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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Muscle Hypotonia
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Accession:DOID:9005603 term browser browse the term
Definition:A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Synonyms:exact_synonym: Decreased Muscle Tone;   Flaccid Muscle Tone;   Floppy Muscle;   Floppy Muscles;   Hypomyotonia;   Hypotonia;   Hypotonias, Unilateral;   Muscle Flaccidity;   Muscle Hypotony;   Muscle Tone Atonic;   Muscle Tone Atonics;   Muscle Tone Poor;   Muscular Flaccidities;   Muscular Flaccidity;   Muscular Hypotonia;   Neonatal Hypotonia;   Neonatal Hypotonias
 narrow_synonym: FACIAL HYPOTONIA;   GENERALIZED HYPOTONIA;   Unilateral Hypotonia
 primary_id: MESH:D009123

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Muscle Hypotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chrNW_004624824:6,112,644...6,202,936
Ensembl chrNW_004624824:6,141,213...6,202,936 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004624766:9,018,616...9,092,365
Ensembl chrNW_004624766:9,018,721...9,092,287 		JBrowse link
G Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chrNW_004624764:11,416,674...11,482,622
Ensembl chrNW_004624764:11,416,674...11,482,601 		JBrowse link
G Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624830:2,624,071...2,649,265
Ensembl chrNW_004624830:2,624,310...2,649,099 		JBrowse link
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Muscular hypotonia
ClinVar Annotator: match by term: poor muscle tone 		ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chrNW_004624803:3,826,205...3,908,718 JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chrNW_004624747:28,086,967...28,136,514
Ensembl chrNW_004624747:28,088,544...28,131,907 		JBrowse link
G Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624744:24,010,609...24,144,474
Ensembl chrNW_004624744:24,011,136...24,143,202 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:32581362 NCBI chrNW_004624779:8,099,434...8,270,812
Ensembl chrNW_004624779:8,144,474...8,271,269 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663 		JBrowse link
G Chd1 chromodomain helicase DNA binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624743:17,311,167...17,380,458 JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chrNW_004624804:7,769,254...7,771,368
Ensembl chrNW_004624804:7,769,478...7,770,602 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:8364588 PMID:25741868 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO Associated with Down syndrome; DNA:SNP:CDS:rs2270669 (human) RGD PMID:23626599 RGD:401851041 NCBI chrNW_004624847:2,786,560...2,863,800
Ensembl chrNW_004624847:2,787,319...2,863,853 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chrNW_004624934:1,239,849...1,271,993
Ensembl chrNW_004624934:1,250,956...1,271,983 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624744:24,145,480...24,286,931
Ensembl chrNW_004624744:24,146,096...24,287,002 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Generalized hypotonia
ClinVar Annotator: match by term: Neonatal hypotonia 		ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO RGD PMID:11230174 RGD:734884 NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834 		JBrowse link
G Dmap1 DNA methyltransferase 1 associated protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chrNW_004624906:109,233...117,571
Ensembl chrNW_004624906:109,065...117,571 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chrNW_004624737:17,069,676...17,201,481
Ensembl chrNW_004624737:17,078,683...17,201,536 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:22544365 PMID:23564332 PMID:23883322 PMID:23975261 PMID:24524299 More... NCBI chrNW_004624930:1,393,087...1,403,483
Ensembl chrNW_004624930:1,393,087...1,398,347 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25558065 PMID:27311568 NCBI chrNW_004624860:1,592,889...1,627,298
Ensembl chrNW_004624860:1,593,318...1,625,422 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chrNW_004624739:770,775...791,251
Ensembl chrNW_004624739:770,808...781,949 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chrNW_004624746:6,070,680...6,126,949
Ensembl chrNW_004624746:6,081,033...6,126,858 		JBrowse link
G Glrb glycine receptor beta ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624848:1,301,051...1,383,931
Ensembl chrNW_004624848:1,298,174...1,384,513 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		JBrowse link
G Heatr4 HEAT repeat containing 4 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chrNW_004624734:27,936,806...27,973,366 JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chrNW_004624809:7,538,568...7,548,272 JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 More... NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 NCBI chrNW_004624790:5,901,809...6,007,847
Ensembl chrNW_004624790:5,902,077...6,003,591 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:28492532 NCBI chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624753:3,194,678...3,794,145
Ensembl chrNW_004624753:3,336,227...3,793,940 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chrNW_004624755:25,604,636...25,631,974
Ensembl chrNW_004624755:25,604,454...25,631,716 		JBrowse link
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chrNW_004624749:4,155,827...4,163,648
Ensembl chrNW_004624749:4,155,943...4,163,642 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624866:1,003,279...1,162,545
Ensembl chrNW_004624866:1,105,616...1,162,288 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chrNW_004624749:4,166,358...4,185,980
Ensembl chrNW_004624749:4,172,007...4,185,890 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892 NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624808:11,174,966...11,196,288 JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chrNW_004624923:952,782...1,062,391 JBrowse link
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:27058446 PMID:32581362 NCBI chrNW_004624785:13,208,518...13,885,261
