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Gene: TALDO1 (transaldolase 1) Homo sapiens

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Symbol:

TALDO1

Name:

transaldolase 1

RGD ID:

733188

HGNC Page

HGNC:11559

Description:

Enables transaldolase activity. Involved in pentose-phosphate shunt, non-oxidative branch. Located in cytosol. Implicated in carbohydrate metabolic disorder.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

dihydroxyacetone transferase; glycerone transferase; TAL; TAL-H; TALDOR; TALH; testicular secretory protein Li 56; transaldolase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Taldo1 (transaldolase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Taldo1 (transaldolase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Taldo1 (transaldolase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TALDO1 (transaldolase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	TALDO1 (transaldolase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Taldo1 (transaldolase 1)	NCBI	Ortholog
Sus scrofa (pig):	TALDO1 (transaldolase 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (green monkey):	TALDO1 (transaldolase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Taldo1 (transaldolase 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Rwdd2a (RWD domain containing 2A)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Taldo1 (transaldolase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Taldo1 (transaldolase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	taldo1 (transaldolase 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	NQM1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Taldo	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tald-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	TAL1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	taldo1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	taldo1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

Related Pseudogenes:

TALDO1P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	747,464 - 765,012 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	747,415 - 765,012 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	747,464 - 765,012 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	737,432 - 755,024 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	737,431 - 755,023	NCBI
Celera	11	815,308 - 828,130 (+)	NCBI		Celera
Cytogenetic Map	11	p15.5	NCBI
HuRef	11	564,412 - 581,950 (+)	NCBI		HuRef
CHM1_1	11	746,369 - 763,851 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	798,942 - 816,524 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	carbohydrate metabolic disorder		IAGP		1599293	Transaldolase deficiency and OMIM:606003	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	Beckwith-Wiedemann syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome	ClinVar	PMID:21910219 more ...
TALDO1	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract	ClinVar	PMID:25741868 and PMID:28492532
TALDO1	Human	Chanarin-Dorfman syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neutral lipid storage myopathy	ClinVar	PMID:28492532
TALDO1	Human	Costello syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Costello syndrome	ClinVar	PMID:28492532
TALDO1	Human	delta beta-thalassemia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Thalassemia and gamma-delta-beta	ClinVar	PMID:2798417
TALDO1	Human	developmental and epileptic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	ClinVar	PMID:28492532
TALDO1	Human	early infantile epileptic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	ClinVar	PMID:28492532
TALDO1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
TALDO1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
TALDO1	Human	immunodeficiency 39		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Immunodeficiency 39	ClinVar	PMID:28492532
TALDO1	Human	neuronal ceroid lipofuscinosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	ClinVar	PMID:28492532
TALDO1	Human	Segawa Syndrome, Autosomal Recessive		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia	ClinVar	PMID:28492532
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:24033266
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:25741868
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:28492532 and PMID:31769880
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:23315216 more ...
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:28492532 and PMID:28776642
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:10869557 more ...
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:23315216 more ...
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:15877206 more ...
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:26238251
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:29923087
TALDO1	Human	Transaldolase Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar	PMID:11283793 and PMID:29923087

