:21533915 PMID:23283745 PMID:23610579 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25741868 PMID:27532257 PMID:28193612 PMID:28492532 PMID:29255176 PMID:31513939 PMID:31737537 PMID:32492895 PMID:32686758 PMID:33407484 PMID:33673806 PMID:34137518 More...
NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome
ClinVar
PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 PMID:26394714 PMID:27038415 PMID:28492532 PMID:30293990 PMID:30609409 More...
NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379
G
Bcl2
BCL2, apoptosis regulator
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
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Kdsr
3-ketodihydrosphingosine reductase
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,374,101...23,408,779
Ensembl chr13:23,376,779...23,408,897
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Phlpp1
PH domain and leucine rich repeat protein phosphatase 1
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,823,132...23,045,619
Ensembl chr13:22,823,132...23,045,619
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
OMIM ClinVar
PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 PMID:21493957 PMID:22271396 PMID:24033266 PMID:24253414 PMID:24852103 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25920937 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:27290639 PMID:27891564 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:30293990 PMID:30609409 PMID:30660939 PMID:30665423 PMID:30709774 PMID:31428121 PMID:31440721 PMID:31628766 PMID:31827275 PMID:32064623 PMID:32220244 PMID:32860008 PMID:33193741 PMID:33502061 PMID:33619735 PMID:33763700 PMID:34051595 PMID:34426522 PMID:34782754 PMID:34906502 PMID:34930662 PMID:34958143 PMID:35179230 PMID:35322241 PMID:35468813 PMID:35982159 PMID:36322149 PMID:38256219 PMID:38456468 PMID:38959600 More...
NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379
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Relch
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,321,495...22,417,371
Ensembl chr13:22,321,542...22,417,371
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Serpinb10
serpin family B member 10
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:24,067,971...24,085,814
Ensembl chr13:24,068,040...24,085,802
G
Serpinb11
serpin family B member 11
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,819,416...23,859,240
Ensembl chr13:23,819,429...23,859,240
G
Serpinb12
serpin family B member 12
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,567,023...23,598,329
Ensembl chr13:23,567,023...23,598,329
G
Serpinb13
serpin family B member 13
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,633,220...23,665,100
Ensembl chr13:23,633,220...23,664,994
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Serpinb2
serpin family B member 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:24,051,933...24,065,032
Ensembl chr13:24,056,021...24,065,031
G
Serpinb3
serpin family B member 3
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,788,758...23,795,298
Ensembl chr13:23,788,758...23,795,298
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Serpinb3a
serpin family B member 3A
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,755,690...23,766,188
Ensembl chr13:23,756,118...23,766,341
G
Serpinb5
serpin family B member 5
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,500,203...23,520,401
Ensembl chr13:23,500,198...23,520,400
G
Serpinb7
serpin family B member 7
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,884,466...23,956,834
Ensembl chr13:23,910,306...23,956,834
G
Serpinb8
serpin family B member 8
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:24,141,557...24,164,894
Ensembl chr13:24,129,855...24,166,076
G
Tnfrsf11a
TNF receptor superfamily member 11A
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,442,930...22,501,257
Ensembl chr13:22,442,665...22,501,257
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Vps4b
vacuolar protein sorting 4 homolog B
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,421,758...23,446,848
Ensembl chr13:23,421,758...23,446,973
G
Zcchc2
zinc finger CCHC-type containing 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,621,275...22,708,232
Ensembl chr13:22,634,171...22,708,464
G
Ace2
angiotensin converting enzyme 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Ap1s2
adaptor related protein complex 1 subunit sigma 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:34,204,601...34,230,819
Ensembl chr X:34,204,603...34,228,529
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Asb11
ankyrin repeat and SOCS box containing 11
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,646,389...33,669,790
Ensembl chr X:33,624,394...33,669,934
G
Asb9
ankyrin repeat and SOCS box-containing 9
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,588,484...33,633,285
Ensembl chr X:33,588,484...33,624,397
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Bmx
BMX non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,859,128...33,921,876
Ensembl chr X:33,859,129...33,921,874
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Ca5b
carbonic anhydrase 5B
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:34,106,553...34,166,651
Ensembl chr X:34,067,403...34,166,653
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Cltrn
collectrin, amino acid transport regulator
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,993,825...34,027,124
Ensembl chr X:33,993,825...34,027,181
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Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,035,387...33,051,993
Ensembl chr X:33,035,387...33,051,808
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Mospd2
motile sperm domain containing 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,052,063...33,105,550
Ensembl chr X:33,052,004...33,107,635
G
Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
OMIM ClinVar
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:31957018 PMID:32176464 PMID:32220244 PMID:32256299 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 PMID:37489290 More...
NCBI chr X:33,672,832...33,687,747
Ensembl chr X:33,674,923...33,687,636
G
Pir
pirin
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,740,428...33,851,049
Ensembl chr X:33,740,429...33,851,049
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Vegfd
vascular endothelial growth factor D
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:33,704,582...33,740,305
Ensembl chr X:33,706,055...33,740,167
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:34,179,279...34,201,989
Ensembl chr X:34,179,311...34,201,986
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder
OMIM ClinVar
PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28327575 PMID:28492532 PMID:28728837 PMID:29868109 PMID:30049826 PMID:30813157 PMID:30976099 PMID:31130284 PMID:32220244 PMID:32404165 PMID:32581362 PMID:32725661 PMID:33620284 PMID:34046058 PMID:36177944 More...
NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268
G
Pigq
phosphatidylinositol glycan anchor biosynthesis, class Q
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition
OMIM ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 PMID:32746448 More...
NCBI chr10:15,447,080...15,463,088
Ensembl chr10:15,447,081...15,463,088
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Muscle cramps
ClinVar
PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:28492532 PMID:34106991 More...
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835
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Bcan
brevican
ISO
Episodic falling, BCAN-related
OMIA
PMID:3680644 PMID:3716135 PMID:6868317 PMID:15971896 PMID:21821125 PMID:22253609 PMID:25441627 PMID:30650096 PMID:36086931 PMID:38003185 PMID:39119350 More...
NCBI chr 2:175,752,333...175,765,766
Ensembl chr 2:175,752,336...175,765,314
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2862618
NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594
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Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10407778
NCBI chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982
G
Acot1
acyl-CoA thioesterase 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
NCBI chr 6:109,367,274...109,375,268
Ensembl chr 6:109,367,268...109,380,749
G
Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868
NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:150,512,037...150,583,144
G
Aimp1
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr 2:223,825,930...223,849,477
Ensembl chr 2:223,825,931...223,849,994
G
Alg13
ALG13, UDP-N-acetylglucosaminyltransferase subunit
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26482601 PMID:28492532 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 More...
NCBI chr X:112,703,015...112,764,924
Ensembl chr X:112,702,796...112,739,356
G
Ankle2
ankyrin repeat and LEM domain containing 2
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868
NCBI chr12:52,077,863...52,110,775
Ensembl chr12:52,077,480...52,108,708
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Asxl3
ASXL transcriptional regulator 3
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868 PMID:32581362
NCBI chr18:13,868,223...14,040,867
Ensembl chr18:13,868,674...14,037,373
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:25741868
NCBI chr X:156,367,582...156,464,085
Ensembl chr X:156,367,852...156,438,153
G
Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:10995512 PMID:21505078 PMID:22129561 PMID:25741868 PMID:28492532
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:74,916,548...75,062,880
G
Chd1
chromodomain helicase DNA binding protein 1
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr 1:65,334,905...65,402,270
Ensembl chr 1:65,335,218...65,401,280
G
Chst14
carbohydrate sulfotransferase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20842734
NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777
G
Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:8364588 PMID:25741868
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
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Col6a3
collagen type VI alpha 3 chain
ISO
Associated with Down syndrome; DNA:SNP:CDS:rs2270669 (human)
RGD
PMID:23626599
RGD:401851041
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
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Cpt2
carnitine palmitoyltransferase 2
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34063237 More...
NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:127,893,207...127,910,818
G
Des
desmin
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 More...
NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347
G
Dhcr7
7-dehydrocholesterol reductase
ISO
RGD
PMID:11230174
RGD:734884
NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:208,444,434...208,461,382
G
Dmap1
DNA methyltransferase 1-associated protein 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
NCBI chr 5:136,380,211...136,388,229
Ensembl chr 5:136,380,216...136,388,219
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:25741868
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970
G
Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043
NCBI chr 1:201,426,446...201,544,444
Ensembl chr 1:201,426,450...201,544,305
G
Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:22544365 PMID:23564332 PMID:23883322 PMID:23975261 PMID:24524299 PMID:24970098 PMID:25149867 PMID:25326635 PMID:25533962 PMID:25741868 PMID:27146152 PMID:27777260 PMID:28492532 PMID:28687512 PMID:29186371 PMID:29444210 PMID:29656927 PMID:30986545 PMID:34582790 PMID:39825153 More...
NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:64,369,495...64,374,902
G
Ferry3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25558065 PMID:27311568
NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075
G
Fkbp14
FKBP prolyl isomerase 14
ISO
ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 PMID:39825153 More...
NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:85,037,145...85,051,808
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Flna
filamin A
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
G
Gan
gigaxonin
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
NCBI chr19:62,116,600...62,173,879
Ensembl chr19:62,116,600...62,163,083
G
Glrb
glycine receptor, beta
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614
G
Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:9596582 PMID:22366783 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27759915 PMID:28087732 PMID:28492532 PMID:29694806 PMID:30194818 PMID:30504930 PMID:31735425 PMID:32134617 PMID:32901917 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 PMID:39825153 More...
NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
G
Hace1
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362
NCBI chr20:50,618,004...50,733,460
Ensembl chr20:50,618,004...50,733,466
G
Heatr4
HEAT repeat containing 4
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
NCBI chr 6:109,305,459...109,338,331
Ensembl chr 6:109,304,557...109,342,693
G
Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:25741868
NCBI chr 1:116,009,681...116,243,888
Ensembl chr 1:116,040,736...116,243,884
G
Hnrnpk
heterogeneous nuclear ribonucleoprotein K
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868
NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,268,385...6,280,565
G
Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 PMID:31898846 More...
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22544363 PMID:22544367
NCBI chr10:89,737,637...89,868,620
Ensembl chr10:89,737,637...89,868,620
G
Kcnb1
potassium voltage-gated channel subfamily B member 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514
NCBI chr 3:176,239,285...176,332,408
Ensembl chr 3:176,242,589...176,332,408
G
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:28492532
NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117
G
Lama2
laminin subunit alpha 2
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056
G
Letm1
leucine zipper and EF-hand containing transmembrane protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14706454
NCBI chr14:81,167,268...81,206,776
Ensembl chr14:81,162,309...81,209,459
G
Lipt1
lipoyltransferase 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868 PMID:27247813 PMID:28492532
NCBI chr 9:47,603,972...47,609,365
Ensembl chr 9:47,594,058...47,614,669
G
Mbd5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr 3:53,742,458...54,147,970
Ensembl chr 3:54,075,084...54,139,389
G
Mecp2
methyl CpG binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19559301
NCBI chr X:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
G
Mitd1
microtubule interacting and trafficking domain containing 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868 PMID:27247813 PMID:28492532
NCBI chr 9:47,609,743...47,621,033
Ensembl chr 9:47,609,744...47,621,033
G
Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892
NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886
G
Mmgt1
membrane magnesium transporter 1
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr X:139,445,834...139,458,169
Ensembl chr X:139,445,834...139,458,169
G
Mtm1
myotubularin 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868
NCBI chr 6:6,234,917...6,252,874
Ensembl chr 6:6,234,922...6,252,961
G
Pde10a
phosphodiesterase 10A
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:27058446 PMID:32581362
NCBI chr 1:54,313,343...54,765,668
Ensembl chr 1:54,317,732...54,764,051
G
Pde2a
phosphodiesterase 2A
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868 PMID:32467598
NCBI chr 1:165,235,623...165,327,466
Ensembl chr 1:165,235,623...165,327,466
G
Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215
G
Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:25741868
NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110
G
Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863
G
Pura
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 PMID:34008892 More...
NCBI chr18:28,159,103...28,179,539
Ensembl chr18:28,125,126...28,211,111
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:32004447
NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:78,701,832...78,987,486
G
Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138848
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
G
Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:16199547 PMID:23919265 PMID:25741868 PMID:25960145 PMID:28492532 PMID:28818389 PMID:30611313 More...
NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305
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Slc16a2
solute carrier family 16 member 2
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr X:72,791,096...72,914,299
Ensembl chr X:72,781,876...72,914,498
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Unilateral Hypotonia
ClinVar
PMID:25741868 PMID:33299146
NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448
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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 PMID:23673306 PMID:24033266 PMID:24803665 PMID:25741868 PMID:25862627 PMID:26918529 PMID:28492532 PMID:29493581 PMID:31292302 PMID:32333414 PMID:34008892 PMID:34163525 More...
NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350
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Sox5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868
NCBI chr 4:178,512,272...179,467,686
Ensembl chr 4:178,512,272...178,938,495
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Sp9
Sp9 transcription factor
ISO
ClinVar Annotator: match by term: Muscular hypotonia
ClinVar
PMID:25741868 PMID:38288683
NCBI chr 3:78,554,345...78,556,875
Ensembl chr 3:78,554,206...78,558,072
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Srd5a3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868 PMID:28492532 PMID:32483926 PMID:35170016 PMID:35460704
NCBI chr14:32,400,603...32,414,987
Ensembl chr14:32,400,603...32,415,117
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058
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Tamm41
TAM41 mitochondrial translocator assembly and maintenance homolog
ISO
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar
PMID:25741868 PMID:35321494
NCBI chr 4:149,743,216...149,776,388
Ensembl chr 4:149,699,693...149,776,369
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Tbr1
T-box brain transcription factor 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868
NCBI chr 3:66,758,805...66,769,626
Ensembl chr 3:66,759,803...66,769,626
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Tcf20
transcription factor 20
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
NCBI chr 7:115,833,523...116,009,790
Ensembl chr 7:115,834,416...115,931,915
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868
Ensembl chr20:4,031,082...4,090,128
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Tspan1
tetraspanin 1
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
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Ttn
titin
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28750076 PMID:29961767 More...
NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
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Usp2
ubiquitin specific peptidase 2
ISO
ClinVar Annotator: match by term: Facial hypotonia
ClinVar
PMID:25741868
NCBI chr 8:53,308,264...53,336,800
Ensembl chr 8:53,308,303...53,336,794
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Usp7
ubiquitin specific peptidase 7
ISO
ClinVar Annotator: match by term: Hypotonia
ClinVar
PMID:25741868
NCBI chr10:7,335,508...7,432,018
Ensembl chr10:7,367,604...7,432,013
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Vars1
valyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Generalized hypotonia
ClinVar
PMID:25741868 PMID:30275004
NCBI chr20:3,810,427...3,825,193
Ensembl chr20:3,810,429...3,824,951
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: poor muscle tone
ClinVar
PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 PMID:36243722 PMID:37645600 More...
NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15570195
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:115,761,696...115,771,837
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Gch1
GTP cyclohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17368676
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10675796
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310
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Nts
neurotensin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8036282
NCBI chr 7:39,451,484...39,460,888
Ensembl chr 7:39,451,073...39,460,961
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20085714
NCBI chr 2:28,009,841...28,244,050
Ensembl chr 2:28,011,359...28,244,327
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Adra2a
adrenoceptor alpha 2A
IEP
RGD
PMID:21871540
RGD:6480106
NCBI chr 1:263,066,780...263,069,580
Ensembl chr 1:263,065,278...263,069,871
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17220914
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252
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Ddhd1
DDHD domain containing 1
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
NCBI chr15:21,304,053...21,370,608
Ensembl chr15:21,303,826...21,370,608
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Dmxl2
Dmx-like 2
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:63,637,314...63,803,911
Ensembl chr 8:63,637,314...63,781,116
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:25741868
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609
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Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:16547514 PMID:25741868 PMID:33230297
NCBI chr 4:159,237,562...159,239,223
G
Plp1
proteolipid protein 1
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
NCBI chr X:104,933,921...104,993,317
Ensembl chr X:104,975,780...104,993,314
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Pmm2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:9792409 PMID:10386614 PMID:10527672 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11589167 PMID:11916319 PMID:12244009 PMID:15520415 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr10:7,468,371...7,489,574
Ensembl chr10:7,468,372...7,489,554
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Pmp22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:25741868
NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940
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Rab9b
RAB9B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
NCBI chr X:105,013,178...105,023,872
Ensembl chr X:105,013,104...105,034,319
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Reep1
receptor accessory protein 1
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:25025039 PMID:25741868
NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602
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Spast
spastin
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 PMID:20718791 PMID:20932283 PMID:22960362 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29761117 PMID:29934652 More...
NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446
G
Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058
G
Washc5
WASH complex subunit 5
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532
NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532
G
Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: Spasticity
ClinVar
PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 PMID:36243722 PMID:37645600 More...
NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465
G
Acox1
acyl-CoA oxidase 1
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr10:101,905,083...101,930,136
Ensembl chr10:101,905,083...101,930,136
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Ampd1
adenosine monophosphate deaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10996775
NCBI chr 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443
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Camkmt
calmodulin-lysine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106
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Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17157502 PMID:17318636 PMID:17702496 PMID:20301490 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:27259757 PMID:28492532 PMID:28881388 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31066050 PMID:31263448 PMID:31517061 PMID:31788660 More...
NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:127,861,589...127,911,638
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Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:28492532
NCBI chr 6:78,090,843...78,094,888
Ensembl chr 6:78,090,843...78,094,888
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Chat
choline O-acetyltransferase
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,663,665...7,723,416
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Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745
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Col6a2
collagen type VI alpha 2 chain
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 More...
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
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Col6a3
collagen type VI alpha 3 chain
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:28492532
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8622042
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8622042
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscle weakness
CTD ClinVar
PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:26930420 PMID:28492532 PMID:30074247 PMID:34106991 More...
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835
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Dnajb6
DnaJ heat shock protein family (Hsp40) member B6
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:6,128,070...6,232,005
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Progressive muscle weakness
ClinVar
PMID:25741868 PMID:28492532 PMID:32656949
NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116
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Dysf
dysferlin
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273
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Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr X:139,592,794...139,652,290
Ensembl chr X:139,592,604...139,652,282
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Fkrp
fukutin related protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscle weakness
CTD ClinVar
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:29571322 PMID:30232282 PMID:30564623 PMID:30919934 PMID:31268217 PMID:32342672 PMID:32914449 PMID:34008892 PMID:34653404 More...
NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257
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Flnc
filamin C
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240
G
Gch1
GTP cyclohydrolase 1
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412
G
Gyg1
glycogenin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20357282
NCBI chr 2:104,540,927...104,583,038
Ensembl chr 2:104,540,533...104,582,818
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Progressive muscle weakness
ClinVar
PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 More...
NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:209,934,969...209,958,766
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Myo9b
myosin IXb
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr16:17,979,374...18,064,100
Ensembl chr16:17,979,439...18,064,332
G
Myot
myotilin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscle weakness
CTD ClinVar
PMID:15111675
NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,956,191...36,976,265
G
Neb
nebulin
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:57,022,822...57,220,709
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27890673 PMID:28492532 PMID:31521625 PMID:32420686 PMID:37196654 More...
NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955
G
Pmp22
peripheral myelin protein 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12427913
NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940
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Rif1
replication timing regulatory factor 1
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:56,963,854...57,017,106
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Scn4a
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868
NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324
G
Slc12a3
solute carrier family 12 member 3
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 PMID:17654016 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:25741868 PMID:26467025 PMID:26921350 PMID:28492532 PMID:29398133 PMID:31672324 PMID:35591852 PMID:35628451 More...
NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,636,596...10,675,050
G
Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742
G
Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:23143600 PMID:28492532
NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29434186 PMID:33269387
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
G
Syt2
synaptotagmin 2
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
NCBI chr13:48,639,634...48,749,814
Ensembl chr13:48,639,934...48,749,812
G
Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666374
NCBI chr10:107,215,626...107,372,398
Ensembl chr10:107,215,633...107,372,402
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
Diaphragm Weakness
RGD
PMID:21097524
RGD:5130943
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
G
Ttn
titin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17444505
NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
G
Vcp
valosin-containing protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive muscle weakness
CTD ClinVar
PMID:25741868 PMID:25884947
NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387
G
Washc5
WASH complex subunit 5
ISO
ClinVar Annotator: match by term: Muscle weakness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532
G
Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18467435
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
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Ampd1
adenosine monophosphate deaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10996775
NCBI chr 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443
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Apaf1
apoptotic peptidase activating factor 1
IEP
mRNA:decreased expression:skeletal muscle tissue
RGD
PMID:17029665
RGD:2325745
NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:27,381,855...27,466,772
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
RGD
PMID:23792145
RGD:10059412
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796
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Cacna1s
calcium voltage-gated channel subunit alpha1 S
ISO
ClinVar Annotator: match by term: Muscular atrophy
ClinVar
PMID:25741868 PMID:31227654
NCBI chr13:50,045,668...50,115,903
Ensembl chr13:50,045,668...50,115,903
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Cast
calpastatin
IEP
protein:increased expression:gastrocnemius (rat)
RGD
PMID:28800153
RGD:405100967
NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180
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Ccng1
cyclin G1
IEP
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:14638460
RGD:151361116
NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,677,885...25,683,766
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Cfl1
cofilin 1
IEP
protein:decreased phosphorylation:gastrocnemius (rat)
RGD
PMID:24711688
RGD:11570530
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:212,226,121...212,231,353
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
treatment
IMP
RGD
PMID:18827022
RGD:7495773
NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19032942
NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:14,103,457...14,134,782
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Col1a2
collagen type I alpha 2 chain
IEP
RGD
PMID:17916675
RGD:7257536
NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995
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Crhr2
corticotropin releasing hormone receptor 2
IDA
RGD
PMID:21235761
RGD:5130936
NCBI chr 4:85,553,163...85,596,203
Ensembl chr 4:85,554,268...85,596,318
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18467435
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Ctsl
cathepsin L
IEP
mRNA:increased expression:soleus (rat)
RGD
PMID:16928772
RGD:2315576
NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113
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Dag1
dystroglycan 1
IEP
protein:decreased expression:gastrocnemius
RGD
PMID:12107060
RGD:625642
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199
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Dmd
dystrophin
IEP
RGD
PMID:12107060
RGD:625642
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835
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Endog
endonuclease G
IEP
RGD
PMID:15650125
RGD:9685359
NCBI chr 3:33,846,935...33,849,531
Ensembl chr 3:33,846,885...33,849,573
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Fabp4
fatty acid binding protein 4
IEP
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:14638460
RGD:151361116
NCBI chr 2:93,488,251...93,492,961
Ensembl chr 2:93,488,271...93,492,972
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Fbxo32
F-box protein 32
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21139329 PMID:11679633
RGD:633893
NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:91,620,925...91,654,491
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Fst
follistatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33034787
NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:47,856,345...47,863,491
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8937196
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859
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Ghr
growth hormone receptor
IEP
mRNA:increased expression:soleus associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:12865352 PMID:14638460
RGD:2307376 , RGD:151361116
NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:54,270,206...54,532,331
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18467435
NCBI chr11:76,004,502...76,154,665
Ensembl chr11:76,009,507...76,153,249
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Hsf1
heat shock transcription factor 1
treatment
IDA
RGD
PMID:21983076
RGD:10402941
NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:110,076,710...110,103,665
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Hsp90ab1
heat shock protein 90 alpha family class B member 1
IEP
mRNA:decreased expression:soleus muscle (rat)
RGD
PMID:21639837
RGD:5686383
NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18467435
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
IMP
RGD
PMID:18827022
RGD:7495773
NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911
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Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16723379
NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
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Kif16b
kinesin family member 16B
ISO
ClinVar Annotator: match by term: Muscular atrophy
ClinVar
PMID:25741868
NCBI chr 3:150,428,233...150,707,755
Ensembl chr 3:150,366,838...150,707,770
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Kras
KRAS proto-oncogene, GTPase
IEP
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:14638460
RGD:151361116
NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
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Mstn
myostatin
IEP
associated with Addison's Disease mRNA, protein:altered expression:skeletal muscle
RGD
PMID:15738643 PMID:15758361
RGD:2303596 , RGD:2303594
NCBI chr 9:55,944,513...55,950,913
Ensembl chr 9:55,944,513...55,950,913
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Mt1a
metallothionein 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24163136
NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200 Ensembl chr X:79,695,809...79,696,200 Ensembl chr19:79,695,809...79,696,200
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Mtmr4
myotubularin related protein 4
IEP
protein:decreased expression:gastrocnemius
RGD
PMID:19125695
RGD:7242174
NCBI chr10:72,890,665...72,913,598
Ensembl chr10:72,889,827...72,913,598
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Mtor
mechanistic target of rapamycin kinase
treatment
IMP
RGD
PMID:19260063
RGD:10041027
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435
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Nedd4
NEDD4 E3 ubiquitin protein ligase
IEP
protein:increased expression:gastrocnemius
RGD
PMID:19125695
RGD:7242174
NCBI chr 8:82,264,751...82,349,642
Ensembl chr 8:82,264,649...82,349,633
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP
protein:altered expression:nucleus
RGD
PMID:17622304
RGD:4892297
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025
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Relb
RELB proto-oncogene, NF-kB subunit
IDA
protein:decreased localization:soleus, nucleus
RGD
PMID:11919155
RGD:7777164
NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:88,385,717...88,413,420
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Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:decreased expression, decreased phosphorylation:soleus
RGD
PMID:17885021
RGD:1642984
NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,815,614...71,865,238
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Serpine1
serpin family E member 1
IEP
mRNA:increased expression:muscle
RGD
PMID:19574431
RGD:4144861
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
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Sgca
sarcoglycan, alpha
IEP
protein:decreased expression:gastrocnemius
RGD
PMID:12107060
RGD:625642
NCBI chr10:80,397,158...80,416,165
Ensembl chr10:80,405,566...80,419,616
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24163136 PMID:29374221
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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Tfrc
transferrin receptor
IEP
mRNA:decreased expression:gastrocnemius
RGD
PMID:18395385
RGD:2292027
NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318
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Tgif1
TGFB-induced factor homeobox 1
IEP
associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:14718385
RGD:1641826
NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442
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Timm23
translocase of inner mitochondrial membrane 23
IEP
RGD
PMID:20943961
RGD:13463487
NCBI chr16:7,416,590...7,442,681
Ensembl chr16:7,416,597...7,442,658 Ensembl chr 3:7,416,597...7,442,658 Ensembl chr 6:7,416,597...7,442,658
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24534773
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Tomm20
translocase of outer mitochondrial membrane 20
IEP
RGD
PMID:20943961
RGD:13463487
NCBI chr19:71,822,429...71,832,420
Ensembl chr19:71,822,411...71,832,510
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Trim63
tripartite motif containing 63
IEP ISO
mRNA:increased expression:gastrocnemius CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21139329 PMID:11679633
RGD:633893
NCBI chr 5:151,817,209...151,831,026
Ensembl chr 5:151,817,225...151,831,058
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Ttpa
alpha tocopherol transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10896705
NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804
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Ucp2
uncoupling protein 2
ISO
mRNA:altered expression:quadriceps muscle (mouse)
RGD
PMID:19462004
RGD:10045654
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:164,251,373...164,257,743
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Ucp3
uncoupling protein 3
ISO
mRNA:altered expression:quadriceps muscle (mouse)
RGD
PMID:19462004
RGD:10045654
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:164,227,882...164,241,210
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Wwtr1
WW domain containing transcription regulator 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24550007
NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:143,801,181...143,991,950
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Cep63
centrosomal protein 63
ISO
ClinVar Annotator: match by term: KY-related condition | ClinVar Annotator: match by term: Myofibrillar myopathy 7
ClinVar
PMID:25741868 PMID:27484770 PMID:27485408 PMID:28492532 PMID:30591934
NCBI chr 8:112,041,586...112,093,061
Ensembl chr 8:112,041,594...112,084,646
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Ky
kyphoscoliosis peptidase
ISO
ClinVar Annotator: match by term: KY-related condition | ClinVar Annotator: match by term: Myofibrillar myopathy 7
OMIM ClinVar
PMID:25741868 PMID:27484770 PMID:27485408 PMID:28492532 PMID:30591934
NCBI chr 8:111,965,862...112,005,206
Ensembl chr 8:111,965,862...112,005,206
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Kcna1
potassium voltage-gated channel subfamily A member 1
IAGP ISO
ClinVar Annotator: match by term: Myokymia
ClinVar RGD
PMID:25741868 PMID:26467025 PMID:28492532 PMID:22206926
RGD:10047237
NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
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Kcna1Adms
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures
IAGP
RGD
PMID:22206926
RGD:10047237
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Micu1
mitochondrial calcium uptake 1
ISO
ClinVar Annotator: match by term: MICU1-related condition | ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs
OMIM ClinVar
PMID:16199547 PMID:24033266 PMID:24336167 PMID:25741868 PMID:27159402 PMID:28492532 PMID:28708303 PMID:29721912 PMID:31618753 PMID:32395406 PMID:33428302 More...