Ensembl chrNW_004624785:13,497,495...13,880,345 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:32467598 NCBI chrNW_004624817:4,269,422...4,367,576
Ensembl chrNW_004624817:4,269,347...4,369,486 		JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chrNW_004624770:18,835,706...19,157,177
Ensembl chrNW_004624770:18,836,899...19,157,114 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chrNW_004624906:2,120,759...2,131,024
Ensembl chrNW_004624906:2,119,684...2,135,656 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 More... NCBI chrNW_004624743:32,878,677...32,888,650
Ensembl chrNW_004624743:32,884,552...32,885,517 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:32004447 NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chrNW_004624763:19,362,793...19,391,401
Ensembl chrNW_004624763:19,362,663...19,391,443 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:16199547 PMID:16835904 PMID:23919265 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624731:11,403,936...11,486,244
Ensembl chrNW_004624731:11,403,675...11,484,982 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624836:6,454,988...6,670,980
Ensembl chrNW_004624836:6,455,190...6,668,643 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Unilateral Hypotonia ClinVar PMID:25741868 PMID:33299146 NCBI chrNW_004624741:11,218,259...11,303,406
Ensembl chrNW_004624741:11,274,490...11,302,813 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:19020799 PMID:19953625 PMID:21387466 PMID:21784453 PMID:23487764 More... NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chrNW_004624752:14,986,146...15,382,687
Ensembl chrNW_004624752:14,985,942...15,378,465 		JBrowse link
G Sp9 Sp9 transcription factor ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar PMID:25741868 PMID:38288683 NCBI chrNW_004624787:11,576,707...11,579,871
Ensembl chrNW_004624787:11,576,717...11,579,977 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:35170016 PMID:35460704 NCBI chrNW_004624761:14,087,772...14,104,348
Ensembl chrNW_004624761:14,089,900...14,104,408 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484 		JBrowse link
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 PMID:35321494 NCBI chrNW_004624943:26,241...88,233
Ensembl chrNW_004624943:26,409...72,206 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chrNW_004624732:4,043,867...4,052,621
Ensembl chrNW_004624732:4,043,867...4,052,551 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chrNW_004624752:6,446,414...6,537,238 JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chrNW_004624754:24,198,979...24,253,185 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chrNW_004624906:2,108,324...2,118,571
Ensembl chrNW_004624906:2,113,726...2,119,505 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chrNW_004624844:484,593...760,155 JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Facial hypotonia ClinVar PMID:25741868 NCBI chrNW_004624784:14,729,762...14,755,982
Ensembl chrNW_004624784:14,729,770...14,754,991 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chrNW_004624824:6,277,111...6,338,051
Ensembl chrNW_004624824:6,276,354...6,338,227 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:30275004 NCBI chrNW_004624754:24,430,500...24,442,181
Ensembl chrNW_004624754:24,430,920...24,442,110 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 More... NCBI chrNW_004624740:14,960,105...14,995,522
Ensembl chrNW_004624740:14,959,089...14,995,548 		JBrowse link
3-M syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome ClinVar PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21396581 More... NCBI chrNW_004624754:16,454,304...16,472,721
Ensembl chrNW_004624754:16,459,134...16,472,675 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar PMID:25741868 NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More... NCBI chrNW_004624812:456,758...499,262
Ensembl chrNW_004624812:456,812...500,015 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624740:16,883,725...16,887,678
Ensembl chrNW_004624740:16,883,828...16,887,685 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32017898 More... NCBI chrNW_004624838:6,331,393...6,426,151
Ensembl chrNW_004624838:6,413,494...6,425,939 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chrNW_004624740:16,877,535...16,883,742
Ensembl chrNW_004624740:16,877,619...16,883,742 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy | ClinVar Annotator: match by term: SLC16A2-related condition OMIM
ClinVar		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chrNW_004624836:6,454,988...6,670,980
Ensembl chrNW_004624836:6,455,190...6,668,643 		JBrowse link
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition OMIM
ClinVar		 PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914 NCBI chrNW_004624751:21,812,567...21,817,837
Ensembl chrNW_004624751:21,812,850...21,814,747 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chrNW_004624809:7,538,568...7,548,272 JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:16,810,123...17,120,758
Ensembl chrNW_004624747:16,810,076...17,118,088 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Okamoto syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
autosomal recessive intellectual developmental disorder 73 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa20 N-alpha-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624741:20,549,362...20,563,514
Ensembl chrNW_004624741:20,549,289...20,563,518 		JBrowse link
Birk-Barel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome | ClinVar Annotator: match by term: KCNK9-related condition OMIM
ClinVar		 PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chrNW_004624735:16,683,099...16,744,648
Ensembl chrNW_004624735:16,683,004...16,754,158 		JBrowse link
G Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chrNW_004624736:1,972,654...2,516,053
Ensembl chrNW_004624736:1,660,831...2,514,430 		JBrowse link
