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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: MIM:103050
 xref: GARD:550


show annotations for term's descendants           Sort by:
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 chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498 		JBrowse link
G ADSL adenylosuccinate lyase ISO ClinVar Annotator: match by term: ADSL-related condition | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency OMIM
ClinVar		 PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 More... NCBI chr10:24,813,854...24,832,115 JBrowse link
G ANKRD54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,794,405...26,806,116
Ensembl chr10:26,794,426...26,806,131 		JBrowse link
G APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G APOBEC3Z3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,910,973...25,917,508
Ensembl chr10:25,911,291...25,913,808 		JBrowse link
G APOL5 apolipoprotein L5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,504,282...28,524,541
Ensembl chr10:28,504,282...28,524,492 		JBrowse link
G APOL6 apolipoprotein L6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,536,085...28,556,766
Ensembl chr10:28,534,428...28,548,423 		JBrowse link
G ATF4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,528,880...25,531,018
Ensembl chr10:25,528,874...25,530,993 		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 chr10:26,560,328...26,587,654
Ensembl chr10:26,560,494...26,574,052 		JBrowse link
G C10H22orf23 chromosome 10 C22orf23 homolog ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,707,503...26,714,808
Ensembl chr10:26,707,506...26,714,823 		JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,340,547...27,349,183
Ensembl chr10:27,340,623...27,348,494 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,381,446...25,493,680
Ensembl chr10:25,380,943...25,482,852 		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 chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885 		JBrowse link
G CARD10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,055,293...27,080,109
Ensembl chr10:27,053,915...27,079,341 		JBrowse link
G CBX6 chromobox 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,967,305...25,973,489
Ensembl chr10:25,967,300...25,988,497 		JBrowse link
G CBX7 chromobox 7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,125,064...26,134,693
Ensembl chr10:26,125,189...26,128,285 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,016,415...27,020,700
Ensembl chr10:27,017,077...27,019,582 		JBrowse link
G CENPM centromere protein M ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,413,177...23,425,559
Ensembl chr10:23,412,393...23,425,981 		JBrowse link
G CHADL chondroadherin like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,992,848...24,006,492
Ensembl chr10:23,953,912...24,003,162 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,495,451...27,510,203
Ensembl chr10:27,494,157...27,510,199 		JBrowse link
G CSDC2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,706,962...23,717,078
Ensembl chr10:23,709,176...23,711,093 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,386,646...26,412,429
Ensembl chr10:26,393,033...26,411,624 		JBrowse link
G CYTH4 cytohesin 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,238,028...27,268,759
Ensembl chr10:27,239,405...27,268,823 		JBrowse link
G DDX17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,282,592...26,303,128
Ensembl chr10:26,282,598...26,301,633 		JBrowse link
G DESI1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,661,745...23,686,992
Ensembl chr10:23,661,745...23,681,331 		JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,228,662...26,265,377
Ensembl chr10:26,230,428...26,264,820 		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 chr10:24,372,364...24,373,715
Ensembl chr10:24,372,507...24,373,436 		JBrowse link
G DNAL4 dynein axonemal light chain 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,023,706...26,037,883
Ensembl chr10:26,030,850...26,035,690 		JBrowse link
G EIF3D eukaryotic translation initiation factor 3 subunit D ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,890,913...27,904,887
Ensembl chr10:27,890,938...27,904,886 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,757,639...26,784,908
Ensembl chr10:26,757,639...26,785,008 		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 chr10:27,185,104...27,191,461
Ensembl chr10:27,185,504...27,187,594 		JBrowse link
G ENTHD1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,226,464...25,331,715
Ensembl chr10:25,232,244...25,331,720 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G FAM227A family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,134,876...26,228,245
Ensembl chr10:26,139,315...26,213,928 		JBrowse link
G FAM83F family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,106,663...25,140,989
Ensembl chr10:25,108,003...25,140,989 		JBrowse link
G FOXRED2 FAD dependent oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,908,090...27,923,602
Ensembl chr10:27,908,629...27,923,304 		JBrowse link