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	Chemical and Drug Induced Liver Injury		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:19436114
TALDO1	Human	hepatocellular carcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:19436114
TALDO1	Human	Parkinson's disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:23233872
TALDO1	Human	Transaldolase Deficiency		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	Transaldolase Deficiency		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of TALDO1 mRNA	CTD	PMID:36331819
TALDO1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of TALDO1 mRNA	CTD	PMID:22206623
TALDO1	Human	1,2-dimethylhydrazine	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of TALDO1 mRNA	CTD	PMID:22206623
TALDO1	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol co-treated with Norethindrone Acetate] results in increased expression of TALDO1 mRNA	CTD	PMID:22217510
TALDO1	Human	17beta-estradiol	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Estradiol results in decreased expression of TALDO1 mRNA	CTD	PMID:39298647
TALDO1	Human	17beta-estradiol	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Estradiol results in increased expression of TALDO1 mRNA	CTD	PMID:32145629
TALDO1	Human	17beta-hydroxy-17-methylestra-4,9,11-trien-3-one	decreases expression	EXP		6480464	Metribolone results in decreased expression of TALDO1 protein	CTD	PMID:17152098
TALDO1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of TALDO1 mRNA	CTD	PMID:20558275 and PMID:33387578
TALDO1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of TALDO1 mRNA	CTD	PMID:34747641
TALDO1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Taldo1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of TALDO1 mRNA	CTD	PMID:15034205
TALDO1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Taldo1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of TALDO1 mRNA	CTD	PMID:21570461
TALDO1	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:19954255
TALDO1	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:19954255
TALDO1	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1 and 3-dimethyl ether] results in decreased expression of TALDO1 protein	CTD	PMID:38598786
TALDO1	Human	2-acetamidofluorene	multiple interactions	ISO	Taldo1 (Rattus norvegicus)	6480464	[2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in increased expression of TALDO1 mRNA and [Diethylnitrosamine co-treated with 2-Acetylaminofluorene] results in increased expression of TALDO1 mRNA	CTD	PMID:14656948 and PMID:16158176
TALDO1	Human	3,3',5,5'-tetrabromobisphenol A	decreases expression	EXP		6480464	tetrabromobisphenol A results in decreased expression of TALDO1 protein	CTD	PMID:31675489
TALDO1	Human	3-chloropropane-1,2-diol	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	alpha-Chlorohydrin analog results in decreased expression of TALDO1 protein	CTD	PMID:26597043
TALDO1	Human	3-chloropropane-1,2-diol	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of TALDO1 protein	CTD	PMID:34915118
TALDO1	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of TALDO1 mRNA	CTD	PMID:18648102
TALDO1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Taldo1 (Mus musculus)	6480464	bisphenol S results in increased expression of TALDO1 mRNA	CTD	PMID:39298647
TALDO1	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of TALDO1 protein	CTD	PMID:34186270
TALDO1	Human	acetamide	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	acetamide results in increased expression of TALDO1 mRNA	CTD	PMID:31881176
TALDO1	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of TALDO1 protein	CTD	PMID:38460933
TALDO1	Human	ADP	increases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in increased abundance of Adenosine Diphosphate	CTD	PMID:19436114
TALDO1	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of TALDO1 polyA tail	CTD	PMID:30157460
TALDO1	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of TALDO1 mRNA	CTD	PMID:33167477
TALDO1	Human	ammonium chloride	affects expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of TALDO1 mRNA	CTD	PMID:16483693
TALDO1	Human	amphetamine	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Amphetamine results in increased expression of TALDO1 mRNA	CTD	PMID:30779732
TALDO1	Human	anthra[1,9-cd]pyrazol-6(2H)-one	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	pyrazolanthrone affects the reaction [TALDO1 gene mutant form promotes the reaction [Acetaminophen results in increased activity of and results in increased phosphorylation of MAPK8 protein]]	CTD	PMID:19436114
TALDO1	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of TALDO1 protein	CTD	PMID:33212167
TALDO1	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TALDO1 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of TALDO1 mRNA	CTD	PMID:39836092
TALDO1	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TALDO1 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of TALDO1 mRNA	CTD	PMID:39836092
TALDO1	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite inhibits the reaction [G3BP1 protein binds to TALDO1 protein] and arsenite promotes the reaction [G3BP1 protein binds to TALDO1 mRNA]	CTD	PMID:32406909
TALDO1	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of TALDO1 mRNA	CTD	PMID:20458559
TALDO1	Human	ATP	increases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in increased abundance of Adenosine Triphosphate	CTD	PMID:19436114
TALDO1	Human	benzo[a]pyrene	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of TALDO1 mRNA	CTD	PMID:22228805
TALDO1	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of TALDO1 mRNA	CTD	PMID:21632981 more ...
TALDO1	Human	benzo[a]pyrene	increases expression	ISO	Taldo1 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of TALDO1 mRNA	CTD	PMID:15034205 and PMID:25908611
TALDO1	Human	benzo[a]pyrene	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	AHR protein promotes the reaction [Benzo(a)pyrene results in increased expression of TALDO1 mRNA]	CTD	PMID:15034205
TALDO1	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of TALDO1 polyA tail	CTD	PMID:30157460
TALDO1	Human	beta-lapachone	increases expression	EXP		6480464	beta-lapachone results in increased expression of TALDO1 mRNA	CTD	PMID:38218311
TALDO1	Human	beta-naphthoflavone	increases expression	EXP		6480464	beta-Naphthoflavone results in increased expression of TALDO1 mRNA	CTD	PMID:19737606
TALDO1	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Diethylhexyl Phthalate results in decreased expression of TALDO1 mRNA	CTD	PMID:34319233
TALDO1	Human	bisphenol A	affects expression	ISO	Taldo1 (Rattus norvegicus)	6480464	bisphenol A affects the expression of TALDO1 mRNA	CTD	PMID:25181051
TALDO1	Human	bisphenol A	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	bisphenol A results in decreased expression of TALDO1 protein	CTD	PMID:35999755
TALDO1	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of TALDO1 protein	CTD	PMID:31675489 more ...
TALDO1	Human	bisphenol A	increases expression	ISO	Taldo1 (Mus musculus)	6480464	bisphenol A results in increased expression of TALDO1 mRNA	CTD	PMID:33221593
TALDO1	Human	bisphenol A	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of TALDO1 mRNA	CTD	PMID:30816183 more ...
TALDO1	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of TALDO1 mRNA	CTD	PMID:30903817
TALDO1	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of TALDO1 protein	CTD	PMID:34186270
TALDO1	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of TALDO1 protein	CTD	PMID:34186270
TALDO1	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of TALDO1 protein	CTD	PMID:34186270
TALDO1	Human	bleomycin A2	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Bleomycin results in decreased expression of TALDO1 protein	CTD	PMID:25933445
TALDO1	Human	Brodifacoum	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	bromfenacoum results in increased expression of TALDO1 protein	CTD	PMID:28903499
TALDO1	Human	cadmium dichloride	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Cadmium Chloride results in increased expression of TALDO1 mRNA and Cadmium Chloride results in increased expression of TALDO1 protein	CTD	PMID:21297351 and PMID:21699967
TALDO1	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of TALDO1 mRNA	CTD	PMID:25596134 and PMID:38568856
TALDO1	Human	captan	increases expression	ISO	Taldo1 (Mus musculus)	6480464	Captan results in increased expression of TALDO1 mRNA	CTD	PMID:31558096
TALDO1	Human	carbon nanotube	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Nanotubes and Carbon results in decreased expression of TALDO1 mRNA	CTD	PMID:25620056
TALDO1	Human	chloroacetaldehyde	increases expression	EXP		6480464	chloroacetaldehyde results in increased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	cidofovir anhydrous	increases expression	EXP		6480464	Cidofovir results in increased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of TALDO1 mRNA	CTD	PMID:27392435
TALDO1	Human	clofibrate	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of TALDO1 mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TALDO1 mRNA]	CTD	PMID:17585979
TALDO1	Human	cocaine	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Cocaine results in increased expression of TALDO1 protein	CTD	PMID:25100957
TALDO1	Human	copper(II) chloride	increases expression	EXP		6480464	cupric chloride results in increased expression of TALDO1 mRNA	CTD	PMID:17211630
TALDO1	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of TALDO1 mRNA	CTD	PMID:19549813
TALDO1	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of TALDO1 mRNA	CTD	PMID:29523930
TALDO1	Human	curcumin	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Curcumin results in increased expression of TALDO1 mRNA	CTD	PMID:18299980
TALDO1	Human	cyclosporin A	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Cyclosporine results in decreased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of TALDO1 mRNA	CTD	PMID:20106945 more ...
TALDO1	Human	D-ribofuranose 5-phosphate	increases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in increased abundance of ribose-5-phosphate	CTD	PMID:19436114
TALDO1	Human	D-xylulose 5-phosphate	increases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in increased abundance of xylulose-5-phosphate	CTD	PMID:19436114
TALDO1	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of TALDO1 mRNA	CTD	PMID:20458559
TALDO1	Human	diethylstilbestrol	increases expression	EXP		6480464	Diethylstilbestrol results in increased expression of TALDO1 mRNA	CTD	PMID:36621641
TALDO1	Human	dioxygen	decreases expression	EXP		6480464	Oxygen deficiency results in decreased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TALDO1 mRNA	CTD	PMID:27188386
TALDO1	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of TALDO1 mRNA	CTD	PMID:29803840
TALDO1	Human	elemental selenium	increases expression	EXP		6480464	Selenium results in increased expression of TALDO1 mRNA	CTD	PMID:19244175
TALDO1	Human	endosulfan	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of TALDO1 mRNA	CTD	PMID:29391264
TALDO1	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of TALDO1 protein	CTD	PMID:23301498
TALDO1	Human	fenofibrate	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Fenofibrate results in decreased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	fenthion	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Fenthion results in decreased expression of TALDO1 mRNA	CTD	PMID:34813904
TALDO1	Human	flutamide	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Flutamide results in increased expression of TALDO1 mRNA	CTD	PMID:24136188
TALDO1	Human	folic acid	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of TALDO1 mRNA	CTD	PMID:22206623
TALDO1	Human	folpet	increases expression	ISO	Taldo1 (Mus musculus)	6480464	folpet results in increased expression of TALDO1 mRNA	CTD	PMID:31558096
TALDO1	Human	furfural	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in increased expression of and affects the localization of TALDO1 protein	CTD	PMID:38598786
TALDO1	Human	gentamycin	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of TALDO1 mRNA and Gentamicins results in decreased expression of TALDO1 protein	CTD	PMID:22061828
TALDO1	Human	glutathione	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	Acetylcysteine inhibits the reaction [TALDO1 gene mutant form results in decreased abundance of Glutathione]	CTD	PMID:19436114
TALDO1	Human	glutathione	decreases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in decreased abundance of Glutathione	CTD	PMID:19436114
TALDO1	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of TALDO1 mRNA	CTD	PMID:17183730
TALDO1	Human	hydroquinone	affects expression	EXP		6480464	hydroquinone affects the expression of TALDO1 protein	CTD	PMID:20021034
TALDO1	Human	ibuprofen	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Ibuprofen results in decreased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	ifosfamide	increases expression	EXP		6480464	Ifosfamide results in increased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	inulin	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of TALDO1 mRNA	CTD	PMID:36331819
TALDO1	Human	isotretinoin	decreases expression	EXP		6480464	Isotretinoin results in decreased expression of TALDO1 mRNA	CTD	PMID:20436886
TALDO1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of TALDO1 protein	CTD	PMID:32959892
TALDO1	Human	lead diacetate	increases expression	EXP		6480464	lead acetate results in increased expression of TALDO1 mRNA	CTD	PMID:38568856
TALDO1	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[NAT10 protein affects the susceptibility to Lipopolysaccharides] which affects the expression of TALDO1 mRNA	CTD	PMID:35877022
TALDO1	Human	Macrosphelide A	affects binding	EXP		6480464	macrosphelide A binds to TALDO1 protein	CTD	PMID:34681284
TALDO1	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TALDO1 mRNA	CTD	PMID:39836092
TALDO1	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TALDO1 mRNA	CTD	PMID:39836092
TALDO1	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TALDO1 mRNA	CTD	PMID:39836092
TALDO1	Human	metformin	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Metformin results in decreased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of TALDO1 polyA tail	CTD	PMID:30157460
TALDO1	Human	methidathion	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	methidathion results in decreased expression of TALDO1 mRNA	CTD	PMID:34813904
TALDO1	Human	microcystin RR	decreases expression	EXP		6480464	microcystin RR results in decreased expression of TALDO1 protein	CTD	PMID:19111056
TALDO1	Human	N-acetyl-L-cysteine	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	Acetylcysteine inhibits the reaction [TALDO1 gene mutant form results in decreased abundance of Glutathione] more ...	CTD	PMID:19436114
TALDO1	Human	N-nitrosodiethylamine	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Diethylnitrosamine results in increased expression of TALDO1 mRNA	CTD	PMID:19638242
TALDO1	Human	N-nitrosodiethylamine	multiple interactions	ISO	Taldo1 (Rattus norvegicus)	6480464	[2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in increased expression of TALDO1 mRNA more ...	CTD	PMID:14656948 more ...
TALDO1	Human	NAD zwitterion	decreases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in decreased abundance of NAD	CTD	PMID:19436114
TALDO1	Human	NAD(+)	decreases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in decreased abundance of NAD	CTD	PMID:19436114
TALDO1	Human	NADP zwitterion	decreases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in decreased abundance of NADP	CTD	PMID:19436114
TALDO1	Human	NADP zwitterion	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	Acetylcysteine inhibits the reaction [TALDO1 gene mutant form results in decreased abundance of NADP]	CTD	PMID:19436114
TALDO1	Human	NADP(+)	decreases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in decreased abundance of NADP	CTD	PMID:19436114
TALDO1	Human	NADP(+)	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	Acetylcysteine inhibits the reaction [TALDO1 gene mutant form results in decreased abundance of NADP]	CTD	PMID:19436114
TALDO1	Human	nitric oxide	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	Acetylcysteine inhibits the reaction [TALDO1 gene mutant form results in decreased abundance of Nitric Oxide]	CTD	PMID:19436114
TALDO1	Human	nitric oxide	decreases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in decreased abundance of Nitric Oxide	CTD	PMID:19436114
TALDO1	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of TALDO1 protein	CTD	PMID:38460933
TALDO1	Human	paracetamol	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of TALDO1 mRNA more ...	CTD	PMID:17585979 and PMID:19436114
TALDO1	Human	paracetamol	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of TALDO1 mRNA	CTD	PMID:33387578
TALDO1	Human	paracetamol	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of TALDO1 mRNA	CTD	PMID:15084756
TALDO1	Human	paraquat	increases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Paraquat results in increased expression of TALDO1 mRNA	CTD	PMID:32680482
TALDO1	Human	parathion	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Parathion results in decreased expression of TALDO1 mRNA	CTD	PMID:34813904
TALDO1	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of TALDO1 mRNA more ...	CTD	PMID:36331819
TALDO1	Human	perfluorooctanoic acid	increases expression	ISO	Taldo1 (Mus musculus)	6480464	perfluorooctanoic acid results in increased expression of TALDO1 protein	CTD	PMID:37422089
TALDO1	Human	phenobarbital	affects expression	EXP		6480464	Phenobarbital affects the expression of TALDO1 mRNA	CTD	PMID:19159669
TALDO1	Human	pirinixic acid	multiple interactions	ISO	Taldo1 (Mus musculus)	6480464	PPARA protein promotes the reaction [pirinixic acid results in increased expression of TALDO1 mRNA]	CTD	PMID:20059764
TALDO1	Human	pirinixic acid	increases expression	ISO	Taldo1 (Mus musculus)	6480464	pirinixic acid results in increased expression of TALDO1 mRNA	CTD	PMID:18301758 more ...
TALDO1	Human	quercetin	increases expression	EXP		6480464	Quercetin results in increased expression of TALDO1 mRNA	CTD	PMID:21632981
TALDO1	Human	resveratrol	affects expression	EXP		6480464	resveratrol affects the expression of TALDO1 protein	CTD	PMID:22234583
TALDO1	Human	ribitol	increases abundance	ISO	Taldo1 (Mus musculus)	6480464	TALDO1 gene mutant form results in increased abundance of Ribitol	CTD	PMID:19436114
TALDO1	Human	rotenone	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	Rotenone results in decreased expression of TALDO1 mRNA	CTD	PMID:28374803
TALDO1	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of TALDO1 mRNA	CTD	PMID:33512557
TALDO1	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386 and PMID:37664457
TALDO1	Human	selenium atom	increases expression	EXP		6480464	Selenium results in increased expression of TALDO1 mRNA	CTD	PMID:19244175
TALDO1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of TALDO1 mRNA	CTD	PMID:38568856
TALDO1	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TALDO1 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of TALDO1 mRNA	CTD	PMID:39836092
TALDO1	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in increased expression of and affects the localization of TALDO1 protein more ...	CTD	PMID:38598786
TALDO1	Human	sodium dichromate	affects expression	ISO	Taldo1 (Rattus norvegicus)	6480464	sodium bichromate affects the expression of TALDO1 mRNA	CTD	PMID:22110744
TALDO1	Human	sodium dichromate	increases expression	ISO	Taldo1 (Mus musculus)	6480464	sodium bichromate results in increased expression of TALDO1 mRNA	CTD	PMID:31558096
TALDO1	Human	sodium dodecyl sulfate	decreases expression	EXP		6480464	Sodium Dodecyl Sulfate results in decreased expression of TALDO1 protein	CTD	PMID:21469165
TALDO1	Human	sulforaphane	increases expression	EXP		6480464	sulforaphane results in increased expression of TALDO1 mRNA	CTD	PMID:31838189
TALDO1	Human	T-2 toxin	affects expression	ISO	Taldo1 (Rattus norvegicus)	6480464	T-2 Toxin affects the expression of TALDO1 protein	CTD	PMID:26141394
TALDO1	Human	tetrachloromethane	affects expression	ISO	Taldo1 (Mus musculus)	6480464	Carbon Tetrachloride affects the expression of TALDO1 mRNA	CTD	PMID:17484886
TALDO1	Human	thioacetamide	multiple interactions	ISO	Taldo1 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with Thioacetamide] results in increased expression of TALDO1 mRNA	CTD	PMID:28943392
TALDO1	Human	titanium dioxide	increases methylation	ISO	Taldo1 (Mus musculus)	6480464	titanium dioxide results in increased methylation of TALDO1 promoter	CTD	PMID:35295148
TALDO1	Human	Tributyltin oxide	increases expression	ISO	Taldo1 (Mus musculus)	6480464	bis(tri-n-butyltin)oxide results in increased expression of TALDO1 mRNA	CTD	PMID:18958704
TALDO1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of TALDO1 mRNA	CTD	PMID:37042841
TALDO1	Human	triptonide	increases expression	ISO	Taldo1 (Mus musculus)	6480464	triptonide results in increased expression of TALDO1 mRNA	CTD	PMID:33045310
TALDO1	Human	troglitazone	increases expression	ISO	Taldo1 (Mus musculus)	6480464	troglitazone results in increased expression of TALDO1 mRNA	CTD	PMID:12732648
TALDO1	Human	troglitazone	decreases expression	ISO	Taldo1 (Rattus norvegicus)	6480464	troglitazone results in decreased expression of TALDO1 mRNA	CTD	PMID:25596134
TALDO1	Human	uranium atom	affects expression	EXP		6480464	Uranium affects the expression of TALDO1 mRNA	CTD	PMID:15672453
TALDO1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of TALDO1 gene	CTD	PMID:29154799
TALDO1	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of TALDO1 mRNA	CTD	PMID:23179753 and PMID:26272509
TALDO1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of TALDO1 mRNA	CTD	PMID:25979313
TALDO1	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of TALDO1 mRNA more ...	CTD	PMID:17183730 and PMID:27188386
TALDO1	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of TALDO1 protein	CTD	PMID:20543569
TALDO1	Human	zearalenone	decreases expression	ISO	Taldo1 (Mus musculus)	6480464	Zearalenone results in decreased expression of TALDO1 protein	CTD	PMID:25058043