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbl2 RB transcriptional corepressor like 2 ISO ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome | ClinVar Annotator: match by term: RBL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32105419 NCBI chrNW_004624757:3,295,471...3,351,539
Ensembl chrNW_004624757:3,295,479...3,351,928 		JBrowse link
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:28492532 PMID:31448845 NCBI chrNW_004624760:6,002,032...6,013,489
Ensembl chrNW_004624760:6,002,568...6,013,491 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,416,669...7,445,418
Ensembl chrNW_004624763:7,416,669...7,445,411 		JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,726,883...19,769,247
Ensembl chrNW_004624763:19,726,841...19,769,372 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,643,980...19,667,125
Ensembl chrNW_004624763:19,643,980...19,667,125 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,801,144...19,838,313
Ensembl chrNW_004624763:19,801,172...19,835,724 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,917,199...19,925,824
Ensembl chrNW_004624763:19,917,169...19,925,896 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,955,368...19,980,480
Ensembl chrNW_004624763:19,955,408...19,980,620 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:20,588,635...20,602,124
Ensembl chrNW_004624763:20,589,668...20,601,641 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:20,618,515...20,680,790
Ensembl chrNW_004624763:20,620,380...20,680,782 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,861,837...19,888,626 JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:18,784,815...18,916,358
Ensembl chrNW_004624763:18,784,187...18,916,358 		JBrowse link
G Kcns2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004624763:5,544,102...5,550,595
Ensembl chrNW_004624763:5,544,104...5,546,691 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,582,019...19,592,447
Ensembl chrNW_004624763:19,581,730...19,587,730 		JBrowse link
G LOC101716380 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:6,867,602...6,877,864
Ensembl chrNW_004624763:6,850,621...6,877,822 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:20,689,236...20,764,290
Ensembl chrNW_004624763:20,689,239...20,764,310 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:18,918,781...19,191,221
Ensembl chrNW_004624763:18,920,207...19,084,875 		JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:5,334,722...5,433,062
Ensembl chrNW_004624763:5,332,593...5,433,032 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,554,944...19,560,473
Ensembl chrNW_004624763:19,555,101...19,560,333 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004624763:6,035,923...6,043,682
Ensembl chrNW_004624763:6,035,953...6,043,437 		JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,552,541...7,568,047
Ensembl chrNW_004624763:7,550,307...7,567,918 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,068,000...7,071,752
Ensembl chrNW_004624763:7,068,012...7,071,799 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:5,264,003...5,299,000
Ensembl chrNW_004624763:5,269,847...5,300,723 		JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:6,922,059...7,059,827
Ensembl chrNW_004624763:6,923,087...7,037,726
Ensembl chrNW_004624763:6,923,087...7,037,726 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:20,027,601...20,567,288
Ensembl chrNW_004624763:20,027,574...20,567,688 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,153,382...7,209,622
Ensembl chrNW_004624763:7,152,396...7,209,652 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,362,793...19,391,401
Ensembl chrNW_004624763:19,362,663...19,391,443 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,934,120...19,955,317
Ensembl chrNW_004624763:19,933,107...19,955,040 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,455,924...7,515,120
Ensembl chrNW_004624763:7,455,924...7,515,155 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624763:7,074,468...7,141,388
Ensembl chrNW_004624763:7,082,692...7,140,453 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004624763:5,568,079...5,886,722
Ensembl chrNW_004624763:5,564,835...5,886,769 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:19,414,582...19,530,539
Ensembl chrNW_004624763:19,414,549...19,530,517 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chrNW_004624763:6,101,943...6,866,457
Ensembl chrNW_004624763:6,102,674...6,864,817 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,722,275...7,723,482 JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004624763:7,934,894...7,942,900
Ensembl chrNW_004624763:7,936,268...7,941,014 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chrNW_004624802:10,134,518...10,154,274
Ensembl chrNW_004624802:10,134,556...10,154,324 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chrNW_004624802:10,154,581...10,165,614
Ensembl chrNW_004624802:10,153,124...10,165,614 		JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: 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 chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chrNW_004624756:23,060,065...23,062,407
Ensembl chrNW_004624756:23,060,751...23,062,343 		JBrowse link
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384 		JBrowse link
DeSanto-Shinawi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chrNW_004624805:6,813,100...6,898,686 JBrowse link
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities | ClinVar Annotator: match by term: GOLGA2-related condition OMIM
ClinVar		 PMID:25741868 PMID:30237576 PMID:34424553 NCBI chrNW_004624760:6,588,351...6,605,518 JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:30510140 More... NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336 		JBrowse link
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities OMIM
ClinVar		 PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chrNW_004624782:13,818,019...13,862,379
Ensembl chrNW_004624782:13,817,999...13,862,046 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:31412107 NCBI chrNW_004624761:15,387,217...15,389,404