G GALR3 galanin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,814,942...26,819,725
Ensembl chr10:26,814,942...26,816,727 		JBrowse link
G GCAT glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		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 chr10:26,972,763...26,991,772
Ensembl chr10:26,972,760...26,991,689 		JBrowse link
G GRAP2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,156,233...25,220,106
Ensembl chr10:25,157,841...25,220,222 		JBrowse link
G GTPBP1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,074,969...26,103,520
Ensembl chr10:26,075,169...26,100,511 		JBrowse link
G H1-0 H1.0 linker histone ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,827,748...26,829,909
Ensembl chr10:26,829,089...26,829,673 		JBrowse link
G HMOX1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G IFT27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,688,742...27,707,343
Ensembl chr10:27,655,905...27,707,332 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775 		JBrowse link
G JOSD1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,103,874...26,115,728
Ensembl chr10:26,104,898...26,113,733 		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 chr10:26,321,274...26,348,978
Ensembl chr10:26,347,140...26,348,486 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,439,280...27,447,961
Ensembl chr10:27,443,180...27,447,712 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,303,177...26,315,838
Ensembl chr10:26,297,635...26,315,826 		JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,000,008...24,021,883
Ensembl chr10:24,002,183...24,021,753 		JBrowse link
G LGALS1 galectin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646 		JBrowse link
G LGALS2 galectin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,012,534...27,015,935
Ensembl chr10:27,010,550...27,015,935 		JBrowse link
G LOC102156332 apolipoprotein L2-like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,126,272...28,137,982 JBrowse link
G LOC119873790 small nucleolar RNA U83B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G LOC119873791 small nucleolar RNA U83B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G LOC119873833 small nucleolar RNA SNORD43 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G MAFF MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,475,478...26,486,109
Ensembl chr10:26,476,851...26,485,931 		JBrowse link
G MB myoglobin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,573,819...28,583,526
Ensembl chr10:28,552,749...28,583,522 		JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,526,687...24,560,948
Ensembl chr10:24,526,693...24,559,836 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,721,421...28,738,457
Ensembl chr10:28,721,660...28,738,390 		JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816 		JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,082,616...27,098,994
Ensembl chr10:27,082,789...27,098,617 		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 chr10:25,564,825...25,605,787
Ensembl chr10:25,568,053...25,570,413 		JBrowse link
G MICALL1 MICAL like 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,715,572...26,738,326
Ensembl chr10:26,717,322...26,738,850 		JBrowse link
G MIEF1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,534,231...25,548,565
Ensembl chr10:25,536,288...25,546,369 		JBrowse link
G MIR33A microRNA mir-33a ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,456,613...23,456,673
Ensembl chr10:23,456,613...23,456,673 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554 		JBrowse link
G MRTFA myocardin related transcription factor A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,561,161...24,759,586
Ensembl chr10:24,561,161...24,759,081 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,283,951...23,292,457
Ensembl chr10:23,283,933...23,292,638 		JBrowse link
G NOL12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,919,771...26,926,547 JBrowse link
G NPTXR neuronal pentraxin receptor ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,983,249...26,012,169
Ensembl chr10:25,988,906...26,008,258 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDXP pyridoxal phosphatase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,945,751...26,952,234
Ensembl chr10:26,946,838...26,952,217 		JBrowse link
G PHETA2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,297,522...23,303,019 JBrowse link
G PHF5A PHD finger protein 5A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,798,854...23,809,024
Ensembl chr10:23,798,969...23,808,865 		JBrowse link
G PICK1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,595,301...26,614,170
Ensembl chr10:26,595,768...26,613,756 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087 		JBrowse link
G PMM1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,699,476...23,706,716
Ensembl chr10:23,700,387...23,706,547 		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 chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507 		JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,728,697...23,742,345
Ensembl chr10:23,728,998...23,741,349 		JBrowse link