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	carbohydrate metabolic process	involved_in	IEA	InterPro:IPR001585 and InterPro:IPR018225	150520179		InterPro	GO_REF:0000002
TALDO1	Human	carbohydrate metabolic process	involved_in	TAS		150520179	PMID:9524206	PINC	PMID:9524206
TALDO1	Human	fructose 6-phosphate metabolic process		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:8477719 and REF_RGD_ID:1641803
TALDO1	Human	fructose 6-phosphate metabolic process	involved_in	IEA	UniProtKB:Q9EQS0 and ensembl:ENSRNOP00000024863	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	glyceraldehyde-3-phosphate metabolic process		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:8477719 and REF_RGD_ID:1641803
TALDO1	Human	glyceraldehyde-3-phosphate metabolic process	involved_in	IEA	UniProtKB:Q9EQS0 and ensembl:ENSRNOP00000024863	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	pentose-phosphate shunt		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:2843500 and REF_RGD_ID:1599574
TALDO1	Human	pentose-phosphate shunt	involved_in	IEA	UniProtKB:Q93092 more ...	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	pentose-phosphate shunt	involved_in	IEA	UniProtKB-KW:KW-0570	150520179		UniProt	GO_REF:0000043
TALDO1	Human	pentose-phosphate shunt	involved_in	IEA	UniPathway:UPA00115	150520179		UniProt	GO_REF:0000041
TALDO1	Human	pentose-phosphate shunt	involved_in	IEA	InterPro:IPR004730	150520179		InterPro	GO_REF:0000002
TALDO1	Human	pentose-phosphate shunt, non-oxidative branch	involved_in	IMP		150520179	PMID:18498245	FlyBase	PMID:18498245
TALDO1	Human	pentose-phosphate shunt, non-oxidative branch	involved_in	IBA	PANTHER:PTN004184153 more ...	150520179		GO_Central	GO_REF:0000033
TALDO1	Human	pentose-phosphate shunt, non-oxidative branch	involved_in	IEA	UniProtKB:Q9EQS0 and ensembl:ENSRNOP00000024863	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	pentose-phosphate shunt, non-oxidative branch		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:3079759 more ...