Ensembl chrNW_004624761:15,387,674...15,389,229 		JBrowse link
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc7 anaphase promoting complex subunit 7 ISO ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:34942119 NCBI chrNW_004624747:21,473,337...21,501,348
Ensembl chrNW_004624747:21,473,352...21,499,843 		JBrowse link
FG syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: FG syndrome ClinVar PMID:25741868 NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Med12 mediator complex subunit 12 ISO 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 ClinVar PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNHXorf65 chromosome unknown CXorf65 homolog ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,400,238...1,402,502 JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,390,899...1,399,745
Ensembl chrNW_004624903:1,391,910...1,399,949 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,511,347...1,519,265
Ensembl chrNW_004624903:1,517,324...1,519,265 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,402,586...1,406,554
Ensembl chrNW_004624903:1,402,481...1,406,600 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,583,796...1,588,778
Ensembl chrNW_004624903:1,584,519...1,588,617 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More... NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,437,663...1,465,955
Ensembl chrNW_004624903:1,438,428...1,463,172 		JBrowse link
G Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,100,518...1,106,993
Ensembl chrNW_004624903:1,100,424...1,107,087 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,357,298...1,366,849
Ensembl chrNW_004624903:1,118,965...1,367,179 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,698,201...1,774,607 JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,532,324...1,548,784 JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844 		JBrowse link
fumarase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004624771:11,981,078...11,987,379 JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004624771:12,215,957...12,230,908 JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency OMIM
ClinVar		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004624771:11,900,020...11,942,943
Ensembl chrNW_004624771:11,899,624...11,942,806 		JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004624771:11,943,894...11,991,477
Ensembl chrNW_004624771:11,943,914...11,991,411 		JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004624771:16,745,575...17,109,614
Ensembl chrNW_004624771:16,745,555...17,102,752 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004624771:11,997,750...12,149,360
Ensembl chrNW_004624771:11,997,669...12,149,454 		JBrowse link
glycogen storage disease IXA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:3,785,682...3,916,595
Ensembl chrNW_004624829:3,787,207...3,867,846 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,749,176...4,809,482
Ensembl chrNW_004624829:4,749,057...4,809,582 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:3,014,231...3,082,360 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:3,288,239...3,479,620
Ensembl chrNW_004624829:3,356,580...3,472,832 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,954,390...4,972,934
Ensembl chrNW_004624829:4,957,809...4,973,220 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,169,679...4,318,966
Ensembl chrNW_004624829:4,169,717...4,318,578 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,821,828...4,948,202
Ensembl chrNW_004624829:4,825,277...4,884,460 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:2,185,410...2,520,869
Ensembl chrNW_004624829:2,186,048...2,517,372 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,154,143...4,170,726
Ensembl chrNW_004624829:4,154,066...4,169,670 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO 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 OMIM
ClinVar		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:8733133 More... NCBI chrNW_004624829:3,714,700...3,781,949
Ensembl chrNW_004624829:3,714,284...3,782,080 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:3,520,439...3,666,568
Ensembl chrNW_004624829:3,537,840...3,666,725 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:2,568,865...2,634,268
Ensembl chrNW_004624829:2,568,763...2,633,780 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,978,181...5,087,493
Ensembl chrNW_004624829:4,983,282...5,087,485 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:3,485,635...3,498,431
Ensembl chrNW_004624829:3,485,708...3,518,447 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:2,521,983...2,534,309 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:3,095,925...3,175,062 JBrowse link
G Sh3kbp1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004624829:4,329,959...4,714,329
Ensembl chrNW_004624829:4,329,824...4,714,298 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:1,731,541...1,806,400
Ensembl chrNW_004624914:1,732,060...1,795,027 		JBrowse link
G CUNH16orf87 chromosome unknown C16orf87 homolog ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:283,143...310,253 JBrowse link
G Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:518,593...534,527
Ensembl chrNW_004624914:517,961...534,512 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:460,240...501,087
Ensembl chrNW_004624914:459,701...501,765 		JBrowse link
G Itfg1 integrin alpha FG-GAP repeat containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:721,206...1,013,734
Ensembl chrNW_004624914:720,601...1,013,739 		JBrowse link
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:200,914...251,699
Ensembl chrNW_004624914:198,803...239,427 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:636,348...690,708
Ensembl chrNW_004624914:636,417...690,694 		JBrowse link
G Phkb phosphorylase kinase regulatory subunit beta ISO 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
ClinVar		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chrNW_004624914:1,013,828...1,235,023