NCBI chr20:28,211,774...28,357,928
Ensembl chr20:28,211,691...28,359,919
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Clcn1
chloride voltage-gated channel 1
ISO
ClinVar Annotator: match by term: Myotonia
ClinVar
PMID:758138 PMID:7581380 PMID:7874130 PMID:8533761 PMID:8845168 PMID:8857727 PMID:10051520 PMID:10690989 PMID:10962018 PMID:12390967 PMID:16321142 PMID:17654559 PMID:17932099 PMID:18337100 PMID:18337730 PMID:20301529 PMID:21221019 PMID:21387378 PMID:22094069 PMID:22109722 PMID:22407275 PMID:22521272 PMID:22641783 PMID:23113340 PMID:23739125 PMID:23933576 PMID:24037712 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:25036107 PMID:25741868 PMID:26467025 PMID:26510092 PMID:26633545 PMID:27199537 PMID:27266866 PMID:27614575 PMID:27884173 PMID:28427807 PMID:28492532 PMID:28993909 PMID:31544778 PMID:32117024 PMID:32670189 PMID:33263785 PMID:33573884 PMID:34106991 PMID:34426522 PMID:34529042 PMID:36964972 PMID:37091313 PMID:37355912 More...
NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:72,139,162...72,168,128
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Dmpk
DM1 protein kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24039817
NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:87,858,316...87,868,910
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Fam131b
family with sequence similarity 131, member B
ISO
ClinVar Annotator: match by term: Myotonia
ClinVar
PMID:16321142 PMID:18337100 PMID:23113340 PMID:23739125 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 4:72,167,667...72,176,924
Ensembl chr 4:72,165,578...72,176,858
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Mbnl1
muscleblind-like splicing regulator 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24039817
NCBI chr 2:146,789,570...146,964,136
Ensembl chr 2:146,789,596...146,964,134
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Myotonia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305
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Scn4a
sodium voltage-gated channel alpha subunit 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myotonia
CTD ClinVar
PMID:8308722 PMID:25741868 PMID:26467025 PMID:27922499 PMID:28492532 PMID:32660787 PMID:32849172 PMID:33573884 More...
NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324
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Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
OMIM ClinVar
PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539
NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725
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Svbp
small vasohibin binding protein
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
OMIM ClinVar
PMID:25741868 PMID:30607023 PMID:31363758 PMID:39412222
NCBI chr 5:138,091,773...138,099,048
Ensembl chr 5:138,093,456...138,099,068
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Ntng2
netrin G2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
OMIM ClinVar
PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 PMID:39825153
NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821
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Pak1
p21 (RAC1) activated kinase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
ClinVar
PMID:25741868
NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:161,491,847...161,637,612
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Shmt2
serine hydroxymethyltransferase 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition
OMIM ClinVar
PMID:25741868 PMID:33015733
NCBI chr 7:65,244,247...65,249,580
Ensembl chr 7:65,244,247...65,249,567
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: HDAC4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies
OMIM ClinVar
PMID:10958686 PMID:11486037 PMID:25741868 PMID:28492532 PMID:33537682
NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637
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Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 5:29,094,475...29,141,874
Ensembl chr 5:29,094,475...29,142,099
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Madd
MAP-kinase activating death domain
ISO
ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28940097 PMID:29302074 PMID:32761064
NCBI chr 3:97,570,141...97,613,688
Ensembl chr 3:97,570,787...97,613,509
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
OMIM ClinVar
PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169
NCBI chr 8:53,626,382...53,630,042
Ensembl chr 8:53,625,474...53,630,241
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Afg2b
AFG2 AAA ATPase homolog B
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder
OMIM ClinVar
PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 PMID:38855775 More...
NCBI chr 3:130,148,061...130,162,458
Ensembl chr 3:130,148,301...130,162,112
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Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | ClinVar Annotator: match by term: VAMP2-related condition
OMIM ClinVar
PMID:11691998 PMID:15475946 PMID:25741868 PMID:30144509 PMID:30929742 PMID:32906212 PMID:35468861 More...
NCBI chr10:54,292,423...54,296,657
Ensembl chr10:54,292,806...54,296,654
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Clcn3
chloride voltage-gated channel 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:34186028
NCBI chr16:34,138,004...34,210,984
Ensembl chr16:34,137,952...34,210,984
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Pigk
phosphatidylinositol glycan anchor biosynthesis, class K
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
OMIM ClinVar
PMID:25741868 PMID:32220290 PMID:33392778
NCBI chr 2:244,289,928...244,375,394
Ensembl chr 2:244,250,621...244,376,030
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Gnb2
G protein subunit beta 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies
OMIM ClinVar
PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358
NCBI chr12:24,795,505...24,800,796
Ensembl chr12:24,795,827...24,800,796
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Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition
OMIM ClinVar
PMID:25741868 PMID:27431290 PMID:33420346
NCBI chr 8:54,132,799...54,174,921
Ensembl chr 8:54,132,801...54,174,835
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Zftraf1
zinc finger TRAF type containing 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay
ClinVar
NCBI chr 7:110,244,634...110,258,071
Ensembl chr 7:110,244,634...110,261,078
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Otud7a
OTU deubiquitinase 7A
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and seizures | ClinVar Annotator: match by term: OTUD7A-related condition
OMIM ClinVar
PMID:25741868 PMID:31997314 PMID:33381903
NCBI chr 1:126,476,275...126,800,037
Ensembl chr 1:126,693,712...126,799,301
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Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related condition
OMIM ClinVar
PMID:19344873 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31353023 PMID:33665635 More...
NCBI chr10:54,951,162...54,977,179
Ensembl chr10:54,951,162...54,977,179
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Puf60
poly-U binding splicing factor 60
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:109,663,490...109,674,724
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LOC120096085
U4 spliceosomal RNA
ISO
ClinVar Annotator: match by term: ReNU SYNDROME
ClinVar
PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538
NCBI chr12:46,786,790...46,786,930
Ensembl chr12:46,786,790...46,786,930
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Rnu4-2
RNA, U4 small nuclear 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME
OMIM ClinVar
PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538
NCBI chr 5:129,492,858...129,492,998
Ensembl chr 5:129,492,858...129,492,998
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Sirt4
sirtuin 4
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME
ClinVar
PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538
NCBI chr12:46,785,852...46,800,179
Ensembl chr12:46,791,898...46,800,173
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Trpm3
transient receptor potential cation channel, subfamily M, member 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
OMIM ClinVar
PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 PMID:32439617 PMID:34438093 PMID:35146895 PMID:36100855 More...
NCBI chr 1:229,099,741...229,984,172
Ensembl chr 1:229,099,542...229,984,172
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Pgm2l1
phosphoglucomutase 2-like 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
OMIM ClinVar
PMID:28492532 PMID:33979636
NCBI chr 1:163,983,917...164,033,027
Ensembl chr 1:163,983,917...164,033,027
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Ppp1r21
protein phosphatase 1, regulatory subunit 21
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | ClinVar Annotator: match by term: PPP1R21-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28940097 PMID:29808498 PMID:30520571 PMID:32985083 PMID:34997808 PMID:36692708 PMID:38356149 More...
NCBI chr 6:11,655,059...11,724,219
Ensembl chr 6:11,655,059...11,724,219
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Wbp4
WW domain binding protein 4
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
ClinVar OMIM
PMID:25741868 PMID:37963460
NCBI chr15:61,271,774...61,299,740
Ensembl chr15:61,271,783...61,299,740
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Gnai1
G protein subunit alpha i1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
OMIM ClinVar
PMID:25741868 PMID:28135719 PMID:28492532 PMID:33473207 PMID:34819662
NCBI chr 4:17,706,061...17,790,176
Ensembl chr 4:17,706,025...17,789,198
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
ClinVar
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
OMIM ClinVar
PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21878566 PMID:21910241 PMID:22581653 PMID:22840528 PMID:23313911 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:25260352 PMID:25633834 PMID:25741868 PMID:26227324 PMID:26822303 PMID:27593853 PMID:27662471 PMID:27868338 PMID:28211989 PMID:28371864 PMID:28492532 PMID:28750076 PMID:30513141 PMID:30847666 PMID:31737537 PMID:32233023 PMID:34163037 PMID:34999275 PMID:37901857 More...
NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
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Adarb1
adenosine deaminase, RNA-specific, B1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
OMIM ClinVar
PMID:25741868 PMID:32220291 PMID:32719099
NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,164...11,350,415
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Cpsf3
cleavage and polyadenylation specific factor 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
ClinVar
PMID:35121750
NCBI chr 6:46,564,855...46,592,776
Ensembl chr 6:46,564,735...46,594,136
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Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | ClinVar Annotator: match by term: RALGAPA1-related condition
OMIM ClinVar
PMID:25741868 PMID:32004447
NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:78,701,832...78,987,486
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Sel1l
SEL1L adaptor subunit of SYVN1 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
ClinVar OMIM
PMID:37943610 PMID:37943617
NCBI chr 6:116,466,163...116,510,436
Ensembl chr 6:116,466,163...116,510,578
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Ankrd44
ankyrin repeat domain 44
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
ClinVar
PMID:25741868
NCBI chr 9:63,621,193...63,921,999
Ensembl chr 9:63,555,869...63,921,940
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Hecw2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
OMIM ClinVar
PMID:23545411 PMID:25741868 PMID:27334371 PMID:27389779 PMID:28492532 PMID:29395664 PMID:29807643 PMID:33205896 PMID:33644862 PMID:34047014 PMID:34321324 More...