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TALDO1	Human	cytoplasm	located_in	IEA	UniProtKB:Q93092 and ensembl:ENSMUSP00000026576	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	cytoplasm	located_in	TAS		150520179	PMID:16130169	UniProt	PMID:16130169
TALDO1	Human	cytoplasm	located_in	IEA	InterPro:IPR004730	150520179		InterPro	GO_REF:0000002
TALDO1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TALDO1	Human	cytosol	located_in	IDA		150520179	PMID:18498245	FlyBase	PMID:18498245
TALDO1	Human	cytosol	is_active_in	IEA	UniProtKB:Q93092 and ensembl:ENSMUSP00000026576	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-163764 more ...
TALDO1	Human	extracellular exosome	located_in	HDA		150520179	PMID:20458337 and PMID:23533145	UniProt	PMID:20458337 and PMID:23533145
TALDO1	Human	nucleus	is_active_in	IBA	MGI:1274789 more ...	150520179		GO_Central	GO_REF:0000033
TALDO1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
TALDO1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
TALDO1	Human	nucleus	located_in	HDA		150520179	PMID:21630459	UniProt	PMID:21630459

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	carbohydrate binding		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:2843500 and REF_RGD_ID:1599574
TALDO1	Human	carbohydrate binding	enables	IEA	UniProtKB:Q9EQS0 and ensembl:ENSRNOP00000024863	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	identical protein binding	enables	ISO	Taldo1 (Mus musculus)	9068941	PMID:27703206	UniProt	PMID:27703206
TALDO1	Human	monosaccharide binding		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:8477719 and REF_RGD_ID:1641803
TALDO1	Human	monosaccharide binding	enables	IEA	UniProtKB:Q9EQS0 and ensembl:ENSRNOP00000024863	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	protein binding	enables	IPI	UniProtKB:P42858	150520179	PMID:32814053	IntAct	PMID:32814053
TALDO1	Human	protein binding	enables	IPI	UniProtKB:Q9NYB0	150520179	PMID:21044950	IntAct	PMID:21044950
TALDO1	Human	protein binding	enables	IPI	UniProtKB:Q77YB1	150520179	PMID:25854864	AgBase	PMID:25854864
TALDO1	Human	transaldolase activity	enables	IMP		150520179	PMID:18498245	FlyBase	PMID:18498245
TALDO1	Human	transaldolase activity	enables	IEA	UniProtKB:Q93092 more ...	150520179		Ensembl	GO_REF:0000107
TALDO1	Human	transaldolase activity	enables	IBA	FB:FBgn0023477 more ...	150520179		GO_Central	GO_REF:0000033
TALDO1	Human	transaldolase activity	enables	IEA	ARBA:ARBA00034177	150520179		UniProt	GO_REF:0000117
TALDO1	Human	transaldolase activity	enables	TAS		150520179	PMID:9524206	PINC	PMID:9524206
TALDO1	Human	transaldolase activity	enables	IEA	EC:2.2.1.2	150520179		UniProt	GO_REF:0000003
TALDO1	Human	transaldolase activity	enables	IEA	InterPro:IPR004730	150520179		InterPro	GO_REF:0000002
TALDO1	Human	transaldolase activity	enables	IEA	RHEA:17053	150520179		RHEA	GO_REF:0000116
TALDO1	Human	transaldolase activity		ISO	Taldo1 (Rattus norvegicus)	9068941		RGD	PMID:2843500 more ...
TALDO1	Human	transaldolase activity	enables	IDA		150520179	PMID:18687684	UniProt	PMID:18687684
TALDO1	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	pentose phosphate pathway		ISO	Taldo1 (Rattus norvegicus)	1599574		RGD
TALDO1	Human	pentose phosphate pathway - non-oxidative phase		ISO	Taldo1 (Rattus norvegicus)	1641814		RGD
TALDO1	Human	pentose phosphate pathway - non-oxidative phase		ISO	Taldo1 (Rattus norvegicus)	1641803		RGD

Imported Annotations - SMPDB

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	pentose phosphate pathway		EXP		10402751		SMPDB	SMP:00031
TALDO1	Human	ribose 5-phosphate isomerase deficiency pathway		EXP		10402751		SMPDB	SMP:00519
TALDO1	Human	transaldolase deficiency pathway		EXP		10402751		SMPDB	SMP:00520

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	pentose phosphate pathway		IEA		6907045		KEGG	hsa:00030

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	Abnormal circulating glutamine concentration		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Abnormal clitoris morphology		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Abnormal facial shape		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Abnormal respiratory system physiology		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Abnormality of the kidney		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Anemia		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Anemia		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Asthma		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Atrial septal defect		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Atrial septal defect		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Biventricular hypertrophy		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Cirrhosis		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Cirrhosis		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Clitoral hypertrophy		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Coarctation of aorta		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Coarctation of aorta		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Decreased liver function		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Deep philtrum		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Edema		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Failure to thrive		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Hepatic fibrosis		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Hepatomegaly		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Hepatosplenomegaly		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Hepatosplenomegaly		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Hydrops fetalis		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Increased serum bile acid concentration		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Intrauterine growth retardation		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Low-set ears		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Micronodular cirrhosis		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Oligohydramnios		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Pancytopenia		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Patent ductus arteriosus		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Patent foramen ovale		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Poor suck		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Premature skin wrinkling		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Short neck		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Short philtrum		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Small for gestational age		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Splenomegaly		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Synophrys		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Telangiectasia		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Telangiectasia		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Thin vermilion border		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Thrombocytopenia		IAGP		8699517		HPO	ORPHA:101028
TALDO1	Human	Thrombocytopenia		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Triangular face		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Ventricular septal defect		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Wide anterior fontanel		IAGP		8699517		HPO	MIM:606003
TALDO1	Human	Wide mouth		IAGP		8699517		HPO	MIM:606003

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TALDO1	Human	Cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract	ClinVar	PMID:25741868 and PMID:28492532

#	Reference Title	Reference Citation
1.	The human transaldolase gene (TALDO1) is located on chromosome 11 at p15.4-p15.5.	Banki K, etal., Genomics 1997 Oct 1;45(1):233-8.
2.	The pentose phosphate pathway in the endoplasmic reticulum.	Bublitz C and Steavenson S, J Biol Chem. 1988 Sep 15;263(26):12849-53.
3.	Exchange reactions catalyzed by group-transferring enzymes oppose the quantitation and the unravelling of the identify of the pentose pathway.	Flanigan I, etal., Eur J Biochem. 1993 Apr 1;213(1):477-85.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
8.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12.	A humble hexose monophosphate pathway metabolite regulates short- and long-term control of lipogenesis.	Veech RL Proc Natl Acad Sci U S A. 2003 May 13;100(10):5578-80. Epub 2003 Apr 29.
13.	Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.	Verhoeven NM, etal., Am J Hum Genet. 2001 May;68(5):1086-92. Epub 2001 Mar 27.

PMID:7964452	PMID:8300619	PMID:9119412	PMID:9524206	PMID:10702296	PMID:10869557	PMID:12477932	PMID:14702349	PMID:15231747	PMID:15383276	PMID:15489334	PMID:16092052
PMID:16130169	PMID:17081983	PMID:17095351	PMID:17503352	PMID:17603756	PMID:18331807	PMID:18498245	PMID:18687684	PMID:18805652	PMID:19738201	PMID:20194725	PMID:20458337
PMID:20600873	PMID:21044950	PMID:21062960	PMID:21319273	PMID:21630459	PMID:21873635	PMID:22510381	PMID:22863883	PMID:22939629	PMID:23315216	PMID:23376485	PMID:23533145
PMID:23736541	PMID:24710276	PMID:24981860	PMID:24999758	PMID:25388407	PMID:25854864	PMID:25921289	PMID:26186194	PMID:26344197	PMID:26506232	PMID:26638075	PMID:26641092
PMID:26831064	PMID:27684187	PMID:27703206	PMID:28302793	PMID:28514442	PMID:28524877	PMID:28533407	PMID:28947420	PMID:29117863	PMID:30323337	PMID:30463901	PMID:30575818
PMID:30884312	PMID:30948266	PMID:31436131	PMID:31796584	PMID:31980649	PMID:32416067	PMID:32513696	PMID:32687490	PMID:32707033	PMID:32814053	PMID:32828637	PMID:32913203
PMID:34079125	PMID:34189442	PMID:34282517	PMID:34349018	PMID:34551306	PMID:34591612	PMID:34677006	PMID:34732716	PMID:35008187	PMID:35032548	PMID:35235311	PMID:35271311
PMID:35446349	PMID:35509820	PMID:35545034	PMID:35562734	PMID:35831314	PMID:35833506	PMID:35944360	PMID:36215168	PMID:36225252	PMID:36244648	PMID:36369321	PMID:36517590
PMID:36762613	PMID:36912080	PMID:37120454	PMID:37689310	PMID:37827155	PMID:39147351	PMID:39358380	PMID:39422127