Ensembl chrNW_004624914:1,013,145...1,234,610 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004624914:160,483...188,534
Ensembl chrNW_004624914:160,483...188,490 		JBrowse link
glycogen storage disease IXC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc OMIM
ClinVar		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chrNW_004624782:13,864,002...13,880,568
Ensembl chrNW_004624782:13,871,130...13,881,001 		JBrowse link
glycogen storage disease IXD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition OMIM
ClinVar		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chrNW_004624903:2,859,252...3,068,516
Ensembl chrNW_004624903:2,857,378...3,068,534 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chrNW_004624829:3,714,700...3,781,949
Ensembl chrNW_004624829:3,714,284...3,782,080 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH18orf32 chromosome unknown C18orf32 homolog ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 OMIM
ClinVar		 PMID:28492532 PMID:35107634 NCBI chrNW_004624778:12,997,851...13,002,437
Ensembl chrNW_004624778:12,997,850...13,002,334 		JBrowse link
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | ClinVar Annotator: match by term: IARS1-related condition OMIM
ClinVar		 PMID:24706940 PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 NCBI chrNW_004624868:4,062,938...4,168,712
Ensembl chrNW_004624868:4,063,002...4,168,715 		JBrowse link
hypotonia, ataxia, and delayed development syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome OMIM
ClinVar		 PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 More... NCBI chrNW_004624737:17,069,676...17,201,481
Ensembl chrNW_004624737:17,078,683...17,201,536 		JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: CTBP1-related condition | ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar		 PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29758562 More... NCBI chrNW_004624755:25,998,524...26,021,223
Ensembl chrNW_004624755:25,999,713...26,021,331 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407 		CTD
MouseDO		 PMID:26247364 NCBI chrNW_004624738:25,835,123...26,251,254
Ensembl chrNW_004624738:25,835,163...26,250,729 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,657,084...25,738,913
Ensembl chrNW_004624738:25,656,755...25,723,236 		JBrowse link
G Prepl prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: CCDC174-related condition | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26358778 PMID:28492532 NCBI chrNW_004624872:1,176,317...1,193,344
Ensembl chrNW_004624872:1,176,568...1,193,192 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:25741868 NCBI chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 More... NCBI chrNW_004624765:6,223,853...6,443,564
Ensembl chrNW_004624765:6,226,240...6,443,142 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... NCBI chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 ClinVar PMID:25741868 NCBI chrNW_004624765:6,223,853...6,443,564
Ensembl chrNW_004624765:6,226,240...6,443,142 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624765:6,223,853...6,443,564
Ensembl chrNW_004624765:6,226,240...6,443,142 		JBrowse link
infantile hypotonia with psychomotor retardation and characteristic facies-3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chrNW_004624830:2,649,370...2,870,215
Ensembl chrNW_004624830:2,655,632...2,853,264 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: 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 chrNW_004624776:12,114,277...12,324,481
Ensembl chrNW_004624776:12,157,892...12,325,081 		JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar		 PMID:25741868 PMID:34314705 NCBI chrNW_004624901:334,277...351,653
Ensembl chrNW_004624901:334,154...352,060 		JBrowse link
intellectual disability and myopathy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome OMIM
ClinVar		 PMID:9536098 PMID:15034580 PMID:16199547 PMID:17576681 PMID:23861362 More... NCBI chrNW_004624752:16,792,202...16,926,552
Ensembl chrNW_004624752:16,792,165...16,927,293 		JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome 10 ClinVar PMID:25741868 NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10 OMIM
ClinVar		 PMID:12595504 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 More... NCBI chrNW_004624882:376,447...417,066
Ensembl chrNW_004624882:376,556...416,509 		JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: Joubert syndrome 3 OMIM
ClinVar		 PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 More... NCBI chrNW_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364 		JBrowse link
G LOC101721563 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chrNW_004624744:26,791,829...26,999,584
Ensembl chrNW_004624744:26,792,890...26,991,425 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 5 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 More... NCBI chrNW_004624774:13,236,306...13,335,412 JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,038,076...9,081,650
Ensembl chrNW_004624792:9,040,999...9,082,154 		JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,448,245...8,680,845
Ensembl chrNW_004624792:8,448,013...8,681,053 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160 		JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:7,916,354...8,012,976
Ensembl chrNW_004624792:7,916,395...8,014,167 		JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,679,310...9,712,474
Ensembl chrNW_004624792:9,679,211...9,712,970 		JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,326,061...9,344,870
Ensembl chrNW_004624792:9,326,066...9,343,959 		JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,388,994...9,406,618
Ensembl chrNW_004624792:9,391,297...9,406,424 		JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,196,932...9,220,147