NCBI chr 9:62,853,904...63,247,472
Ensembl chr 9:62,859,645...63,074,758
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Ntng2
netrin G2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
ClinVar
PMID:25741868 PMID:31668703
NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821
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Mef2c
myocyte enhancer factor 2C
ISO
ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MEF2C-related disorder | ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE
OMIM ClinVar
PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19592390 PMID:19876902 PMID:20333642 PMID:20513142 PMID:22031302 PMID:22498567 PMID:23001426 PMID:23389741 PMID:24088041 PMID:25131622 PMID:25741868 PMID:25741869 PMID:26633542 PMID:26633545 PMID:27255693 PMID:27748065 PMID:28492532 PMID:28554332 PMID:28794905 PMID:29159939 PMID:29468350 PMID:29706646 PMID:29720203 PMID:29758562 PMID:29863696 PMID:30376817 PMID:30504930 PMID:30679432 PMID:30763456 PMID:31512412 PMID:32123317 PMID:32681840 PMID:33057194 PMID:33831796 PMID:33994118 PMID:34022131 PMID:34055696 PMID:36881370 PMID:37730226 More...
NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:15,708,924...15,871,640
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Dock3
dedicator of cyto-kinesis 3
ISO
ClinVar Annotator: match by term: DOCK3-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
OMIM ClinVar
PMID:25741868 PMID:28195318 PMID:28492532 PMID:29130632 PMID:30976111
NCBI chr 8:116,431,158...116,782,218
Ensembl chr 8:116,431,159...116,782,195
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Flvcr1
FLVCR choline and heme transporter 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
OMIM ClinVar
PMID:26467025 PMID:39306721
NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759
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Tmx2
thioredoxin-related transmembrane protein 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | ClinVar Annotator: match by term: TMX2-related condition
OMIM ClinVar
PMID:25741868 PMID:31586943 PMID:31735293
NCBI chr 3:90,161,628...90,169,278
Ensembl chr 3:90,160,930...90,169,278
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Psmb1
proteasome 20S subunit beta 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
ClinVar OMIM
PMID:32129449
NCBI chr 1:65,115,770...65,136,516
Ensembl chr 1:65,114,724...65,136,640
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Dync1i2
dynein cytoplasmic 1 intermediate chain 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
ClinVar
PMID:25741868 PMID:31079899
NCBI chr 3:76,441,621...76,492,782
Ensembl chr 3:76,424,469...76,492,782
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Prune1
prune exopolyphosphatase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition
OMIM ClinVar
PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 PMID:29797509 PMID:29940663 PMID:30556349 PMID:33105479 More...
NCBI chr 2:185,519,569...185,548,402
Ensembl chr 2:185,520,781...185,548,402
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Adam17
ADAM metallopeptidase domain 17
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:46,601,583...46,649,344
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Cpsf3
cleavage and polyadenylation specific factor 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
OMIM ClinVar
PMID:25741868
NCBI chr 6:46,564,855...46,592,776
Ensembl chr 6:46,564,735...46,594,136
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Iah1
isoamyl acetate hydrolyzing esterase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:46,594,177...46,601,394
Ensembl chr 6:46,594,080...46,601,392
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Ywhaq
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:46,664,358...46,694,875
Ensembl chr 6:46,664,358...46,694,875
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA-specific
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain abnormalities
ClinVar OMIM
PMID:25741868 PMID:39753114
NCBI chr 4:122,276,907...122,473,049
Ensembl chr 4:122,263,535...122,473,049
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Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain abnormalities
ClinVar
PMID:39753114
NCBI chr 4:122,489,754...122,524,666
Ensembl chr 4:122,489,680...122,524,665
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Gad1
glutamate decarboxylase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
ClinVar
PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 PMID:22662185 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32282878 PMID:32705143 PMID:33634263 More...
NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759
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Hpdl
4-hydroxyphenylpyruvate dioxygenase-like
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
OMIM ClinVar
PMID:9084927 PMID:9973289 PMID:15571623 PMID:25741868 PMID:32707086 PMID:33188300 PMID:33634263 PMID:33970200 PMID:35985664 More...
NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704
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Grm7
glutamate metabotropic receptor 7
ISO
ClinVar Annotator: match by term: GRM7-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
OMIM ClinVar
PMID:25741868 PMID:27435318 PMID:28492532 PMID:32286009
NCBI chr 4:145,286,714...146,169,099
Ensembl chr 4:145,286,924...146,169,201
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Ufc1
ubiquitin-fold modifier conjugating enzyme 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth | ClinVar Annotator: match by term: UFC1-related condition
OMIM ClinVar
PMID:25741868 PMID:27431290 PMID:29868776
NCBI chr13:86,241,779...86,280,513
Ensembl chr13:86,241,779...86,248,522
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Med27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
ClinVar OMIM
PMID:33443317
NCBI chr 3:33,027,240...33,201,240
Ensembl chr 3:33,027,525...33,201,240
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Nsrp1
nuclear speckle splicing regulatory protein 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
OMIM ClinVar
PMID:22112859 PMID:25741868 PMID:34385670
NCBI chr10:62,378,937...62,412,601
Ensembl chr10:62,378,955...62,412,601
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Eef1d
eukaryotic translation elongation factor 1 delta
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE
OMIM ClinVar
PMID:25741868 PMID:28097321 PMID:30787422 PMID:36576126 PMID:38083972
NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:109,462,646...109,489,531
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Tnr
tenascin R
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus
OMIM ClinVar
PMID:25741868 PMID:28334938 PMID:32099069
NCBI chr13:74,285,141...74,706,174
Ensembl chr13:74,507,366...74,701,115
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Filip1
filamin A interacting protein 1
ISO
ClinVar Annotator: match by term: Neuromuscular disorder, congenital, with dysmorphic facies
OMIM ClinVar
PMID:25741868 PMID:36943452 PMID:37163662
NCBI chr 8:89,641,509...89,836,772
Ensembl chr 8:89,644,579...89,802,771
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Clcn6
chloride voltage-gated channel 6
ISO
ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 PMID:38877824 More...
NCBI chr 5:163,715,593...163,748,301
Ensembl chr 5:163,717,439...163,748,198
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Dagla
diacylglycerol lipase, alpha
ISO
ClinVar Annotator: match by term: DAGLA-related condition | ClinVar Annotator: match by term: Paroxysmal tonic upgaze, benign childhood, with ataxia
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35737950
NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:216,315,516...216,372,111
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Acad9
acyl-CoA dehydrogenase family, member 9
ISO ISS
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM:611126 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:23836383 PMID:23996478 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26467025 PMID:26475292 PMID:26669660 PMID:26826406 PMID:27233227 PMID:27290639 PMID:27438479 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:30831263 PMID:31658717 PMID:31665838 PMID:32313153 PMID:32746448 PMID:33027564 PMID:34023438 PMID:34426522 PMID:34440436 PMID:34646991 PMID:37064341 PMID:37432431 PMID:38703036 More...
NCBI chr 2:120,871,329...120,894,306
Ensembl chr 2:120,871,227...120,894,709
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:28492532 PMID:29146704 More...
NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
ClinVar
PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 More...
NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955
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Cfap92
cilia and flagella associated protein 92
ISO
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:27233227 PMID:28492532 PMID:30025539 PMID:30831263 PMID:32746448 PMID:34426522 PMID:34646991 PMID:38703036 More...
NCBI chr 4:121,683,889...121,738,920
Ensembl chr 4:121,683,889...121,737,802
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Cplane1
ciliogenesis and planar polarity effector complex subunit 1
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:29146704 PMID:29605658 PMID:30408610 PMID:31130284 PMID:32233090 PMID:33176815 More...
NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817
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Mitf
melanocyte inducing transcription factor
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:24033266 PMID:24660985 PMID:25741868 PMID:27153395 PMID:28492532
NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790
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Mogs
mannosyl-oligosaccharide glucosidase
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:24716661
NCBI chr 4:117,179,335...117,182,738
Ensembl chr 4:117,179,335...117,182,744
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 PMID:15358028 PMID:15519027 PMID:15856146 PMID:16715312 PMID:18403758 PMID:18409188 PMID:18957093 PMID:19150014 PMID:19659763 PMID:20019025 PMID:20624503 PMID:21185001 PMID:21239446 PMID:21638988 PMID:22267749 PMID:22455086 PMID:22857948 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24510615 PMID:24704860 PMID:25031304 PMID:25741868 PMID:26671970 PMID:27532257 PMID:27688314 PMID:27737317 PMID:28024942 PMID:28492532 PMID:28615295 PMID:29121657 PMID:29447731 PMID:30847666 PMID:30871747 PMID:31447099 PMID:33673806 PMID:35535697 More...
NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:97,551,061...97,569,216
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:23555315 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26976419 PMID:27443514 PMID:28492532 PMID:28873162 PMID:30564542 PMID:32959997 More...
NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162
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Pex6
peroxisomal biogenesis factor 6
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar
PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 PMID:26387595 PMID:28492532 PMID:29220678 More...
NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908
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Lrrk1
leucine-rich repeat kinase 1
ISO
ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia
OMIM ClinVar
PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 PMID:31571209 PMID:32119750 More...
NCBI chr 1:129,254,815...129,390,217
Ensembl chr 1:129,254,515...129,389,941
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Ccdc88a
coiled coil domain containing 88A
ISO
ClinVar Annotator: match by term: CCDC88A-related condition | ClinVar Annotator: match by term: PEHO-like syndrome
OMIM ClinVar
PMID:25741868 PMID:26917597 PMID:28492532 PMID:30392057 PMID:37798908 PMID:39334473 More...
NCBI chr14:107,304,654...107,456,104
Ensembl chr14:107,305,199...107,453,285
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Csnk2a1
casein kinase 2 alpha 1
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:28492532
NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:161,170,405...161,215,698
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Rbck1
RANBP2-type and C3HC4-type zinc finger containing 1
ISO
ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency
OMIM ClinVar
PMID:2379848 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18691923 PMID:23104095 PMID:23798481 PMID:23889995 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29260357 PMID:31127727 PMID:31407473 PMID:32187699 PMID:33413275 More...
NCBI chr 3:161,249,389...161,266,321
Ensembl chr 3:161,249,390...161,266,032
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Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:28492532
NCBI chr15:33,053,450...33,065,285
Ensembl chr15:33,053,607...33,065,284
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Scrt2
scratch family transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:28492532
NCBI chr 3:161,041,651...161,055,596
Ensembl chr 3:161,041,651...161,055,596
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Slc52a3
solute carrier family 52 member 3
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:28492532
NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:160,965,302...160,974,692
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Srxn1
sulfiredoxin 1
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:28492532
NCBI chr 3:161,064,812...161,070,372
Ensembl chr 3:161,059,931...161,088,765
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Tbc1d20
TBC1 domain family, member 20
ISO
ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:2379848 PMID:23104095 PMID:23889995 PMID:28492532
NCBI chr 3:161,228,699...161,247,319
Ensembl chr 3:161,228,785...161,247,316
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Tcf15
transcription factor 15
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar
PMID:28492532
NCBI chr 3:161,099,301...161,105,083
Ensembl chr 3:161,099,301...161,105,083
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Gyg1
glycogenin 1
ISO
ClinVar Annotator: match by term: Polyglucosan body myopathy type 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20357282 PMID:24033266 PMID:25272951 PMID:25741868 PMID:26652229 PMID:26944241 PMID:27718144 PMID:28453664 PMID:28492532 PMID:29143313 PMID:29264399 PMID:29422440 PMID:31791869 PMID:32477874 PMID:32528171 PMID:34426522 PMID:34662886 More...
NCBI chr 2:104,540,927...104,583,038
Ensembl chr 2:104,540,533...104,582,818
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1
ClinVar
NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1
ClinVar OMIM
PMID:9536098 PMID:12682339 PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17576681 PMID:17855635 PMID:20495179 PMID:20689595 PMID:23343605 PMID:23349334 PMID:23758206 PMID:24033266 PMID:24988567 PMID:24988568 PMID:25078619 PMID:25349199 PMID:25525159 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27394078 PMID:27493029 PMID:28492532 PMID:28780565 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30180404 PMID:30295827 PMID:30613928 PMID:31589614 PMID:32604935 PMID:32746448 PMID:33187544 PMID:35483523 PMID:38703036 More...
NCBI chr14:9,245,777...9,265,784
Ensembl chr14:9,245,803...9,265,783
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1
ClinVar
PMID:24033266
NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378
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Abi1
abl-interactor 1
ISO
ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
ClinVar
PMID:25741868
NCBI chr17:90,006,917...90,088,002
Ensembl chr17:90,006,925...90,087,827
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Pdss1
decaprenyl diphosphate synthase subunit 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | ClinVar Annotator: match by term: PDSS1-related condition
OMIM ClinVar
PMID:9536098 PMID:17332895 PMID:17576681 PMID:22494076 PMID:25264263 PMID:25741868 PMID:28492532 PMID:31683770 PMID:33285023 PMID:34765390 PMID:36266294 PMID:38703036 More...