TALDO1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	747,464 - 765,012 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	747,415 - 765,012 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	747,464 - 765,012 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	737,432 - 755,024 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	737,431 - 755,023	NCBI
Celera	11	815,308 - 828,130 (+)	NCBI		Celera
Cytogenetic Map	11	p15.5	NCBI
HuRef	11	564,412 - 581,950 (+)	NCBI		HuRef
CHM1_1	11	746,369 - 763,851 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	798,942 - 816,524 (+)	NCBI		T2T-CHM13v2.0

Taldo1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	140,972,073 - 140,982,889 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	140,972,112 - 140,982,881 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	141,392,160 - 141,402,976 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	141,392,199 - 141,402,968 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	148,578,059 - 148,588,875 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	141,243,531 - 141,254,288 (+)	NCBI		MGSCv36	mm8
Celera	7	141,185,913 - 141,196,721 (+)	NCBI		Celera
Cytogenetic Map	7	F5	NCBI
cM Map	7	86.73	NCBI

Taldo1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	205,923,196 - 205,933,526 (+)	NCBI		GRCr8
mRatBN7.2	1	196,493,634 - 196,503,965 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	196,493,589 - 196,503,974 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	204,839,159 - 204,849,489 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	211,967,918 - 211,978,015 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	204,642,055 - 204,652,153 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	214,375,555 - 214,385,886 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	214,375,515 - 214,385,885 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	221,292,669 - 221,302,999 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	201,582,856 - 201,593,187 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	201,737,566 - 201,747,896 (+)	NCBI
Celera	1	194,127,362 - 194,137,466 (+)	NCBI		Celera
Cytogenetic Map	1	q41	NCBI

Taldo1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955476	11,356,603 - 11,364,259 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955476	11,356,601 - 11,364,573 (-)	NCBI	ChiLan1.0	ChiLan1.0

TALDO1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	3,144,559 - 3,162,555 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	2,354,981 - 2,372,634 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	764,864 - 782,548 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	809,751 - 826,744 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	809,751 - 826,744 (+)	Ensembl	panpan1.1		panPan2

TALDO1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	25,764,138 - 25,772,043 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	25,436,609 - 25,444,516 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	26,372,292 - 26,380,192 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	26,372,286 - 26,380,960 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	25,881,807 - 25,889,713 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	25,526,824 - 25,534,713 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	26,139,191 - 26,147,099 (+)	NCBI		UU_Cfam_GSD_1.0