Ensembl chrNW_004624792:9,198,657...9,221,264 		JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,730,223...9,794,673 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:9,098,291...9,128,931 JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chrNW_004624792:8,239,931...8,298,508 JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527 		JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:608,065...637,096
Ensembl chrNW_004624829:608,065...634,479 		JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:104,065...122,955
Ensembl chrNW_004624829:103,969...123,033 		JBrowse link
G Asb9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:63,524...86,042
Ensembl chrNW_004624829:63,605...78,016 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:297,187...344,555
Ensembl chrNW_004624829:297,351...344,164 		JBrowse link
G Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:455,731...572,603
Ensembl chrNW_004624829:457,244...571,168 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:412,797...447,076
Ensembl chrNW_004624829:412,532...446,938 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624944:358,836...383,161
Ensembl chrNW_004624944:364,563...383,098 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624944:314,787...358,570
Ensembl chrNW_004624944:314,638...359,085 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chrNW_004624829:128,161...143,378
Ensembl chrNW_004624829:128,586...142,150 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:181,918...286,348
Ensembl chrNW_004624829:180,129...286,429 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:148,371...181,742
Ensembl chrNW_004624829:148,317...181,098 		JBrowse link
G Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chrNW_004624829:578,380...605,119
Ensembl chrNW_004624829:578,326...604,594 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624913:1,380,178...1,397,399
Ensembl chrNW_004624913:1,383,624...1,397,396 		JBrowse link
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: PHRINL SYNDROME ClinVar PMID:25741868 PMID:26467025 PMID:26648449 PMID:28492532 PMID:29596542 More... NCBI chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM
ClinVar		 PMID:25741868 PMID:30607023 PMID:31363758 NCBI chrNW_004624892:2,041,763...2,046,440
Ensembl chrNW_004624892:2,042,071...2,046,026 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia OMIM
ClinVar		 PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 PMID:39825153 NCBI chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia ClinVar PMID:25741868 NCBI chrNW_004624863:442,465...609,159
Ensembl chrNW_004624863:439,541...525,918 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: HDAC4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM
ClinVar		 PMID:10958686 PMID:11486037 PMID:25741868 PMID:28492532 PMID:33537682 NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:29302074 PMID:32761064 NCBI chrNW_004624767:1,421,603...1,459,738
Ensembl chrNW_004624767:1,421,603...1,459,507 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | ClinVar Annotator: match by term: VAMP2-related condition OMIM
ClinVar		 PMID:11691998 PMID:15475946 PMID:25741868 PMID:30144509 PMID:30929742 More... NCBI chrNW_004624786:10,723,791...10,727,654
Ensembl chrNW_004624786:10,724,964...10,727,649 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:34186028 NCBI chrNW_004624769:1,156,522...1,246,531
Ensembl chrNW_004624769:1,156,460...1,232,612 		JBrowse link
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigk phosphatidylinositol glycan anchor biosynthesis class K ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:32220290 PMID:33392778 NCBI chrNW_004624742:19,893,642...19,990,393
Ensembl chrNW_004624742:19,893,686...19,987,186 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358 NCBI chrNW_004624740:16,421,372...16,426,408
Ensembl chrNW_004624740:16,419,165...16,424,935 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:33420346 NCBI chrNW_004624784:13,754,234...13,792,616 JBrowse link
G Zftraf1 zinc finger TRAF-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chrNW_004624735:12,394,710...12,411,520
Ensembl chrNW_004624735:12,394,710...12,408,851 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and seizures | ClinVar Annotator: match by term: OTUD7A-related condition OMIM
ClinVar		 PMID:25741868 PMID:31997314 PMID:33381903 NCBI chrNW_004624768:1,326,417...1,482,474
Ensembl chrNW_004624768:1,348,377...1,482,158 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related condition OMIM
ClinVar		 PMID:19344873 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31353023 More... NCBI chrNW_004624786:10,098,133...10,122,783
Ensembl chrNW_004624786:10,097,294...10,122,893 		JBrowse link
G Puf60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004624735:12,983,106...12,996,578
Ensembl chrNW_004624735:12,983,111...12,996,576 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sirt4 sirtuin 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chrNW_004624747:13,329,662...13,352,151
Ensembl chrNW_004624747:13,335,442...13,352,201 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chrNW_004624736:1,972,654...2,516,053
Ensembl chrNW_004624736:1,660,831...2,514,430 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm2l1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM
ClinVar		 PMID:28492532 PMID:33979636 NCBI chrNW_004624817:2,664,227...2,761,141
Ensembl chrNW_004624817:2,664,516...2,755,867 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r21 protein phosphatase 1 regulatory subunit 21 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | ClinVar Annotator: match by term: PPP1R21-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:29808498 PMID:30520571 More... NCBI chrNW_004624738:29,662,619...29,785,679
Ensembl chrNW_004624738:29,662,864...29,737,676 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp4 WW domain binding protein 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:37963460 NCBI chrNW_004624748:13,956,637...13,986,730
Ensembl chrNW_004624748:13,956,663...13,986,487 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28135719 PMID:28492532 PMID:33473207 PMID:34819662 NCBI chrNW_004624739:28,995,173...29,074,354