NCBI chr17:89,964,768...90,006,819
Ensembl chr17:89,968,034...90,006,817
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Pdss2
decaprenyl diphosphate synthase subunit 2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition
OMIM ClinVar
PMID:9536098 PMID:17186472 PMID:17374725 PMID:17576681 PMID:19096106 PMID:20495179 PMID:20689595 PMID:23816342 PMID:25349199 PMID:25741868 PMID:28492532 PMID:29127259 More...
NCBI chr20:48,291,788...48,520,846
Ensembl chr20:48,291,797...48,535,689
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Cdc42bpa
CDC42 binding protein kinase alpha
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar
PMID:24164873
NCBI chr13:94,215,359...94,435,681
Ensembl chr13:94,215,959...94,435,681
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Coq8a
coenzyme Q8A
ISO ISS
ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM:612016
OMIM ClinVar MouseDO
PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 PMID:18319072 PMID:18319074 PMID:18414213 PMID:19440741 PMID:20495179 PMID:20580948 PMID:21873089 PMID:22036850 PMID:24033266 PMID:24048965 PMID:24164873 PMID:24218524 PMID:25131622 PMID:25280894 PMID:25356967 PMID:25356970 PMID:25498144 PMID:25525159 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26640698 PMID:26757139 PMID:26764160 PMID:27106809 PMID:27142713 PMID:27535533 PMID:27848944 PMID:27884173 PMID:28492532 PMID:29159460 PMID:29255295 PMID:29482223 PMID:29915382 PMID:30548255 PMID:30637285 PMID:30850373 PMID:30968303 PMID:31589614 PMID:31621627 PMID:31890231 PMID:32058622 PMID:32334381 PMID:32337771 PMID:32637629 PMID:32685350 PMID:32743982 PMID:32771712 PMID:32830305 PMID:32958805 PMID:32961396 PMID:33098801 PMID:33622667 PMID:33677064 PMID:33949708 PMID:34445196 PMID:34638552 PMID:34663476 PMID:34712575 PMID:35872528 PMID:36295857 PMID:37476682 PMID:37636224 PMID:38570878 PMID:38703036 PMID:39825153 More...
NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378
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Coq9
coenzyme Q9
ISO
ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OMIM ClinVar
PMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 PMID:23255162 PMID:25741868 PMID:25802402 PMID:26081641 PMID:27629047 PMID:28492532 PMID:28736527 PMID:29255295 PMID:30482867 More...
NCBI chr19:10,172,943...10,185,960
Ensembl chr19:10,172,949...10,185,937
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Coq6
coenzyme Q6 monooxygenase
ISO
ClinVar Annotator: match by term: COQ6-related condition | ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OMIM ClinVar
PMID:21540551 PMID:24140869 PMID:25324289 PMID:25741868 PMID:28044327 PMID:28117207 PMID:28173653 PMID:28492532 PMID:30232548 PMID:30584653 PMID:30682496 PMID:31937884 PMID:32604935 PMID:33847019 PMID:33946315 PMID:35483523 PMID:38703036 More...
NCBI chr 6:109,738,934...109,750,315
Ensembl chr 6:109,738,951...109,750,310
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Entpd5
ectonucleoside triphosphate diphosphohydrolase 5
ISO
ClinVar Annotator: match by term: COQ6-related condition | ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
ClinVar
PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 PMID:28173653 PMID:28492532 PMID:30232548 PMID:30584653 PMID:30682496 PMID:31937884 PMID:35483523 More...
NCBI chr 6:109,750,210...109,786,376
Ensembl chr 6:109,753,204...109,786,495
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Abca2
ATP binding cassette subfamily A member 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,642,660...28,662,689
Ensembl chr 3:28,642,758...28,662,681
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:35,377,391...35,480,846
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,560,172...30,604,758
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540
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Adamtsl2
ADAMTS-like 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581
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Aif1l
allograft inflammatory factor 1-like
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,627,239...35,651,793
Ensembl chr 3:35,627,239...35,651,793
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Ajm1
apical junction component 1 homolog
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,793,078...28,799,459
Ensembl chr 3:28,774,457...28,800,096
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Ak1
adenylate kinase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757
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Ak8
adenylate kinase 8
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,426,892...32,542,432
Ensembl chr 3:32,426,421...32,542,431
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Anapc2
anaphase promoting complex subunit 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,484,590...28,496,338
Ensembl chr 3:28,484,614...28,496,337
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Arrdc1
arrestin domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,133,190...28,140,378
Ensembl chr 3:28,133,191...28,140,687
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Asb6
ankyrin repeat and SOCS box-containing 6
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,508,390...34,513,033
Ensembl chr 3:34,508,140...34,513,033
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Ass1
argininosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,144,765...35,194,632
Ensembl chr 3:35,144,999...35,194,627
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Barhl1
BarH-like homeobox 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,639,283...32,646,605
Ensembl chr 3:32,638,644...32,646,605
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Bbln
bublin coiled coil protein
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,072,325...36,075,070
Ensembl chr 3:36,072,328...36,075,093
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Brd3
bromodomain containing 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:31,173,332...31,227,749
Ensembl chr 3:31,173,332...31,227,629
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C3h9orf50
similar to human chromosome 9 open reading frame 50
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,477,535...34,484,791
Ensembl chr 3:34,478,508...34,484,805
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C3h9orf78
similar to human chromosome 9 open reading frame 78
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,662,011...34,670,282
Ensembl chr 3:34,661,630...34,670,282
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C8g
complement C8 gamma chain
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,718,648...28,720,232
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Cacfd1
calcium channel flower domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,733,958...30,750,237
Ensembl chr 3:30,736,637...30,744,764
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Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285
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Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:29,144,318...29,204,184
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Card9
caspase recruitment domain family, member 9
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402
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Ccdc183
coiled-coil domain containing 183
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,826,918...28,837,072
Ensembl chr 3:28,826,921...28,835,326
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Cdk9
cyclin-dependent kinase 9
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,394,168...36,399,016
Ensembl chr 3:36,394,169...36,399,528
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Cel
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,281,518...32,289,019
Ensembl chr 3:32,281,518...32,289,019
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Cercam
cerebral endothelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,515,513...33,553,817
Ensembl chr 3:33,486,664...33,553,813
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Cfap157
cilia and flagella associated protein 157
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,464,219...36,471,193
Ensembl chr 3:36,464,219...36,471,193
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Cfap77
cilia and flagella associated protein 77
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,656,410...32,779,261
Ensembl chr 3:32,656,410...32,779,261
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Cimip2a
ciliary microtubule inner protein 2A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,429,413...28,437,210
Ensembl chr 3:28,431,410...28,436,125
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Ciz1
CDKN1A interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,055,753...36,071,510
Ensembl chr 3:36,056,370...36,075,192
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Clic3
chloride intracellular channel 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,670,176...28,672,166
Ensembl chr 3:28,670,229...28,675,723
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020
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Coq4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22368301 PMID:25658047 PMID:25741868 PMID:26185144 PMID:26795593 PMID:27513193 PMID:28492532 PMID:28540186 PMID:30109123 PMID:30659264 PMID:31325447 PMID:31332438 PMID:31396399 PMID:31440721 PMID:31967322 PMID:32056211 PMID:32718099 PMID:32860008 PMID:32907636 PMID:33206935 PMID:33215859 PMID:33677064 PMID:33704555 PMID:33739554 PMID:34440436 PMID:34445196 PMID:34656997 PMID:34992632 PMID:35598585 PMID:36047608 PMID:38013626 PMID:38014483 PMID:38493042 More...
NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:33,457,596...33,468,379
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099
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Cysrt1
cysteine rich tail 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,452,359...28,456,006
Ensembl chr 3:28,451,219...28,456,118
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Dbh
dopamine beta-hydroxylase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316
G
Ddx31
DEAD-box helicase 31
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,570,725...32,635,446
Ensembl chr 3:32,571,020...32,636,954
G
Dipk1b
divergent protein kinase domain 1B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,852,710...29,862,248
Ensembl chr 3:29,853,973...29,862,255
G
Dnlz
DNL-type zinc finger
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,568,041...29,569,937
Ensembl chr 3:29,568,041...29,569,996
G
Dnm1
dynamin 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:36,002,064...36,046,289
G
Dolk
dolichol kinase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,955,642...33,957,680
Ensembl chr 3:33,954,308...33,958,365
G
Dolpp1
dolichyldiphosphatase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,063,825...34,072,133
Ensembl chr 3:34,063,825...34,072,132
G
Dph7
diphthamide biosynthesis 7
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,168,466...28,177,173
Ensembl chr 3:28,168,547...28,177,173
G
Dpm2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,253,548...36,256,592
G
Dpp7
dipeptidylpeptidase 7
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,563,240...28,567,492
Ensembl chr 3:28,563,240...28,567,492
G
Dync2i2
dynein 2 intermediate chain 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,703,882...33,719,960
Ensembl chr 3:33,703,882...33,719,960
G
Edf1
endothelial differentiation-related factor 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,764,906...28,779,499
G
Eeig1
estrogen-induced osteoclastogenesis regulator 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,220,170...36,252,377
Ensembl chr 3:36,211,730...36,252,378
G
Egfl7
EGF-like-domain, multiple 7
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,802,481...29,814,966
Ensembl chr 3:29,802,690...29,814,951
G
Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:27,978,888...28,127,349
G
Endog
endonuclease G
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,846,935...33,849,531
Ensembl chr 3:33,846,885...33,849,573
G
Eng
endoglin
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933
G
Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,611,722...28,617,237
Ensembl chr 3:28,611,772...28,618,184
G
Entpd8
ectonucleoside triphosphate diphosphohydrolase 8
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,283,392...28,295,686
Ensembl chr 3:28,285,777...28,293,686
G
Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898
G
Exosc2
exosome component 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:35,360,666...35,371,373
G
Fam163b
family with sequence similarity 163, member B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,834,145...30,865,802
Ensembl chr 3:30,834,146...30,864,530
G
Fam78a
family with sequence similarity 78, member A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,753,712...35,771,600
Ensembl chr 3:35,753,712...35,770,448
G
Fbxw5
F-box and WD repeat domain containing 5
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,720,670...28,725,237
Ensembl chr 3:28,720,778...28,725,235
G
Fcnb
ficolin B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:31,791,750...31,800,188
Ensembl chr 3:31,791,750...31,800,188
G
Fibcd1
fibrinogen C domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,490,459...35,524,142
Ensembl chr 3:35,490,459...35,524,142
G
Fnbp1
formin binding protein 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,706,814...34,826,770
Ensembl chr 3:34,706,814...34,822,117
G
Fpgs
folylpolyglutamate synthase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:36,370,300...36,391,068
G
Fubp3
far upstream element binding protein 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,253,216...35,302,282
Ensembl chr 3:35,253,306...35,302,280
G
Fut7
fucosyltransferase 7
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,635,913...28,640,407
Ensembl chr 3:28,637,107...28,641,388
G
Gbgt1
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,219,370...32,227,737
G
Gfi1b
growth factor independent 1B transcriptional repressor
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:32,338,214...32,350,916
G
Gle1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,607,160...33,638,879
G
Glt6d1
glycosyltransferase 6 domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,026,023...29,037,010
Ensembl chr 3:29,026,025...29,036,699
G
Golga2
golgin A2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:35,981,783...36,002,023
Ensembl chr 3:35,981,499...36,002,022
G
Gpr107
G protein-coupled receptor 107
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,832,462...34,893,692
Ensembl chr 3:34,832,480...34,893,654
G
Gpsm1
G-protein signaling modulator 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:29,526,802...29,565,920
G
Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754
G
Gtf3c4
general transcription factor IIIC subunit 4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,552,773...32,570,705
Ensembl chr 3:32,555,628...32,570,689
G
Gtf3c5
general transcription factor IIIC subunit 5
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,291,851...32,312,188