Taldo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	530,997 - 540,150 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936888	531,020 - 540,820 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936888	531,002 - 540,194 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TALDO1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	464,728 - 472,835 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	464,781 - 472,836 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	201,532 - 227,228 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TALDO1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	553,475 - 569,935 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	553,458 - 573,546 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	97,616,675 - 97,643,928 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Taldo1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624766	21,758,821 - 21,766,027 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624766	21,758,821 - 21,766,052 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TALDO1
222 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006755.2(TALDO1):c.512_514del (p.Ser171del)	deletion	Deficiency of transaldolase [RCV000007998]	Chr11:763392..763394 [GRCh38] Chr11:763392..763394 [GRCh37] Chr11:11p15.5	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	copy number gain	See cases [RCV000050947]	Chr11:196966..3377077 [GRCh38] Chr11:196966..3398307 [GRCh37] Chr11:186966..3354883 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	copy number gain	See cases [RCV000050927]	Chr11:196966..4435344 [GRCh38] Chr11:196966..4456574 [GRCh37] Chr11:186966..4413150 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	copy number loss	See cases [RCV000052645]	Chr11:758848..1998025 [GRCh38] Chr11:758848..2019255 [GRCh37] Chr11:748848..1975831 [NCBI36] Chr11:11p15.5	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	copy number gain	See cases [RCV000053614]	Chr11:218365..3377077 [GRCh38] Chr11:218365..3398307 [GRCh37] Chr11:208365..3354883 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]\|See cases [RCV000053592]	Chr11:196966..3624139 [GRCh38] Chr11:196966..3645369 [GRCh37] Chr11:186966..3601945 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2	copy number gain	See cases [RCV001310286]	Chr11:10701..5080415 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_006755.2(TALDO1):c.516dup (p.Ala173fs)	duplication	Deficiency of transaldolase [RCV000190629]	Chr11:763397..763398 [GRCh38] Chr11:763397..763398 [GRCh37] Chr11:11p15.5	pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	copy number gain	See cases [RCV000133997]	Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	copy number gain	See cases [RCV000139987]	Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	copy number gain	See cases [RCV000142890]	Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	copy number gain	See cases [RCV000142923]	Chr11:196855..2116185 [GRCh38] Chr11:196855..2137415 [GRCh37] Chr11:186855..2093991 [NCBI36] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.793del (p.Gln265fs)	deletion	Deficiency of transaldolase [RCV000150042]\|not provided [RCV001850032]	Chr11:763902 [GRCh38] Chr11:763902 [GRCh37] Chr11:11p15.5	pathogenic\|not provided
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	copy number gain	See cases [RCV000446036]	Chr11:193187..5291338 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5(chr11:680365-827724)x3	copy number gain	See cases [RCV000239908]	Chr11:680365..827724 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.*33C>T	single nucleotide variant	Deficiency of transaldolase [RCV000265768]	Chr11:764878 [GRCh38] Chr11:764878 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.461+14C>T	single nucleotide variant	Deficiency of transaldolase [RCV000285169]\|not provided [RCV002056244]	Chr11:760267 [GRCh38] Chr11:760267 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg)	single nucleotide variant	Deficiency of transaldolase [RCV000371441]\|Inborn genetic diseases [RCV002520767]\|TALDO1-related disorder [RCV004755862]\|not provided [RCV002056245]	Chr11:763358 [GRCh38] Chr11:763358 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.*9T>C	single nucleotide variant	Deficiency of transaldolase [RCV000271720]\|not provided [RCV004718501]	Chr11:764854 [GRCh38] Chr11:764854 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln)	single nucleotide variant	Deficiency of transaldolase [RCV000307213]	Chr11:764423 [GRCh38] Chr11:764423 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn)	single nucleotide variant	Deficiency of transaldolase [RCV000351493]	Chr11:764404 [GRCh38] Chr11:764404 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.1(TALDO1):c.-30C>T	single nucleotide variant	Deficiency of transaldolase [RCV000401466]	Chr11:747452 [GRCh38] Chr11:747452 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)	single nucleotide variant	Deficiency of transaldolase [RCV000272579]\|Inborn genetic diseases [RCV002520766]\|TALDO1-related disorder [RCV003957585]\|not provided [RCV002056243]	Chr11:755978 [GRCh38] Chr11:755978 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_006755.2(TALDO1):c.*12G>A	single nucleotide variant	Deficiency of transaldolase [RCV000310388]	Chr11:764857 [GRCh38] Chr11:764857 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.801C>T (p.Asn267=)	single nucleotide variant	Deficiency of transaldolase [RCV000311153]\|not provided [RCV000959895]	Chr11:763910 [GRCh38] Chr11:763910 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)	single nucleotide variant	Deficiency of transaldolase [RCV000320657]	Chr11:759021 [GRCh38] Chr11:759021 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu)	single nucleotide variant	Deficiency of transaldolase [RCV000342429]\|not provided [RCV001859827]	Chr11:763357 [GRCh38] Chr11:763357 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)	single nucleotide variant	Deficiency of transaldolase [RCV000364804]\|Inborn genetic diseases [RCV002520764]\|TALDO1-related disorder [RCV003967881]\|not provided [RCV001859826]	Chr11:747549 [GRCh38] Chr11:747549 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg)	single nucleotide variant	Deficiency of transaldolase [RCV000394136]\|not provided [RCV000417884]	Chr11:764414 [GRCh38] Chr11:764414 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_006755.2(TALDO1):c.726C>T (p.Gly242=)	single nucleotide variant	Deficiency of transaldolase [RCV000397472]\|not provided [RCV002522207]	Chr11:763835 [GRCh38] Chr11:763835 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.78C>G (p.Ala26=)	single nucleotide variant	Deficiency of transaldolase [RCV000265300]	Chr11:747559 [GRCh38] Chr11:747559 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.*30C>T	single nucleotide variant	Deficiency of transaldolase [RCV000358124]	Chr11:764875 [GRCh38] Chr11:764875 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)	single nucleotide variant	Deficiency of transaldolase [RCV000383278]\|TALDO1-related disorder [RCV003910128]\|not provided [RCV000994535]	Chr11:755962 [GRCh38] Chr11:755962 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys)	single nucleotide variant	Deficiency of transaldolase [RCV000336858]\|not provided [RCV002520768]	Chr11:763771 [GRCh38] Chr11:763771 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.488A>G (p.His163Arg)	single nucleotide variant	Deficiency of transaldolase [RCV000279454]	Chr11:763370 [GRCh38] Chr11:763370 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.692C>G (p.Thr231Ser)	single nucleotide variant	Inborn genetic diseases [RCV003245092]	Chr11:763801 [GRCh38] Chr11:763801 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.1(TALDO1):c.-37T>C	single nucleotide variant	Deficiency of transaldolase [RCV000398992]	Chr11:747445 [GRCh38] Chr11:747445 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.1(TALDO1):c.-30_-19del	microsatellite	Deficiency of transaldolase [RCV000363645]	Chr11:747446..747457 [GRCh38] Chr11:747446..747457 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.982-8_982-5del	microsatellite	Deficiency of transaldolase [RCV000364246]\|TALDO1-related disorder [RCV004755863]\|not provided [RCV002520769]	Chr11:764800..764803 [GRCh38] Chr11:764800..764803 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.48C>T (p.Asp16=)	single nucleotide variant	Deficiency of transaldolase [RCV000310145]	Chr11:747529 [GRCh38] Chr11:747529 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.1(TALDO1):c.*192G>A	single nucleotide variant	Deficiency of transaldolase [RCV000405268]\|not provided [RCV004705504]	Chr11:765037 [GRCh38] Chr11:765037 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.402C>T (p.Ile134=)	single nucleotide variant	Deficiency of transaldolase [RCV000377351]	Chr11:760194 [GRCh38] Chr11:760194 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.1(TALDO1):c.-36_-34CGC[7]	microsatellite	Deficiency of transaldolase [RCV000313734]\|not provided [RCV004693064]	Chr11:747445..747446 [GRCh38] Chr11:747445..747446 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3	copy number gain	See cases [RCV000449417]	Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)	single nucleotide variant	Deficiency of transaldolase [RCV000679866]\|not provided [RCV000431498]	Chr11:763456 [GRCh38] Chr11:763456 [GRCh37] Chr11:11p15.5	pathogenic\|uncertain significance
NM_006755.2(TALDO1):c.586T>C (p.Trp196Arg)	single nucleotide variant	not provided [RCV000437516]	Chr11:763468 [GRCh38] Chr11:763468 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)	single nucleotide variant	Deficiency of transaldolase [RCV000778339]\|not provided [RCV000483416]	Chr11:763457 [GRCh38] Chr11:763457 [GRCh37] Chr11:11p15.5	pathogenic\|likely pathogenic\|uncertain significance
NM_006755.2(TALDO1):c.713T>C (p.Phe238Ser)	single nucleotide variant	not provided [RCV000486804]	Chr11:763822 [GRCh38] Chr11:763822 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)	single nucleotide variant	Cataract [RCV000626899]\|not provided [RCV001860479]	Chr11:759056 [GRCh38] Chr11:759056 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	copy number gain	See cases [RCV000512225]	Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3	pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	copy number gain	not provided [RCV000683369]	Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	copy number gain	not provided [RCV000683372]	Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5(chr11:381754-821676)x3	copy number gain	not provided [RCV000749876]	Chr11:381754..821676 [GRCh37] Chr11:11p15.5	benign
GRCh37/hg19 11p15.5(chr11:556531-927020)x3	copy number gain	not provided [RCV000749890]	Chr11:556531..927020 [GRCh37] Chr11:11p15.5	benign