G PVALB parvalbumin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,655,896...27,674,309
Ensembl chr10:27,655,905...27,707,332 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397 		JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,953,877...23,985,622
Ensembl chr10:23,953,912...24,003,162 		JBrowse link
G RASD2 RASD family member 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,626,761...28,637,861
Ensembl chr10:28,626,121...28,632,851 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,284,836...28,494,618
Ensembl chr10:28,192,683...28,489,114 		JBrowse link
G RBX1 ring-box 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,265,733...24,280,253
Ensembl chr10:24,266,408...24,280,235 		JBrowse link
G RPL3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,739,089...25,745,487
Ensembl chr10:25,739,089...25,762,501 		JBrowse link
G RPS19BP1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,518,543...25,521,806
Ensembl chr10:25,518,629...25,521,736 		JBrowse link
G SEPTIN3 septin 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,370,393...23,396,922
Ensembl chr10:23,371,558...23,396,205 		JBrowse link
G SGSM3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,759,714...24,803,333
Ensembl chr10:24,760,162...24,769,478 		JBrowse link
G SH3BP1 SH3 domain binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,953,993...26,966,417
Ensembl chr10:26,954,137...26,966,417 		JBrowse link
G SHISA8 shisa family member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,444,051...23,448,692 JBrowse link
G SLC16A8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,589,236...26,593,703
Ensembl chr10:26,589,236...26,593,483 		JBrowse link
G SLC25A17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,417,294...24,462,057
Ensembl chr10:24,417,155...24,461,964 		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 chr10:23,293,713...23,296,889
Ensembl chr10:23,293,714...23,296,888 		JBrowse link
G SNU13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,622,897...23,631,526
Ensembl chr10:23,618,293...23,631,004 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689 		JBrowse link
G SSTR3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,324,067...27,332,570
Ensembl chr10:27,329,174...27,330,451 		JBrowse link
G ST13 ST13 Hsp70 interacting protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,379,997...24,411,764
Ensembl chr10:24,379,997...24,411,766 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,055,508...26,074,972
Ensembl chr10:26,055,536...26,074,434 		JBrowse link
G SYNGR1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,685,079...25,735,940
Ensembl chr10:25,687,633...25,713,300 		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 chr10:25,623,381...25,657,630
Ensembl chr10:25,623,940...25,657,543 		JBrowse link
G TEF TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,852,551...23,878,353
Ensembl chr10:23,838,788...23,878,190 		JBrowse link
G TMEM184B transmembrane protein 184B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,424,014...26,473,885
Ensembl chr10:26,448,632...26,471,680 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,393,650...27,435,893
Ensembl chr10:27,397,123...27,435,908 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,430,960...23,434,972
Ensembl chr10:23,433,052...23,438,946 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		JBrowse link
G TOB2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,817,778...23,830,330
Ensembl chr10:23,826,437...23,827,447 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,116,635...26,118,692 JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G TST thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,474,101...27,486,603
Ensembl chr10:27,473,764...27,486,575 		JBrowse link
G TXN2 thioredoxin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,947,647...27,960,634
Ensembl chr10:27,948,571...27,959,910 		JBrowse link
G WBP2NL WBP2 N-terminal like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,333,420...23,368,234
Ensembl chr10:23,344,094...23,368,153 		JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,304,342...24,379,562
Ensembl chr10:24,307,091...24,379,448 		JBrowse link
G XRCC6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,637,905...23,661,618
Ensembl chr10:23,638,237...23,661,480 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15726
    Nutritional and Metabolic Diseases 7466
      disease of metabolism 7466
        inherited metabolic disorder 5919
          purine-pyrimidine metabolic disorder 268
            adenylosuccinase lyase deficiency 122
Path 2
Term Annotations click to browse term
  disease 15726
    disease of anatomical entity 15371
      nervous system disease 13482
        central nervous system disease 12044
          brain disease 11319
            disease of mental health 8189
              developmental disorder of mental health 5599
                pervasive developmental disorder 2436
                  autism spectrum disorder 2420
                    autistic disorder 1920
                      adenylosuccinase lyase deficiency 122
paths to the root