Ensembl chr 3:32,291,859...32,312,164
G
Hmcn2
hemicentin 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,986,246...35,136,047
Ensembl chr 3:34,986,263...35,136,106
G
Ier5l
immediate early response 5-like
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,141,866...34,143,457
Ensembl chr 3:34,139,672...34,144,452
G
Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542
G
Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768
G
Kyat1
kynurenine aminotransferase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,857,407...33,891,153
Ensembl chr 3:33,857,743...33,890,642
G
Lamc3
laminin subunit gamma 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,562,989...35,624,460
Ensembl chr 3:35,562,713...35,624,460
G
Lcn1
lipocalin 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,930,943...29,935,418
G
Lcn10
lipocalin 10
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,888,901...28,892,454
Ensembl chr 3:28,888,860...28,892,453
G
Lcn12
lipocalin 12
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:28,707,042...28,720,501
G
Lcn2
lipocalin 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
G
Lcn6
lipocalin 6
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,882,133...28,887,697
Ensembl chr 3:28,882,133...28,887,694
G
Lcn8
lipocalin 8
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,866,061...28,869,045
Ensembl chr 3:28,866,061...28,869,045
G
Lcn9
lipocalin 9
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,041,710...29,050,677
Ensembl chr 3:29,041,133...29,044,895
G
Lhx3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:29,424,620...29,432,637
G
Lrrc26
leucine rich repeat containing 26
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,500,517...28,501,843
Ensembl chr 3:28,500,517...28,501,843
G
Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,902,299...33,934,989
Ensembl chr 3:33,908,268...33,933,625
G
Mamdc4
MAM domain containing 4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,780,523...28,789,139
Ensembl chr 3:28,780,523...28,789,139
G
Man1b1
mannosidase, alpha, class 1B, member 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,539,778...28,563,155
Ensembl chr 3:28,541,347...28,563,154
G
Med22
mediator complex subunit 22
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,631,829...30,636,911
Ensembl chr 3:30,631,829...30,636,911
G
Med27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,027,240...33,201,240
Ensembl chr 3:33,027,525...33,201,240
G
Miga2
mitoguardin 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,034,018...34,056,703
Ensembl chr 3:34,034,044...34,056,703
G
Mir126a
microRNA 126a
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,813,150...29,813,267
G
Mir219b
microRNA 219b
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,516,501...33,516,600
Ensembl chr 3:33,516,501...33,516,600
G
Mrpl41
mitochondrial ribosomal protein L41
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,178,837...28,179,755
Ensembl chr 3:28,162,197...28,181,250
G
Mrps2
mitochondrial ribosomal protein S2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,201,037...32,204,317
Ensembl chr 3:32,198,641...32,204,892
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374
G
Nacc2
NACC family member 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:29,281,190...29,344,840
G
Naif1
nuclear apoptosis inducing factor 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,138,982...36,145,414
Ensembl chr 3:36,138,982...36,145,414
G
Ncs1
neuronal calcium sensor 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,920,949...34,966,554
Ensembl chr 3:34,920,971...34,968,711
G
Ndor1
NADPH dependent diflavin oxidoreductase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,460,787...28,469,018
Ensembl chr 3:28,460,797...28,469,018
G
Nelfb
negative elongation factor complex member B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,409,045...28,425,564
Ensembl chr 3:28,409,050...28,425,564
G
Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
G
Noxa1
NADPH oxidase activator 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,293,643...28,309,828
Ensembl chr 3:28,293,658...28,304,022
G
Npdc1
neural proliferation, differentiation and control, 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,618,601...28,624,591
G
Nrarp
Notch-regulated ankyrin repeat protein
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,390,745...28,393,299
Ensembl chr 3:28,390,733...28,393,453
G
Nsmf
NMDA receptor synaptonuclear signaling and neuronal migration factor
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:28,260,004...28,268,789
G
Ntmt1
N-terminal Xaa-Pro-Lys N-methyltransferase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,490,972...34,508,316
Ensembl chr 3:34,484,388...34,508,417
G
Ntng2
netrin G2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821
G
Nup188
nucleoporin 188
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,957,778...34,014,122
Ensembl chr 3:33,957,791...34,014,122
G
Nup214
nucleoporin 214
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,652,841...35,738,323
Ensembl chr 3:35,652,858...35,739,192
G
Obp2a
odorant binding protein 2A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,904,024...28,907,391
Ensembl chr 3:28,902,876...28,907,389
G
Obp2b
odorant binding protein 2B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,960,375...28,983,394
Ensembl chr 3:28,980,186...28,983,370
G
Odf2
outer dense fiber of sperm tails 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,557,738...33,605,076
Ensembl chr 3:33,558,832...33,605,076
G
Olfm1
olfactomedin 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:31,918,512...31,956,261
Ensembl chr 3:31,918,573...31,956,260
G
Paep
progestagen associated endometrial protein
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,929,252...28,932,592
G
Paxx
PAXX, non-homologous end joining factor
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,672,906...28,676,252
Ensembl chr 3:28,672,906...28,674,466
G
Phpt1
phosphohistidine phosphatase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,791,062...28,792,905
G
Phyhd1
phytanoyl-CoA dioxygenase domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,933,487...33,951,614
Ensembl chr 3:33,937,898...33,951,614
G
Pierce1
piercer of microtubule wall 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,195,024...32,201,111
Ensembl chr 3:32,195,024...32,199,561
G
Pip5kl1
phosphatidylinositol-4-phosphate 5-kinase-like 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,258,141...36,266,902
Ensembl chr 3:36,258,102...36,266,888
G
Pkn3
protein kinase N3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,747,610...33,761,405
Ensembl chr 3:33,747,867...33,761,405
G
Plpp7
phospholipid phosphatase 7 (inactive)
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,782,215...35,796,577
Ensembl chr 3:35,782,204...35,796,575
G
Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:29,604,232...29,614,935
G
Pnpla7
patatin-like phospholipase domain containing 7
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,180,670...28,259,673
Ensembl chr 3:28,180,751...28,259,672
G
Pomt1
protein-O-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364
G
Ppp1r26
protein phosphatase 1, regulatory subunit 26
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,179,686...32,188,069
Ensembl chr 3:32,177,235...32,188,264
G
Prdm12
PR/SET domain 12
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,322,962...35,341,878
Ensembl chr 3:35,322,962...35,341,878
G
Prrc2b
proline-rich coiled-coil 2B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,831,017...35,916,854
Ensembl chr 3:35,863,046...35,916,854
G
Prrx2
paired related homeobox 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,530,331...34,566,284
Ensembl chr 3:34,520,173...34,566,284
G
Ptgds
prostaglandin D2 synthase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978
G
Ptges
prostaglandin E synthase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,575,643...34,586,987
Ensembl chr 3:34,575,639...34,586,995
G
Ptges2
prostaglandin E synthase 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,088,246...36,095,430
Ensembl chr 3:36,088,246...36,097,694
G
Ptpa
protein phosphatase 2 phosphatase activator
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,087,637...34,118,100
Ensembl chr 3:34,087,575...34,162,772
G
Ptrh1
peptidyl-tRNA hydrolase 1 homolog
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,462,575...36,475,605
Ensembl chr 3:36,462,575...36,476,139
G
Qrfp
pyroglutamylated RFamide peptide
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,485,579...35,487,902
Ensembl chr 3:35,485,822...35,486,202
G
Qsox2
quiescin sulfhydryl oxidase 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,433,091...29,462,739
Ensembl chr 3:29,433,091...29,463,036
G
Rabl6
RAB, member RAS oncogene family-like 6
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,800,802...28,826,722
Ensembl chr 3:28,800,802...28,826,722
G
Ralgds
ral guanine nucleotide dissociation stimulator
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,237,644...32,278,045
Ensembl chr 3:32,237,786...32,278,045
G
Rapgef1
Rap guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,296,211...33,414,119
Ensembl chr 3:33,296,230...33,414,119
G
Rexo4
REX4 homolog, 3'-5' exonuclease
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,678,729...30,692,376
Ensembl chr 3:30,678,740...30,689,059
G
Rnf208
ring finger protein 208
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,455,836...28,457,879
Ensembl chr 3:28,395,769...28,458,093
G
Rnf224
ring finger protein 224
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,448,248...28,450,576
Ensembl chr 3:28,448,248...28,450,981
G
Rnu6atac
RNA, U6atac small nuclear
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 2:214,235,383...214,235,512
Ensembl chr 2:214,235,383...214,235,512
G
Rpl7a
ribosomal protein L7A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,637,136...30,639,778
Ensembl chr 3:30,637,059...30,639,791 Ensembl chr18:30,637,059...30,639,791
G
Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417
G
Sapcd2
suppressor APC domain containing 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,583,615...28,590,694
Ensembl chr 3:28,585,416...28,591,389
G
Sardh
sarcosine dehydrogenase
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,908,621...30,973,409
Ensembl chr 3:30,908,621...30,972,137
G
Sec16a
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,627,779...29,662,925
Ensembl chr 3:29,627,779...29,662,319
G
Set
Set nuclear proto-oncogene
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,732,319...33,743,433
G
Setx
senataxin
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740
G
Sh2d3c
SH2 domain containing 3C
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,408,305...36,444,191
Ensembl chr 3:36,408,304...36,444,716
G
Sh3glb2
SH3 domain-containing GRB2-like endophilin B2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,014,746...34,029,607
Ensembl chr 3:34,014,746...34,029,566
G
Slc25a25
solute carrier family 25 member 25
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,106,448...36,139,812
Ensembl chr 3:36,106,449...36,140,011
G
Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,472,903...33,485,824
Ensembl chr 3:33,472,903...33,485,824
G
Slc2a6
solute carrier family 2 member 6
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,746,472...30,753,287
Ensembl chr 3:30,745,995...30,753,287
G
Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997
G
Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610
G
Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,061,267...29,065,588
Ensembl chr 3:29,061,267...29,065,588
G
Spaca9
sperm acrosome associated 9
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,417,350...32,426,776
Ensembl chr 3:32,417,350...32,426,934
G
Spout1
SPOUT domain containing methyltransferase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,849,007...33,856,564
Ensembl chr 3:33,849,007...33,856,269
G
Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889
G
Ssna1
SS nuclear autoantigen 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,483,107...28,484,571
Ensembl chr 3:28,483,107...28,484,608
G
St6galnac4
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,269,834...36,282,971
Ensembl chr 3:36,269,878...36,282,971
G
St6galnac6
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,283,573...36,305,217
Ensembl chr 3:36,283,629...36,305,216
G
Stkld1
serine/threonine kinase-like domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,659,659...30,678,650
Ensembl chr 3:30,659,699...30,678,650
G
Stpg3
sperm-tail PG-rich repeat containing 3
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,426,283...28,432,857
Ensembl chr 3:28,426,292...28,428,692
G
Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058
G
Surf1
SURF1, cytochrome c oxidase assembly factor
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,639,868...30,642,759
G
Surf2
surfeit 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,642,735...30,648,525
Ensembl chr 3:30,642,729...30,647,198
G
Surf4
surfeit 4
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,646,435...30,659,641
Ensembl chr 3:30,638,299...30,661,390
G
Surf6
surfeit 6
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,619,525...30,630,388
Ensembl chr 3:30,619,530...30,630,247
G
Swi5
SWI5 homologous recombination repair protein
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:35,972,436...35,981,658
Ensembl chr 3:35,972,436...35,981,554
G
Tbc1d13
TBC1 domain family, member 13
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,806,772...33,823,346
Ensembl chr 3:33,795,746...33,823,345
G
Tmem141
transmembrane protein 141
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,837,665...28,839,623
Ensembl chr 3:28,836,576...28,839,623
G
Tmem203
transmembrane protein 203
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,469,062...28,469,890
Ensembl chr 3:28,465,345...28,472,140
G
Tmem210
transmembrane protein 210
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,498,751...28,499,801
Ensembl chr 3:28,498,751...28,499,801
G
Tmem250
transmembrane protein 250
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:29,360,770...29,364,462
G
Tor1a
torsin family 1, member A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,648,421...34,655,453
Ensembl chr 3:34,648,422...34,655,417
G
Tor1b
torsin family 1, member B
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,640,929...34,647,023
Ensembl chr 3:34,640,931...34,647,027
G
Tor2a
torsin family 2, member A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,446,260...36,450,339
Ensembl chr 3:36,446,273...36,450,908
G
Tor4a
torsin family 4, member A
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,402,454...28,406,141
Ensembl chr 3:28,399,513...28,406,473
G
Tprn
taperin
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117
G
Traf2
Tnf receptor-associated factor 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,740,098...28,764,752
Ensembl chr 3:28,740,098...28,764,691
G
Trub2
TruB pseudouridine synthase family member 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:22368301 PMID:25658047 PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:36047608 More...