NM_006755.2(TALDO1):c.930C>T (p.Asp310=)	single nucleotide variant	Deficiency of transaldolase [RCV001111483]\|TALDO1-related disorder [RCV003932902]\|not provided [RCV000905648]	Chr11:764382 [GRCh38] Chr11:764382 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.66C>T (p.Thr22=)	single nucleotide variant	not provided [RCV000920074]	Chr11:747547 [GRCh38] Chr11:747547 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.327A>T (p.Ala109=)	single nucleotide variant	TALDO1-related disorder [RCV003923289]\|not provided [RCV000922363]	Chr11:759055 [GRCh38] Chr11:759055 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.897C>T (p.Asn299=)	single nucleotide variant	TALDO1-related disorder [RCV003895494]\|not provided [RCV000902181]	Chr11:764349 [GRCh38] Chr11:764349 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.427C>T (p.Leu143=)	single nucleotide variant	TALDO1-related disorder [RCV003940415]\|not provided [RCV000880630]	Chr11:760219 [GRCh38] Chr11:760219 [GRCh37] Chr11:11p15.5	likely benign
NC_000011.9:g.(?_612625)_(2193840_?)dup	duplication	Immunodeficiency 39 [RCV001033372]	Chr11:612625..2193840 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	copy number gain	Silver-Russell syndrome 1 [RCV000767567]	Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3	pathogenic
NM_006755.2(TALDO1):c.831G>A (p.Lys277=)	single nucleotide variant	TALDO1-related disorder [RCV004756108]\|not provided [RCV000919456]	Chr11:763940 [GRCh38] Chr11:763940 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)	single nucleotide variant	Deficiency of transaldolase [RCV000767871]	Chr11:764383 [GRCh38] Chr11:764383 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)	single nucleotide variant	Deficiency of transaldolase [RCV001114772]	Chr11:760148 [GRCh38] Chr11:760148 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)	single nucleotide variant	Deficiency of transaldolase [RCV000845092]	Chr11:760201 [GRCh38] Chr11:760201 [GRCh37] Chr11:11p15.5	not provided
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
NM_006755.2(TALDO1):c.699C>G (p.Val233=)	single nucleotide variant	Deficiency of transaldolase [RCV001171519]	Chr11:763808 [GRCh38] Chr11:763808 [GRCh37] Chr11:11p15.5	pathogenic
GRCh37/hg19 11p15.5(chr11:733608-986824)x3	copy number gain	not provided [RCV000846573]	Chr11:733608..986824 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)	single nucleotide variant	Deficiency of transaldolase [RCV000984949]\|not provided [RCV001869326]	Chr11:763486 [GRCh38] Chr11:763486 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly)	single nucleotide variant	Deficiency of transaldolase [RCV001250884]	Chr11:763824 [GRCh38] Chr11:763824 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.480C>T (p.His160=)	single nucleotide variant	Deficiency of transaldolase [RCV001109143]\|not provided [RCV002555063]	Chr11:763362 [GRCh38] Chr11:763362 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.300G>A (p.Pro100=)	single nucleotide variant	not provided [RCV003106428]	Chr11:759028 [GRCh38] Chr11:759028 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.36G>A (p.Glu12=)	single nucleotide variant	Deficiency of transaldolase [RCV001114557]\|not provided [RCV000923980]	Chr11:747517 [GRCh38] Chr11:747517 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_006755.2(TALDO1):c.462-4G>A	single nucleotide variant	Deficiency of transaldolase [RCV001114773]\|not provided [RCV002556249]	Chr11:763340 [GRCh38] Chr11:763340 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006755.2(TALDO1):c.55A>C (p.Lys19Gln)	single nucleotide variant	Inborn genetic diseases [RCV002540827]\|TALDO1-related disorder [RCV003913020]\|not provided [RCV000911495]	Chr11:747536 [GRCh38] Chr11:747536 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.222-144C>T	single nucleotide variant	not provided [RCV001596007]	Chr11:758806 [GRCh38] Chr11:758806 [GRCh37] Chr11:11p15.5	benign
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val)	single nucleotide variant	Deficiency of transaldolase [RCV001111484]	Chr11:764408 [GRCh38] Chr11:764408 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr)	single nucleotide variant	Deficiency of transaldolase [RCV001109144]\|not provided [RCV001856457]	Chr11:763815 [GRCh38] Chr11:763815 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln)	single nucleotide variant	Deficiency of transaldolase [RCV001109145]\|not provided [RCV002558095]	Chr11:763893 [GRCh38] Chr11:763893 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter)	single nucleotide variant	Deficiency of transaldolase [RCV001171519]	Chr11:763778 [GRCh38] Chr11:763778 [GRCh37] Chr11:11p15.5	pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup	duplication	Neuronal ceroid lipofuscinosis [RCV001032557]	Chr11:532616..2906985 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NM_006755.2(TALDO1):c.462-29_462-15del	microsatellite	not provided [RCV001708500]	Chr11:763300..763314 [GRCh38] Chr11:763300..763314 [GRCh37] Chr11:11p15.5	benign
NC_000011.10:g.(?_532616)_(795026_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV001031133]	Chr11:532616..795026 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.-6C>T	single nucleotide variant	Deficiency of transaldolase [RCV001113187]	Chr11:747476 [GRCh38] Chr11:747476 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.884G>A (p.Arg295His)	single nucleotide variant	Deficiency of transaldolase [RCV001250101]	Chr11:764336 [GRCh38] Chr11:764336 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.750dup (p.Asp251Ter)	duplication	not provided [RCV001008050]	Chr11:763858..763859 [GRCh38] Chr11:763858..763859 [GRCh37] Chr11:11p15.5	likely pathogenic
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	copy number gain	not provided [RCV001259592]	Chr11:230615..1150353 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.10:g.765066C>T	single nucleotide variant	not provided [RCV001641660]	Chr11:765066 [GRCh38] Chr11:765066 [GRCh37] Chr11:11p15.5	benign
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	copy number gain	Silver-Russell syndrome 1 [RCV001263222]	Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	copy number gain	See cases [RCV001263059]	Chr11:230615..4851537 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup	duplication	Autosomal recessive DOPA responsive dystonia [RCV001301561]\|Immunodeficiency 39 [RCV001033372]	Chr11:612625..2193840 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)	single nucleotide variant	Deficiency of transaldolase [RCV001329616]	Chr11:764340 [GRCh38] Chr11:764340 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.836-1G>A	single nucleotide variant	not provided [RCV003108371]	Chr11:764287 [GRCh38] Chr11:764287 [GRCh37] Chr11:11p15.5	pathogenic\|likely pathogenic
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)	single nucleotide variant	Deficiency of transaldolase [RCV001329617]	Chr11:764813 [GRCh38] Chr11:764813 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.330-10_330delinsAGA	indel	Deficiency of transaldolase [RCV001336998]	Chr11:760112..760122 [GRCh38] Chr11:760112..760122 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV001316682]	Chr11:298501..4113028 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NC_000011.9:g.(?_678674)_(838192_?)dup	duplication	not provided [RCV001982636]	Chr11:678674..838192 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.542C>T (p.Ala181Val)	single nucleotide variant	not provided [RCV001950740]	Chr11:763424 [GRCh38] Chr11:763424 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.494A>G (p.Asn165Ser)	single nucleotide variant	Inborn genetic diseases [RCV004042353]\|not provided [RCV001971792]	Chr11:763376 [GRCh38] Chr11:763376 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.938G>A (p.Arg313His)	single nucleotide variant	not provided [RCV001893800]	Chr11:764390 [GRCh38] Chr11:764390 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	copy number gain	not provided [RCV001825269]	Chr11:230615..5525355 [GRCh37] Chr11:11p15.5-15.4	not provided
NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys)	single nucleotide variant	Deficiency of transaldolase [RCV003136276]\|not provided [RCV001915252]	Chr11:764323 [GRCh38] Chr11:764323 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5(chr11:648556-1021236)x3	copy number gain	not provided [RCV001834449]	Chr11:648556..1021236 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_747482)_(747598_?)del	deletion	not provided [RCV002004955]	Chr11:747482..747598 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.562C>A (p.Pro188Thr)	single nucleotide variant	not provided [RCV001871531]	Chr11:763444 [GRCh38] Chr11:763444 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.477G>C (p.Gln159His)	single nucleotide variant	TALDO1-related disorder [RCV004756323]\|not provided [RCV001949016]	Chr11:763359 [GRCh38] Chr11:763359 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.409G>A (p.Asp137Asn)	single nucleotide variant	Inborn genetic diseases [RCV002562212]\|not provided [RCV001965497]	Chr11:760201 [GRCh38] Chr11:760201 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.330-10_330-3del	deletion	not provided [RCV001943974]	Chr11:760112..760119 [GRCh38] Chr11:760112..760119 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.330G>A (p.Arg110=)	single nucleotide variant	Inborn genetic diseases [RCV004671545]\|TALDO1-related disorder [RCV003948829]\|not provided [RCV001943975]	Chr11:760122 [GRCh38] Chr11:760122 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.314C>T (p.Thr105Ile)	single nucleotide variant	Inborn genetic diseases [RCV002579568]\|not provided [RCV001995553]	Chr11:759042 [GRCh38] Chr11:759042 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.683G>A (p.Ser228Asn)	single nucleotide variant	not provided [RCV001958418]	Chr11:763792 [GRCh38] Chr11:763792 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.457G>A (p.Gly153Arg)	single nucleotide variant	not provided [RCV001899284]	Chr11:760249 [GRCh38] Chr11:760249 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.61T>C (p.Phe21Leu)	single nucleotide variant	not provided [RCV001990817]	Chr11:747542 [GRCh38] Chr11:747542 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.469G>A (p.Glu157Lys)	single nucleotide variant	not provided [RCV001981459]	Chr11:763351 [GRCh38] Chr11:763351 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.400A>G (p.Ile134Val)	single nucleotide variant	not provided [RCV002046485]	Chr11:760192 [GRCh38] Chr11:760192 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.749G>A (p.Cys250Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004681367]\|not provided [RCV001973327]	Chr11:763858 [GRCh38] Chr11:763858 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.97+17G>T	single nucleotide variant	not provided [RCV002168839]	Chr11:747595 [GRCh38] Chr11:747595 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.461+18A>C	single nucleotide variant	not provided [RCV002086341]	Chr11:760271 [GRCh38] Chr11:760271 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.375C>T (p.Leu125=)	single nucleotide variant	not provided [RCV002088296]	Chr11:760167 [GRCh38] Chr11:760167 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-16T>C	single nucleotide variant	not provided [RCV002156180]	Chr11:763328 [GRCh38] Chr11:763328 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.347A>T (p.Asp116Val)	single nucleotide variant	TALDO1-related disorder [RCV003913743]\|not provided [RCV002136864]	Chr11:760139 [GRCh38] Chr11:760139 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_006755.2(TALDO1):c.835+7C>A	single nucleotide variant	TALDO1-related disorder [RCV003978874]\|not provided [RCV002161202]	Chr11:763951 [GRCh38] Chr11:763951 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-21_462-6del	deletion	not provided [RCV002155979]	Chr11:763315..763330 [GRCh38] Chr11:763315..763330 [GRCh37] Chr11:11p15.5	benign