Ensembl chrNW_004624739:28,995,179...29,073,813 		JBrowse link
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM
ClinVar		 PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chrNW_004624745:30,549,195...30,635,081
Ensembl chrNW_004624745:30,549,257...30,635,269 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chrNW_004624969:265,457...290,514
Ensembl chrNW_004624969:265,117...290,361 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | ClinVar Annotator: match by term: RALGAPA1-related condition OMIM
ClinVar		 PMID:25741868 PMID:32004447 NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA ClinVar
OMIM		 PMID:37943610 PMID:37943617 NCBI chrNW_004624734:20,532,676...20,596,847
Ensembl chrNW_004624734:20,532,235...20,595,784 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chrNW_004624889:2,883,639...3,126,011
Ensembl chrNW_004624889:2,883,624...3,124,709 		JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chrNW_004624854:475,098...831,202
Ensembl chrNW_004624854:618,262...824,178 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		JBrowse link
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MEF2C-related disorder | ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar		 PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624743:8,072,871...8,235,174
Ensembl chrNW_004624743:8,072,673...8,235,252 		JBrowse link
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock3 dedicator of cytokinesis 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 chrNW_004624730:4,501,927...5,164,297
Ensembl chrNW_004624730:4,831,042...5,161,736 		JBrowse link
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA OMIM
ClinVar		 PMID:26467025 PMID:39306721 NCBI chrNW_004624771:18,239,437...18,270,408 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chrNW_004624850:6,339,918...6,357,925
Ensembl chrNW_004624850:6,337,094...6,357,997 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chrNW_004624787:9,103,392...9,164,695
Ensembl chrNW_004624787:9,103,271...9,167,043 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chrNW_004624772:18,791,590...18,820,818
Ensembl chrNW_004624772:18,791,590...18,816,679 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chrNW_004624969:212,089...254,532
Ensembl chrNW_004624969:212,321...253,328 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624969:265,457...290,514
Ensembl chrNW_004624969:265,117...290,361 		JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chrNW_004624969:254,408...263,014
Ensembl chrNW_004624969:254,692...263,563 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chrNW_004624969:167,635...199,963
Ensembl chrNW_004624969:167,676...199,963 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: 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 chrNW_004624773:18,088,942...19,110,838
Ensembl chrNW_004624773:18,089,300...19,109,716 		JBrowse link
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder, congenital, with dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:36943452 PMID:37163662 NCBI chrNW_004624819:2,352,322...2,562,060
Ensembl chrNW_004624819:2,380,195...2,501,975 		JBrowse link
Neuronal Ceroid Lipofuscinosis 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 More... NCBI chrNW_004624818:1,151,981...1,184,648
Ensembl chrNW_004624818:1,151,981...1,184,616 		JBrowse link
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dagla diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: DAGLA-related condition | ClinVar Annotator: match by term: Paroxysmal tonic upgaze, benign childhood, with ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35737950 NCBI chrNW_004624926:638,432...680,726
Ensembl chrNW_004624926:638,259...656,953 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar		 PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More... NCBI chrNW_004624768:3,701,187...3,848,943
Ensembl chrNW_004624768:3,712,049...3,848,651 		JBrowse link
PEHO-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: CCDC88A-related condition | ClinVar Annotator: match by term: PEHO-like syndrome OMIM
ClinVar		 PMID:25741868 PMID:26917597 PMID:28492532 PMID:30392057 PMID:37798908 More... NCBI chrNW_004624833:6,117,260...6,260,211
Ensembl chrNW_004624833:6,116,686...6,260,211 		JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 More... NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
RADIO-TARTAGLIA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Radio-Tartaglia syndrome | ClinVar Annotator: match by term: SPEN-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28404951 PMID:28492532 PMID:33596411 NCBI chrNW_004624764:2,058,689...2,144,640
Ensembl chrNW_004624764:2,058,773...2,143,640 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: KCTD1-related condition | ClinVar Annotator: match by term: Scalp-ear-nipple syndrome OMIM
ClinVar		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:9536098 PMID:10517259 More... NCBI chrNW_004624770:5,775,317...5,967,929
Ensembl chrNW_004624770:5,775,458...5,968,699 		JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf407 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 chrNW_004624806:5,624,108...6,106,630
Ensembl chrNW_004624806:5,622,629...6,074,418 		JBrowse link
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou3f3 POU class 3 homeobox 3 ISO ClinVar Annotator: match by term: Snijders blok-fisher syndrome OMIM
ClinVar		 PMID:25741868 PMID:30712878 PMID:31303265 PMID:39825153 NCBI chrNW_004624749:9,081,906...9,087,318 JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive OMIM
ClinVar		 PMID:1259395 PMID:2517465 PMID:7673954 PMID:7881433 PMID:7997024 More... NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
Three M Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition | ClinVar Annotator: match by term: Three M syndrome 1 OMIM
ClinVar		 PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21383554 More... NCBI chrNW_004624754:16,454,304...16,472,721
