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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:adenylosuccinase lyase deficiency
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Accession:DOID:0050762 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)
Synonyms:exact_synonym: ADSL deficiency;   ADSL-RELATED CONDITION;   ADSLD;   Adenylosuccinase deficiency;   Adenylosuccinate lyase deficiency type 1;   Adenylosuccinate lyase deficiency type 2;   Adenylosuccinate lyase deficiency type 3;   Adenylosuccinate lyase deficiency type 4;   adenylosuccinate lyase deficiency;   succinylpurinemic autism
 primary_id: MESH:C538235;   RDO:0004188
 alt_id: OMIM:103050
 xref: GARD:550


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adenylosuccinase lyase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:407,482...452,538
Ensembl chrNW_004936492:407,482...452,537
JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency OMIM
ClinVar
PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 More... NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,280,318...3,291,197
Ensembl chrNW_004936492:3,280,367...3,291,336
JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,114,478...2,115,969
Ensembl chrNW_004936492:2,110,634...2,115,996
JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,061,745...3,090,151
Ensembl chrNW_004936492:3,061,789...3,089,799
JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,759,056...3,765,345
Ensembl chrNW_004936492:3,757,939...3,765,381
JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,990,430...2,030,744
Ensembl chrNW_004936492:1,998,793...2,075,257
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,125,182...4,232,239
Ensembl chrNW_004936492:4,125,173...4,236,062
JBrowse link
G Card10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,520,129...3,545,178
Ensembl chrNW_004936492:3,522,533...3,545,279
JBrowse link
G Cbx6 chromobox 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,522,126...2,532,382
Ensembl chrNW_004936492:2,521,553...2,532,516
JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,411,171...2,428,484
Ensembl chrNW_004936492:2,410,308...2,428,682
JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,677,502...2,681,845
Ensembl chrNW_004936492:2,677,502...2,681,511
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:180,135...195,599
Ensembl chrNW_004936492:178,390...195,806
JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,489,185...3,493,231 JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:75,196...88,446
Ensembl chrNW_004936492:75,238...87,912
JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:633,443...643,550
Ensembl chrNW_004936492:633,477...646,002
JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,887,052...3,904,337 JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:368,211...371,834
Ensembl chrNW_004936492:368,223...374,855
JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,929,589...3,974,070 JBrowse link
G CUNH22orf23 chromosome unknown C22orf23 homolog ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,196,828...3,202,593 JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,678,299...3,703,787
Ensembl chrNW_004936492:3,679,716...3,697,771
JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,806,630...2,826,071
Ensembl chrNW_004936492:2,806,516...2,827,181
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:326,029...348,219
Ensembl chrNW_004936492:326,032...346,102
JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,754,694...2,788,249
Ensembl chrNW_004936492:2,753,289...2,788,102
JBrowse link
G Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:970,645...972,294 JBrowse link
G Dnal4 dynein axonemal light chain 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,579,315...2,599,321
Ensembl chrNW_004936492:2,579,256...2,590,576
JBrowse link
G Eif3d eukaryotic translation initiation factor 3 subunit D ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,256,210...4,270,469
Ensembl chrNW_004936492:4,255,977...4,271,081
JBrowse link
G Eif3l eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,244,497...3,275,342 JBrowse link
G Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,624,400...3,641,118
Ensembl chrNW_004936492:3,634,974...3,637,436
JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,832,241...1,948,704
Ensembl chrNW_004936492:1,832,241...1,948,562
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138
JBrowse link
G Fam227a family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,690,575...2,731,287 JBrowse link
G Fam83f family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,697,759...1,739,830
Ensembl chrNW_004936492:1,713,327...1,739,823
JBrowse link
G Foxred2 FAD dependent oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,272,965...4,292,356
Ensembl chrNW_004936492:4,273,431...4,289,344
JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,301,409...3,303,512 JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,307,015...3,313,441
Ensembl chrNW_004936492:3,304,031...3,313,475
JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,445,271...3,464,960
Ensembl chrNW_004936492:3,445,094...3,464,809
JBrowse link
G Grap2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,759,182...1,796,049
Ensembl chrNW_004936492:1,759,298...1,796,049
JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,627,881...2,648,295
Ensembl chrNW_004936492:2,629,352...2,651,042
JBrowse link
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,077,957...4,089,898
Ensembl chrNW_004936492:4,077,615...4,090,197
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,795,940...3,805,822
Ensembl chrNW_004936492:3,795,940...3,805,774
JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,656,222...2,669,538
Ensembl chrNW_004936492:2,656,235...2,669,540
JBrowse link
G Kcnj4 potassium inwardly rectifying channel subfamily J member 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,865,803...2,867,657
Ensembl chrNW_004936492:2,865,879...2,867,201
JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,850,172...3,859,786
Ensembl chrNW_004936492:3,850,848...3,859,768
JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,826,746...2,833,548
Ensembl chrNW_004936492:2,825,646...2,832,637
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:642,434...666,402
Ensembl chrNW_004936492:637,835...666,435
JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222
JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,463,195...3,500,431
Ensembl chrNW_004936492:3,483,572...3,488,730
JBrowse link
G LOC101960563 uncharacterized LOC101960563 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:10,208...13,477 JBrowse link
G LOC101970440 histone H1.0 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,314,991...3,315,974
Ensembl chrNW_004936492:3,315,048...3,315,632
JBrowse link
G LOC101970904 apolipoprotein L6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,860,759...4,868,405 JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,983,322...2,988,900
Ensembl chrNW_004936492:2,986,813...2,987,836
JBrowse link
G Mb myoglobin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,890,871...4,897,665
Ensembl chrNW_004936492:4,890,871...4,897,665
JBrowse link