NCBI chr 3:33,447,101...33,457,712
Ensembl chr 3:33,431,628...33,457,726
G
Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:32,367,670...32,416,568
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:25741868 PMID:26467025 PMID:28215400 PMID:28492532
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600
G
Ttc16
tetratricopeptide repeat domain 16
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:36,450,271...36,462,590
Ensembl chr 3:36,446,272...36,462,368
G
Ttf1
transcription termination factor 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:32,782,544...32,807,202
Ensembl chr 3:32,782,308...32,807,201
G
Tubb4b
tubulin, beta 4B class IVb
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,435,999...28,438,455
Ensembl chr 3:28,435,148...28,439,719
G
Uap1l1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630
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Ubac1
UBA domain containing 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,223,582...29,246,216
Ensembl chr 3:29,204,570...29,246,161
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Uck1
uridine-cytidine kinase 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:35,936,328...35,942,213
Ensembl chr 3:35,936,339...35,954,311
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Urm1
ubiquitin related modifier 1
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
NCBI chr 3:33,489,974...33,514,942
Ensembl chr 3:33,489,892...33,516,715
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Usp20
ubiquitin specific peptidase 20
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:34,670,613...34,704,156
Ensembl chr 3:34,670,685...34,704,156
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Vav2
vav guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:30,982,754...31,152,116
Ensembl chr 3:30,982,754...31,152,116
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Wdr5
WD repeat domain 5
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:31,233,048...31,254,730
Ensembl chr 3:31,235,222...31,254,727
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Zdhhc12
zinc finger DHHC-type palmitoyltransferase 12
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,761,338...33,764,207
Ensembl chr 3:33,761,353...33,764,323
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Zer1
zyg-11 related, cell cycle regulator
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:33,767,520...33,806,716
Ensembl chr 3:33,767,520...33,807,098
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Zmynd19
zinc finger, MYND-type containing 19
ISO
ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ClinVar
PMID:28492532
NCBI chr 3:28,156,314...28,167,903
Ensembl chr 3:28,156,314...28,167,902
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Coq7
coenzyme Q7, hydroxylase
ISO
ClinVar Annotator: match by term: COQ7-related condition | ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8
OMIM ClinVar
PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 PMID:31240163 PMID:32963807 PMID:33215859 PMID:35094435 PMID:35370630 PMID:35782625 PMID:36454683 PMID:36758993 PMID:37077559 PMID:37170631 PMID:37392700 More...
NCBI chr 1:182,270,570...182,285,959
Ensembl chr 1:182,269,399...182,285,508
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Coq5
coenzyme Q5, methyltransferase
ISO
ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29044765
NCBI chr12:46,977,632...46,994,575
Ensembl chr12:46,977,632...46,994,712
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Zbtb20
zinc finger and BTB domain containing 20
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primrose syndrome | ClinVar Annotator: match by term: ZBTB20-related condition
CTD ClinVar OMIM
PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:27061120 PMID:28327206 PMID:28462983 PMID:28492532 PMID:29737001 PMID:30256248 PMID:30637921 PMID:31321892 PMID:32071410 PMID:32266967 PMID:38177409 More...
NCBI chr11:70,558,010...71,297,039
Ensembl chr11:70,580,930...70,736,237
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
PMID:25741868
NCBI chr17:56,030,409...56,072,952
Ensembl chr17:56,030,409...56,072,952
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
OMIM ClinVar
PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 PMID:39252126 More...
NCBI chr17:55,983,627...56,031,578
Ensembl chr17:55,985,707...56,032,302
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Spen
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Radio-Tartaglia syndrome | ClinVar Annotator: match by term: SPEN-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28404951 PMID:28492532 PMID:33596411
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:159,058,258...159,165,934
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Aifm1
apoptosis inducing factor, mitochondria associated 1
severity
IEP
RNA:increased expression:plantaris muscle:
RGD
PMID:17029665
RGD:2325745
NCBI chr X:132,528,107...132,567,237
Ensembl chr X:132,528,107...132,567,237
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Ak1
adenylate kinase 1
IEP
protein:increased expression:gastrocnemius muscle (rat)
RGD
PMID:17611631
RGD:5147990
NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757
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Ar
androgen receptor
treatment
ISO IDA
RGD
PMID:24177288 PMID:17049844
RGD:10043306 , RGD:10043311
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:67,135,317...67,304,467
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Atp5f1a
ATP synthase F1 subunit alpha
IEP
protein:increased localization:gastrocnemius (rat)
RGD
PMID:20850499
RGD:13703063
NCBI chr18:73,567,537...73,575,473
Ensembl chr18:73,567,526...73,575,922
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Bax
BCL2 associated X, apoptosis regulator
IEP
mRNA:decreased expression:plantaris
RGD
PMID:17029665
RGD:2325745
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
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Bcl2
BCL2, apoptosis regulator
IEP
mRNA:decreased expression:plantaris
RGD
PMID:17029665
RGD:2325745
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
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Cav1
caveolin 1
severity
ISO
DNA:SNP:intron:14713G>A (rs3807987) (human)
RGD
PMID:24815842
RGD:10045568
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:20022929
RGD:10043356
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
protein:increased expression:thigh muscle (mouse)
RGD
PMID:21982926
RGD:10401269
NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:96,896,171...96,899,309
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Cebpb
CCAAT/enhancer binding protein beta
ISO
mRNA:increased expression:vastus lateralis muscle (human)
RGD
PMID:15687482
RGD:10401226
NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:176,816,859...176,838,072
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Eif2b5
eukaryotic translation initiation factor 2B subunit epsilon
IDA
RGD
PMID:15187001
RGD:10395315
NCBI chr11:93,898,814...93,909,431
Ensembl chr11:93,898,814...93,908,800
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Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
IEP
RGD
PMID:15187001
RGD:10395315
NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:103,405,788...103,431,649
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Fis1
fission, mitochondrial 1
IEP
protein:increased expression:extensor digitorum longus (rat)
RGD
PMID:23220115
RGD:12738219
NCBI chr12:25,345,239...25,360,135
Ensembl chr12:25,345,239...25,349,335
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Foxo4
forkhead box O4
IEP
RGD
PMID:16870627
RGD:10402356
NCBI chr X:70,425,218...70,432,120
Ensembl chr X:70,425,563...70,432,120
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30657865
RGD:14746966
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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Igf1
insulin-like growth factor 1
ISO
RGD
PMID:12919235
RGD:10045859
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
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Il6
interleukin 6
ISO
RGD
PMID:12919235
RGD:10045859
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Mfn2
mitofusin 2
IEP
protein:increased expression:extensor digitorum longus (rat)
RGD
PMID:23220115
RGD:12738219
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495
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Nfkbia
NFKB inhibitor alpha
IEP
protein:increased expression:soleus
RGD
PMID:15665035
RGD:10413861
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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Opa1
OPA1, mitochondrial dynamin like GTPase
IEP
protein:increased expression:extensor digitorum longus (rat)
RGD
PMID:23220115
RGD:12738219
NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955
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Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:altered expression:gastrocnemius muscle (rat)
RGD
PMID:16870628
RGD:10053649
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213
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Supv3l1
Suv3 like RNA helicase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19145458
NCBI chr20:30,921,248...30,941,779
Ensembl chr20:30,921,249...30,941,723
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Kctd1
potassium channel tetramerization domain containing 1
ISO ISS
ClinVar Annotator: match by term: KCTD1-related condition | ClinVar Annotator: match by term: Scalp-ear-nipple syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD MouseDO
PMID:1799422 PMID:8042668 PMID:9383029 PMID:9536098 PMID:10517259 PMID:16411189 PMID:17576681 PMID:23541344 PMID:25741868 PMID:28492532 PMID:31324836 More...
NCBI chr18:6,396,947...6,591,026
Ensembl chr18:6,396,947...6,515,191
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Zfp407
zinc finger protein 407
ISO
ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition
OMIM ClinVar
PMID:24907849 PMID:25741868 PMID:28492532 PMID:32737394
NCBI chr18:79,846,012...80,245,177
Ensembl chr18:79,846,012...80,245,106
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Pou3f3
POU class 3 homeobox 3
ISO
ClinVar Annotator: match by term: Snijders blok-fisher syndrome
OMIM ClinVar
PMID:25741868 PMID:30712878 PMID:31303265 PMID:39825153
NCBI chr 9:52,438,026...52,441,152
Ensembl chr 9:52,435,625...52,454,705
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Muscle spasm
ClinVar
PMID:3490596 PMID:21675912 PMID:22047571 PMID:23001465 PMID:23485543 PMID:24518185 PMID:25194629 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:27394135 PMID:27798933 PMID:28470390 PMID:28492532 PMID:33864587 PMID:34307984 PMID:34858904 PMID:35569070 PMID:35956396 PMID:36703897 PMID:37701149 PMID:38665259 More...
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Muscle spasm
ClinVar
PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:28492532 PMID:34106991 More...
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7192515
NCBI chr 3:67,522,489...67,531,533
Ensembl chr 3:67,522,489...67,531,533
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2444298 PMID:3567346 PMID:5784655 PMID:8680739
NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
onset
ISO
DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) ClinVar Annotator: match by term: Spastic ataxia
ClinVar RGD
PMID:25741868 PMID:22022284
RGD:11532672
NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000
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Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:150,512,037...150,583,144
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Amacr
alpha-methylacyl-CoA racemase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:61,670,475...61,685,379
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Ampd2
adenosine monophosphate deaminase 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:198,395,767...198,408,514
Ensembl chr 2:198,395,768...198,408,796
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Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 PMID:17560502 PMID:19815439 PMID:20339381 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:37480112 More...
NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr13:87,261,964...87,286,911
Ensembl chr13:87,261,968...87,286,911
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr X:156,367,582...156,464,085
Ensembl chr X:156,367,852...156,438,153
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Atp7b
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 PMID:17949296 PMID:23518715 PMID:25741868 PMID:27398169 PMID:28492532 PMID:34240825 PMID:34400371 PMID:34470610 More...
NCBI chr16:76,654,725...76,726,092
Ensembl chr16:76,653,660...76,728,801
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599
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Cacna1g
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,851,896...79,919,634
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Cacnb4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:57,315,900...57,578,220
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Ccdc88c
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:125,899,526...126,018,865
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 PMID:23027964 PMID:25741868 PMID:28492532 PMID:29398085 PMID:37510321 More...
NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955
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Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 8:72,198,773...72,213,777
Ensembl chr 8:72,198,712...72,213,776
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Coq4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 PMID:32718099 PMID:33704555 PMID:34440436 PMID:34445196 PMID:36047608 PMID:38013626 More...
NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:33,457,596...33,468,379
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804
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Dab1
DAB adaptor protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 5:123,621,510...124,742,585
Ensembl chr 5:124,369,415...124,742,584
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Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr13:75,842,078...75,870,319
Ensembl chr13:75,836,565...75,869,904
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119
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Elovl4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532
NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,920,455...2,955,539
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Exosc8
exosome component 8
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:141,080,568...141,087,112
Ensembl chr 2:141,080,568...141,087,229
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Fa2h
fatty acid 2-hydroxylase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623
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Fat2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,864,766...39,956,902
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Flnc
filamin C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240
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Galc
galactosylceramidase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 PMID:32576985 PMID:34445196 More...
NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:123,182,643...123,245,578
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Gjc2
gap junction protein, gamma 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 PMID:34445196 More...
NCBI chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 More...
NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:122,963,718...123,036,326
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Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196
NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712
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Hpdl
4-hydroxyphenylpyruvate dioxygenase-like
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200
NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:34445196
NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:142,743,334...143,066,504
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117
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Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777
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Kif1c
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220
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Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:93,225,509...93,427,650
Ensembl chr17:93,225,540...93,427,650
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886
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Mtpap
mitochondrial poly(A) polymerase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr17:58,015,979...58,036,735
Ensembl chr17:58,015,979...58,036,954
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Naglu
N-acetyl-alpha-glucosaminidase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr10:86,501,864...86,509,333
Ensembl chr10:86,501,836...86,509,315
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Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532
NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685
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Pik3r5
phosphoinositide-3-kinase, regulatory subunit 5
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,631,476...53,699,539
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:21855841 PMID:22855961 PMID:25477152 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29100083 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503 More...
NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060
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Ppt1
palmitoyl-protein thioesterase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 PMID:25741868 PMID:28492532 PMID:28878621 More...
NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200
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Pum1
pumilio RNA-binding family member 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 5:148,120,712...148,238,468
Ensembl chr 5:148,121,254...148,238,466
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419
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Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026
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Sepsecs
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr14:62,524,287...62,554,529
Ensembl chr14:62,524,313...62,554,533
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278
NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740
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Slc1a3
solute carrier family 1 member 3
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:59,482,709...59,557,808
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Slc25a46
solute carrier family 25, member 46
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196
NCBI chr18:23,490,422...23,519,599
Ensembl chr18:23,490,425...23,518,730
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Spast
spastin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 PMID:30476002 PMID:34445196 More...
NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446
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Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32483926 PMID:34445196
NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:129,461,477...129,526,742
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 PMID:32643187 PMID:34445196 More...
NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058
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Syne1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 PMID:28492532 More...
NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:43,895,994...44,388,721
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Syne2
spectrin repeat containing nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666
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Ttbk2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:128,144,851...128,258,738
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:12955714 PMID:15605410 PMID:16353398 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:33046911 PMID:33879153 PMID:34445196 PMID:36225977 PMID:37108562 PMID:37277527 More...
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459
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Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 PMID:39825153 More...
NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137
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Vamp1
vesicle-associated membrane protein 1
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 PMID:39825153 More...
NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608
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Coq4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:30659264 PMID:31325447 PMID:31396399 PMID:31967322 PMID:32718099 PMID:33704555 PMID:34440436 PMID:34445196 PMID:34992632 PMID:35598585 PMID:36047608 PMID:38013626 PMID:38014483 More...