Ensembl chrNW_004624754:16,459,134...16,472,675 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: Three M syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 More... NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: THREE M SYNDROME 2 ClinVar PMID:19481195 PMID:25741868 NCBI chrNW_004624751:11,252,934...11,566,190
Ensembl chrNW_004624751:11,362,844...11,565,269 		JBrowse link
Three M Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: 3M syndrome 3 | ClinVar Annotator: match by term: CCDC8-related condition OMIM
ClinVar		 PMID:21737058 PMID:22325252 PMID:23018678 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624832:7,089,777...7,092,557 JBrowse link
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:34102099 NCBI chrNW_004624746:13,997,903...14,081,140
Ensembl chrNW_004624746:13,997,681...14,081,197 		JBrowse link
WHITE-KERNOHAN SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage specific DNA binding protein 1 ISO ClinVar Annotator: match by term: White-Kernohan syndrome OMIM
ClinVar		 PMID:25741868 PMID:33743206 NCBI chrNW_004624926:871,003...893,902
Ensembl chrNW_004624926:871,000...897,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    Pathological Conditions, Signs and Symptoms 11245
      Signs and Symptoms 9471
        Neurologic Manifestations 9178
          Neuromuscular Manifestations 768
            Muscle Hypotonia 284
              3-M syndrome + 4
              ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
              Al-Raqad Syndrome 1
              Alazami-Yuan Syndrome 3
              Allan-Herndon-Dudley syndrome 1
              Atonic-Astatic Syndrome of Foerster 0
              Au-Kline Syndrome 5
              BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME 1
              Birk-Barel syndrome 2
              Carnitine Acetyltransferase Deficiency 1
              Cohen syndrome 35
              Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
              DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES 1
              De Hauwere syndrome 2
              DeSanto-Shinawi syndrome 1
              Der Kaloustian Mcintosh Silver Syndrome 0
              Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
              Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
              Emanuel Syndrome 0
              Ethanolaminosis 0
              FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME 1
              FG syndrome + 14
              GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
              German Syndrome 0
              Glycosylphosphatidylinositol Biosynthesis Defect 25 1
              Grubben de Cock Borghgraef Syndrome 0
              HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
              Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
              Hypotonia, Seizures, and Precocious Puberty 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
              Infantile Hypotonia with Psychomotor Retardation + 4
              Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
              Joubert syndrome 10 2
              Joubert syndrome 3 3
              Joubert syndrome 5 2
              Ketoadipicaciduria 0
              Kilquist Syndrome 1
              Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
              NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY 1
              NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 2
              NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES 1
              NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY 2
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 3
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE 1
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 4
              NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
              NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES 1
              NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE 1
              Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
              Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities 1
              Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
              Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
              Neuronal Ceroid Lipofuscinosis 15 1
              PEHO-like syndrome 1
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
              Qazi Markouizos syndrome 0
              RADIO-TARTAGLIA SYNDROME 1
              SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
              SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
              Snijders Blok-Fisher Syndrome 1
              Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 0
              USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT 1
              Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
              WHITE-KERNOHAN SYNDROME 1
              autosomal recessive intellectual developmental disorder 73 1
              combined oxidative phosphorylation deficiency 3 2
              congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
              developmental delay, hypotonia, and impaired language 1
              fumarase deficiency 7
              glycogen storage disease IX + 28
              hypotonia, ataxia, and delayed development syndrome 1
              hypotonia-cystinuria syndrome 4
              intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1
              intellectual disability and myopathy syndrome 1
              multiple congenital anomalies-hypotonia-seizures syndrome + 28
              neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
              neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
              neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
              neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 1
              osteosclerotic metaphyseal dysplasia 1
              scalp-ear-nipple syndrome 1
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