G Mchr1 melanin concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,153,895...1,156,980
Ensembl chrNW_004936492:1,153,651...1,157,142
JBrowse link
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:5,016,948...5,038,494
Ensembl chrNW_004936492:5,016,323...5,038,526
JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:196,829...277,052
Ensembl chrNW_004936492:197,076...276,726
JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,547,345...3,561,940
Ensembl chrNW_004936492:3,547,282...3,562,022
JBrowse link
G Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,144,775...2,149,344
Ensembl chrNW_004936492:2,144,732...2,186,871
JBrowse link
G Micall1 MICAL like 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,200,754...3,227,983
Ensembl chrNW_004936492:3,204,969...3,226,559
JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,118,565...2,132,181
Ensembl chrNW_004936492:2,117,790...2,131,220
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,873,295...3,876,895
Ensembl chrNW_004936492:3,873,176...3,876,706
JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,234,025...1,384,838
Ensembl chrNW_004936492:1,282,674...1,383,696
JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936718:31,946...55,822
Ensembl chrNW_004936718:37,135...48,893
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,001,711...4,015,253
Ensembl chrNW_004936492:4,001,898...4,010,456
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936718:60,797...67,614
Ensembl chrNW_004936718:60,231...67,654
JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,397,676...3,404,116
Ensembl chrNW_004936492:3,397,121...3,404,212
JBrowse link
G Nptxr neuronal pentraxin receptor ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,546,774...2,568,206
Ensembl chrNW_004936492:2,522,170...2,564,874
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,420,590...3,426,764
Ensembl chrNW_004936492:3,421,516...3,426,715
JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936718:50,354...55,699 JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:452,628...461,915
Ensembl chrNW_004936492:452,628...461,910
JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,098,196...3,115,921
Ensembl chrNW_004936492:3,097,629...3,116,526
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,011,752...3,060,962
Ensembl chrNW_004936492:3,011,772...3,060,986
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:357,732...368,042
Ensembl chrNW_004936492:357,665...372,008
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:395,348...407,588
Ensembl chrNW_004936492:395,309...407,076
JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,048,459...4,064,024
Ensembl chrNW_004936492:4,048,470...4,064,019
JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,726,375...3,737,961
Ensembl chrNW_004936492:3,726,313...3,736,905
JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:595,905...626,219
Ensembl chrNW_004936492:595,938...626,213
JBrowse link
G Rasd2 RASD family member 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,942,590...4,954,881
Ensembl chrNW_004936492:4,942,566...4,954,881
JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,624,013...4,826,715
Ensembl chrNW_004936492:4,645,167...4,821,291
JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:872,316...890,860
Ensembl chrNW_004936492:873,576...890,835
JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,299,067...2,305,139
Ensembl chrNW_004936492:2,299,992...2,305,089
JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,108,374...2,112,744
Ensembl chrNW_004936492:2,108,294...2,115,996
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:31,182...55,866 JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,380,322...1,416,060
Ensembl chrNW_004936492:1,385,347...1,416,124
JBrowse link
G Sh3bp1 SH3 domain binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,430,099...3,440,432
Ensembl chrNW_004936492:3,429,949...3,440,334
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:108,751...113,765
Ensembl chrNW_004936492:108,750...113,781
JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,090,624...3,096,462
Ensembl chrNW_004936492:3,092,113...3,096,269
JBrowse link
G Slc25a17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,015,121...1,066,802
Ensembl chrNW_004936492:1,014,703...1,068,515
JBrowse link
G Smdt1 single-pass membrane protein with aspartate rich tail 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936718:55,879...59,547
Ensembl chrNW_004936718:55,885...59,543
JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:289,834...295,883
Ensembl chrNW_004936492:289,770...297,670
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:115,923...174,614
Ensembl chrNW_004936492:115,821...174,775
JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,745,455...3,752,330
Ensembl chrNW_004936492:3,748,135...3,751,089
JBrowse link
G St13 ST13 Hsp70 interacting protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:976,928...1,010,748 JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,609,444...2,629,050
Ensembl chrNW_004936492:2,609,406...2,626,564
JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,253,703...2,262,040
Ensembl chrNW_004936492:2,253,705...2,262,151
JBrowse link
G Tab1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,207,147...2,234,573
Ensembl chrNW_004936492:2,210,197...2,234,489
JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:505,978...528,087
Ensembl chrNW_004936492:505,906...528,384
JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,962,873...2,984,202
Ensembl chrNW_004936492:2,963,054...2,984,202
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,819,347...3,848,372
Ensembl chrNW_004936492:3,819,309...3,848,075
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:98,878...101,920 JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:467,221...477,838 JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:2,670,734...2,672,463
Ensembl chrNW_004936492:2,671,076...2,672,446
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,337,791...3,390,420 JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:3,880,545...3,886,881
Ensembl chrNW_004936492:3,880,500...3,886,950
JBrowse link
G Txn2 thioredoxin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:4,310,394...4,320,714
Ensembl chrNW_004936492:4,311,287...4,321,763
JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:919,963...976,926
Ensembl chrNW_004936492:919,689...976,910
JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:303,843...325,812
Ensembl chrNW_004936492:300,057...325,845
JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004936492:532,883...584,142
Ensembl chrNW_004936492:532,632...584,574
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        inherited metabolic disorder 5208
          purine-pyrimidine metabolic disorder 189
            adenylosuccinase lyase deficiency 114
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            disease of mental health 7436
              developmental disorder of mental health 5048
                pervasive developmental disorder 2141
                  autism spectrum disorder 2129
                    autistic disorder 1668
                      adenylosuccinase lyase deficiency 114
paths to the root