NCBI chr 3:33,457,834...33,468,387
Ensembl chr 3:33,457,596...33,468,379
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Trub2
TruB pseudouridine synthase family member 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36047608
NCBI chr 3:33,447,101...33,457,712
Ensembl chr 3:33,431,628...33,457,726
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C10h17orf107
similar to human chromosome 17 open reading frame 107
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,830,684...55,831,827
G
Camta2
calmodulin binding transcription activator 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,882,071...55,900,575
Ensembl chr10:55,882,071...55,900,179
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Chrne
cholinergic receptor nicotinic epsilon subunit
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,829,835...55,838,853
Ensembl chr10:55,829,836...55,834,154
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Eno3
enolase 3
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,868,880...55,876,099
Ensembl chr10:55,866,101...55,874,540
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560
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Inca1
inhibitor of CDK, cyclin A1 interacting protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,900,610...55,912,975
Ensembl chr10:55,900,610...55,912,698
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Kif1c
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Spastic ataxia 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9535554 PMID:9536098 PMID:14594949 PMID:16199547 PMID:17273843 PMID:17576681 PMID:19150977 PMID:24319291 PMID:24482476 PMID:24793961 PMID:24808017 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28687974 PMID:28832565 PMID:29482223 PMID:30067756 PMID:32501971 PMID:34946966 PMID:35961316 PMID:39825153 More...
NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220
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Pfn1
profilin 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,863,881...55,868,611
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Rnf167
ring finger protein 167
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,859,254...55,863,546
Ensembl chr10:55,859,297...55,863,905
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Slc25a11
solute carrier family 25 member 11
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,855,979...55,859,060
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Spag7
sperm associated antigen 7
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,875,868...55,882,025
Ensembl chr10:55,875,868...55,882,025
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Mars2
methionyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic ataxia 3
OMIM CTD ClinVar
PMID:22448145 PMID:25741868 PMID:28492532
NCBI chr 9:64,214,935...64,228,408
Ensembl chr 9:64,215,128...64,338,443
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Autosomal recessive spastic ataxia
ClinVar
PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 PMID:25741868 More...
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419
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Mtpap
mitochondrial poly(A) polymerase
ISO
ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4
OMIM ClinVar
PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 PMID:26467025 PMID:28492532 PMID:31779033 More...
NCBI chr17:58,015,979...58,036,735
Ensembl chr17:58,015,979...58,036,954
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 5
OMIM ClinVar
PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 PMID:27165006 PMID:28449981 PMID:28454995 PMID:28492532 PMID:29482223 PMID:30910913 PMID:31111429 PMID:31327635 PMID:31589614 PMID:32219868 PMID:32237276 PMID:32248051 PMID:32600459 PMID:33841295 PMID:34333379 PMID:34418069 PMID:34445196 PMID:35869996 PMID:37332640 PMID:37804316 More...
NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000
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Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Spastic ataxia 5
ClinVar
PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532
NCBI chr18:63,213,287...63,222,926
Ensembl chr18:63,213,279...63,224,303
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Nkx6-2
NK6 homeobox 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 PMID:30285346 PMID:31509304 PMID:32004679 PMID:32860008 PMID:39825153 More...
NCBI chr 1:203,811,582...203,813,122
Ensembl chr 1:203,811,582...203,813,122
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Chp1
calcineurin-like EF-hand protein 1
ISO
OMIM
NCBI chr 3:126,989,800...127,025,071
Ensembl chr 3:126,989,579...127,042,443
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Sod1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive
OMIM ClinVar
PMID:1259395 PMID:2517465 PMID:7673954 PMID:7881433 PMID:7997024 PMID:8069312 PMID:8446170 PMID:8528216 PMID:8572658 PMID:10400992 PMID:10593307 PMID:10732812 PMID:12165567 PMID:12358759 PMID:15050437 PMID:15056757 PMID:15208263 PMID:15258228 PMID:16291929 PMID:16423367 PMID:16945901 PMID:17394531 PMID:17543992 PMID:18301754 PMID:19259395 PMID:19483195 PMID:20075587 PMID:20184521 PMID:20472325 PMID:21549128 PMID:23280792 PMID:23286750 PMID:23726301 PMID:23773010 PMID:23873540 PMID:24439480 PMID:25741868 PMID:26362407 PMID:26467025 PMID:28089114 PMID:28105640 PMID:28291249 PMID:28430856 PMID:28492532 PMID:29982983 PMID:30637102 PMID:31314961 PMID:31332433 PMID:32789025 PMID:34721532 PMID:39825153 More...
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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Atox1
antioxidant 1 copper chaperone
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:40,065,525...40,080,627
Ensembl chr10:40,065,527...40,080,585
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Stiff-man syndrome, congenital
ClinVar
PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Fat2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,864,766...39,956,902
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G3bp1
G3BP stress granule assembly factor 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:40,087,533...40,120,931
Ensembl chr10:40,087,533...40,120,931
G
Glra1
glycine receptor, alpha 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital
CTD ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8651283 PMID:8733061 PMID:9009272 PMID:9536098 PMID:9927632 PMID:10514101 PMID:10817489 PMID:11389164 PMID:11702206 PMID:11781706 PMID:12169101 PMID:12746425 PMID:14673895 PMID:15365143 PMID:15771552 PMID:16078201 PMID:16199547 PMID:16236274 PMID:16941485 PMID:17534957 PMID:17536053 PMID:17576681 PMID:18175347 PMID:19073849 PMID:19732286 PMID:20631190 PMID:22532536 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25356525 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28122427 PMID:28138086 PMID:28174298 PMID:28348128 PMID:28492532 PMID:28617419 PMID:28985719 PMID:30078784 PMID:30109271 PMID:30182260 PMID:30866851 PMID:32319239 PMID:32332682 PMID:32695065 PMID:36434917 More...
NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815
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Glrb
glycine receptor, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614
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Gm2a
ganglioside GM2 activator
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,719,938...39,732,451
G
Gphn
gephyrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stiff-person syndrome, congenital
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674
G
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
RGD
PMID:12225901
RGD:10411898
NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467
G
Lama2
laminin subunit alpha 2
ISO
ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar
PMID:24225367 PMID:25741868 PMID:28492532
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056
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Slc36a1
solute carrier family 36 member 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,825,023...39,858,066
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Slc36a2
solute carrier family 36 member 2
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,778,693...39,806,773
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Slc36a3
solute carrier family 36, member 3
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,744,290...39,771,261
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Slc6a5
solute carrier family 6 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25480793
NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165
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Sparc
secreted protein acidic and cysteine rich
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268
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Trak1
trafficking kinesin protein 1
ISS
OMIM:184850
MouseDO
NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:129,861,977...130,016,870
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Aff2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868
NCBI chr X:152,972,579...153,477,080
Ensembl chr X:152,972,581...153,477,080
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Camta1
calmodulin binding transcription activator 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868
NCBI chr 5:166,791,639...167,639,502
Ensembl chr 5:166,793,101...167,639,733
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Huwe1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 PMID:19377476 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25741869 PMID:25985138 PMID:27130160 PMID:27884935 PMID:28492532 PMID:29118367 PMID:29180823 PMID:29758562 PMID:30797980 PMID:31130284 PMID:33710394 PMID:35887114 PMID:35937685 PMID:35982159 PMID:39039281 PMID:39825153 More...
NCBI chr X:24,350,708...24,480,798
Ensembl chr X:24,353,217...24,480,798
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Ski
Ski proto-oncogene
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957
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Akap5
A-kinase anchoring protein 5
IEP
mRNA:increased expression:dentate gyrus (rat)
RGD
PMID:12542670
RGD:2313247
NCBI chr 6:100,787,169...100,796,712
Ensembl chr 6:100,790,148...100,796,620
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Cnnm2
cyclin and CBS domain divalent metal cation transport mediator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23027747
NCBI chr 1:255,585,063...255,709,455
Ensembl chr 1:255,585,095...255,704,849
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Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27585885
NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418
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Shh
sonic hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27585885
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901
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Cul7
cullin 7
ISO
ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition | ClinVar Annotator: match by term: Three M syndrome 1
OMIM ClinVar
PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 PMID:22325252 PMID:23018678 PMID:23900270 PMID:24793695 PMID:24793696 PMID:25741868 PMID:28492532 PMID:28969986 PMID:30980518 PMID:31343991 PMID:31589614 PMID:34006472 More...
NCBI chr 9:21,816,703...21,830,344
Ensembl chr 9:21,816,703...21,830,344
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: 3M syndrome 1
ClinVar
PMID:30980518
NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: Three M syndrome 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 PMID:25741868 PMID:25923536 PMID:26627873 PMID:27545679 PMID:27796265 PMID:27959697 PMID:28492532 PMID:28969986 PMID:30980518 PMID:33135300 PMID:33726816 PMID:33919104 PMID:36999085 PMID:37520055 More...
NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415
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Ccdc8
coiled-coil domain containing 8
ISO
ClinVar Annotator: match by term: 3M syndrome 3 | ClinVar Annotator: match by term: CCDC8-related condition
OMIM ClinVar
PMID:21737058 PMID:22325252 PMID:23018678 PMID:25741868 PMID:28492532 PMID:28675896 More...
NCBI chr 1:86,807,607...86,810,935
Ensembl chr 1:86,806,942...86,814,204
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7378868
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760
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Ap1g1
adaptor related protein complex 1 subunit gamma 1
ISO
ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:34102099
NCBI chr19:54,654,101...54,740,586
Ensembl chr19:54,620,807...54,740,586
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Ap1g1
adaptor related protein complex 1 subunit gamma 1
ISO
ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:34102099
NCBI chr19:54,654,101...54,740,586
Ensembl chr19:54,620,807...54,740,586
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Arnt2
aryl hydrocarbon receptor nuclear translocator 2
ISO
ClinVar Annotator: match by term: ARNT2-related condition | ClinVar Annotator: match by term: Webb-Dattani syndrome
OMIM ClinVar
PMID:24022475 PMID:25741868 PMID:28492532
NCBI chr 1:147,645,354...147,801,986
Ensembl chr 1:147,599,058...147,801,997
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Ddb1
damage-specific DNA binding protein 1
ISO
ClinVar Annotator: match by term: White-Kernohan syndrome
OMIM ClinVar
PMID:25741868 PMID:33743206
NCBI chr 1:216,677,810...216,703,605
Ensembl chr 1:216,677,810...216,703,596
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 PMID:38703036 PMID:39032379 More...
NCBI chr X:64,525,725...64,556,037
Ensembl chr X:64,535,241...64,556,042
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16
ClinVar
PMID:2563148 PMID:25741868 PMID:26235985
NCBI chr X:12,152,346...12,165,983
Ensembl chr X:12,152,346...12,165,983
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:23,466,791...23,509,773
Ensembl chr X:23,467,530...23,509,979
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:24,821,568...24,866,423
Ensembl chr X:24,824,859...24,866,423
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome
OMIM ClinVar
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 PMID:4413922 PMID:8177735 PMID:8589686 PMID:9038338 PMID:9377804 PMID:9536098 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10777366 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11227330 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11807877 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12552569 PMID:12566531 PMID:12567420 PMID:12615169 PMID:12673788 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12884430 PMID:12966523 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:15057977 PMID:15173251 PMID:15211631 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15558314 PMID:15578581 PMID:15689435 PMID:15718369 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16080119 PMID:16122633 PMID:16169931 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16672765 PMID:16690727 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:16966553 PMID:17084570 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17171659 PMID:17236109 PMID:17267601 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17440498 PMID:17551081 PMID:17576681 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18678449 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20207612 PMID:20231667 PMID:20301670 PMID:20425814 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21764336 PMID:21831886 PMID:21878110 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22670143 PMID:22679399 PMID:22923521 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:23958653 PMID:24033266 PMID:24321989 PMID:24328834 PMID:24399845 PMID:24453408 PMID:24458799 PMID:24508304 PMID:24511209 PMID:24526180 PMID:24621584 PMID:24715477 PMID:24743294 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25326635 PMID:25473036 PMID:25614871 PMID:25634563 PMID:25741868 PMID:26175308 PMID:26228846 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26842955 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27353517 PMID:27354166 PMID:27442528 PMID:27465203 PMID:27799067 PMID:27929079 PMID:28250423 PMID:28351539 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28544139 PMID:28785396 PMID:28831199 PMID:29046627 PMID:29482495 PMID:29655203 PMID:29718204 PMID:29720203 PMID:29758562 PMID:29961512 PMID:30081849 PMID:30083362 PMID:30536762 PMID:30573328 PMID:30673959 PMID:30945278 PMID:31138832 PMID:31535341 PMID:31816669 PMID:31958484 PMID:32214227 PMID:32340510 PMID:32393352 PMID:32472557 PMID:32477112 PMID:32581362 PMID:32746448 PMID:32860008 PMID:32901917 PMID:33452270 PMID:34271245 PMID:34324427 PMID:34426522 PMID:34619114 PMID:34837432 PMID:35606502 PMID:36430969 PMID:36672771 PMID:38177409 More...
NCBI chr X:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
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