NM_006755.2(TALDO1):c.153C>T (p.Ala51=)	single nucleotide variant	not provided [RCV002120559]	Chr11:755934 [GRCh38] Chr11:755934 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.98-17G>T	single nucleotide variant	not provided [RCV002201736]	Chr11:755862 [GRCh38] Chr11:755862 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.573G>A (p.Gly191=)	single nucleotide variant	not provided [RCV002084457]	Chr11:763455 [GRCh38] Chr11:763455 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.138G>A (p.Pro46=)	single nucleotide variant	TALDO1-related disorder [RCV003958553]\|not provided [RCV002202649]	Chr11:755919 [GRCh38] Chr11:755919 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.638-5T>C	single nucleotide variant	TALDO1-related disorder [RCV003968751]\|not provided [RCV002182713]	Chr11:763742 [GRCh38] Chr11:763742 [GRCh37] Chr11:11p15.5	likely benign
NC_000011.9:g.(?_532636)_(819925_?)dup	duplication	Neutral lipid storage myopathy [RCV003109697]	Chr11:532636..819925 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.715C>T (p.Arg239Cys)	single nucleotide variant	not provided [RCV003110026]	Chr11:763824 [GRCh38] Chr11:763824 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.802_803delinsAA (p.Ala268Asn)	indel	not provided [RCV003116935]	Chr11:763911..763912 [GRCh38] Chr11:763911..763912 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup	duplication	not provided [RCV003113442]	Chr11:721044..3988932 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NM_006755.2(TALDO1):c.1A>G (p.Met1Val)	single nucleotide variant	See cases [RCV002252569]	Chr11:747482 [GRCh38] Chr11:747482 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.413G>A (p.Arg138Gln)	single nucleotide variant	not provided [RCV002261915]	Chr11:760205 [GRCh38] Chr11:760205 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	deletion	Thalassemia, gamma-delta-beta [RCV000015529]	Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	copy number gain	See cases [RCV002286351]	Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	copy number gain	not provided [RCV002472435]	Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	copy number gain	not provided [RCV002473945]	Chr11:461373..2157956 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.637+9C>T	single nucleotide variant	not provided [RCV002615627]	Chr11:763528 [GRCh38] Chr11:763528 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.981+10G>C	single nucleotide variant	not provided [RCV002880721]	Chr11:764443 [GRCh38] Chr11:764443 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.930C>G (p.Asp310Glu)	single nucleotide variant	not provided [RCV002882096]	Chr11:764382 [GRCh38] Chr11:764382 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.506T>C (p.Leu169Pro)	single nucleotide variant	not provided [RCV002617797]	Chr11:763388 [GRCh38] Chr11:763388 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.617A>G (p.Tyr206Cys)	single nucleotide variant	not provided [RCV002617954]	Chr11:763499 [GRCh38] Chr11:763499 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.168C>T (p.Pro56=)	single nucleotide variant	TALDO1-related disorder [RCV003936580]\|not provided [RCV002614999]	Chr11:755949 [GRCh38] Chr11:755949 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_006755.2(TALDO1):c.518C>T (p.Ala173Val)	single nucleotide variant	Inborn genetic diseases [RCV002731975]	Chr11:763400 [GRCh38] Chr11:763400 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.462-14T>C	single nucleotide variant	not provided [RCV002593164]	Chr11:763330 [GRCh38] Chr11:763330 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.401T>G (p.Ile134Ser)	single nucleotide variant	not provided [RCV002871126]	Chr11:760193 [GRCh38] Chr11:760193 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.622C>T (p.Pro208Ser)	single nucleotide variant	not provided [RCV002785885]	Chr11:763504 [GRCh38] Chr11:763504 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.638-10C>T	single nucleotide variant	not provided [RCV003081603]	Chr11:763737 [GRCh38] Chr11:763737 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.96C>T (p.His32=)	single nucleotide variant	TALDO1-related disorder [RCV003943534]\|not provided [RCV002913125]	Chr11:747577 [GRCh38] Chr11:747577 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_006755.2(TALDO1):c.834G>A (p.Ala278=)	single nucleotide variant	not provided [RCV002621656]	Chr11:763943 [GRCh38] Chr11:763943 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.209G>A (p.Arg70Gln)	single nucleotide variant	Inborn genetic diseases [RCV002738256]	Chr11:755990 [GRCh38] Chr11:755990 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.537C>G (p.Ala179=)	single nucleotide variant	not provided [RCV003054271]	Chr11:763419 [GRCh38] Chr11:763419 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.618T>C (p.Tyr206=)	single nucleotide variant	not provided [RCV002910021]	Chr11:763500 [GRCh38] Chr11:763500 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.221+7G>T	single nucleotide variant	not provided [RCV003055047]	Chr11:756009 [GRCh38] Chr11:756009 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.225A>G (p.Ser75=)	single nucleotide variant	TALDO1-related disorder [RCV003898507]\|not provided [RCV002735781]	Chr11:758953 [GRCh38] Chr11:758953 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.329+15T>C	single nucleotide variant	not provided [RCV003037649]	Chr11:759072 [GRCh38] Chr11:759072 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.850C>A (p.Leu284Met)	single nucleotide variant	Inborn genetic diseases [RCV004673720]\|not provided [RCV002780526]	Chr11:764302 [GRCh38] Chr11:764302 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.948C>T (p.Ala316=)	single nucleotide variant	not provided [RCV002781232]	Chr11:764400 [GRCh38] Chr11:764400 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.481G>A (p.Gly161Ser)	single nucleotide variant	not provided [RCV002619619]	Chr11:763363 [GRCh38] Chr11:763363 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.782G>A (p.Gly261Glu)	single nucleotide variant	not provided [RCV002636341]	Chr11:763891 [GRCh38] Chr11:763891 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.98C>T (p.Ala33Val)	single nucleotide variant	not provided [RCV003007651]	Chr11:755879 [GRCh38] Chr11:755879 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.986G>C (p.Arg329Pro)	single nucleotide variant	not provided [RCV003005337]	Chr11:764817 [GRCh38] Chr11:764817 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.245A>T (p.Asn82Ile)	single nucleotide variant	not provided [RCV002954172]	Chr11:758973 [GRCh38] Chr11:758973 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.295A>G (p.Ile99Val)	single nucleotide variant	Inborn genetic diseases [RCV002786906]	Chr11:759023 [GRCh38] Chr11:759023 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.461+11C>T	single nucleotide variant	not provided [RCV002852229]	Chr11:760264 [GRCh38] Chr11:760264 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.208C>T (p.Arg70Trp)	single nucleotide variant	Inborn genetic diseases [RCV002933801]\|not provided [RCV002957164]	Chr11:755989 [GRCh38] Chr11:755989 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.221+17G>T	single nucleotide variant	not provided [RCV003041689]	Chr11:756019 [GRCh38] Chr11:756019 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.895_897del (p.Asn299del)	deletion	not provided [RCV003058270]	Chr11:764345..764347 [GRCh38] Chr11:764345..764347 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.543G>A (p.Ala181=)	single nucleotide variant	not provided [RCV003007449]	Chr11:763425 [GRCh38] Chr11:763425 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.183G>A (p.Leu61=)	single nucleotide variant	not provided [RCV002890163]	Chr11:755964 [GRCh38] Chr11:755964 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.63C>A (p.Phe21Leu)	single nucleotide variant	not provided [RCV003042707]	Chr11:747544 [GRCh38] Chr11:747544 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.370C>T (p.Arg124Trp)	single nucleotide variant	not provided [RCV002644202]	Chr11:760162 [GRCh38] Chr11:760162 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.191A>C (p.Glu64Ala)	single nucleotide variant	not provided [RCV002918951]	Chr11:755972 [GRCh38] Chr11:755972 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.945T>C (p.Phe315=)	single nucleotide variant	not provided [RCV002650829]	Chr11:764397 [GRCh38] Chr11:764397 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.982-19G>A	single nucleotide variant	not provided [RCV002601949]	Chr11:764794 [GRCh38] Chr11:764794 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-9G>A	single nucleotide variant	TALDO1-related disorder [RCV003906493]\|not provided [RCV003090390]	Chr11:763335 [GRCh38] Chr11:763335 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.465G>C (p.Glu155Asp)	single nucleotide variant	Inborn genetic diseases [RCV002855281]	Chr11:763347 [GRCh38] Chr11:763347 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.22C>A (p.Arg8Ser)	single nucleotide variant	not provided [RCV002630728]	Chr11:747503 [GRCh38] Chr11:747503 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.396T>C (p.Ala132=)	single nucleotide variant	not provided [RCV002715220]	Chr11:760188 [GRCh38] Chr11:760188 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.70G>T (p.Val24Leu)	single nucleotide variant	not provided [RCV003044955]	Chr11:747551 [GRCh38] Chr11:747551 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.221+7G>C	single nucleotide variant	TALDO1-related disorder [RCV003953866]\|not provided [RCV003090997]	Chr11:756009 [GRCh38] Chr11:756009 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.727G>A (p.Glu243Lys)	single nucleotide variant	not provided [RCV002578700]	Chr11:763836 [GRCh38] Chr11:763836 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.385T>C (p.Tyr129His)	single nucleotide variant	not provided [RCV002601920]	Chr11:760177 [GRCh38] Chr11:760177 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.501G>A (p.Thr167=)	single nucleotide variant	TALDO1-related disorder [RCV003898768]\|not provided [RCV003090811]	Chr11:763383 [GRCh38] Chr11:763383 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.982-14_982-13del	microsatellite	not provided [RCV002578556]	Chr11:764797..764798 [GRCh38] Chr11:764797..764798 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.949G>A (p.Ala317Thr)	single nucleotide variant	Inborn genetic diseases [RCV002577450]\|not provided [RCV002577449]	Chr11:764401 [GRCh38] Chr11:764401 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.489C>T (p.His163=)	single nucleotide variant	not provided [RCV003090428]	Chr11:763371 [GRCh38] Chr11:763371 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.722C>T (p.Thr241Met)	single nucleotide variant	not provided [RCV002646917]	Chr11:763831 [GRCh38] Chr11:763831 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.16G>C (p.Val6Leu)	single nucleotide variant	Inborn genetic diseases [RCV002656987]	Chr11:747497 [GRCh38] Chr11:747497 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.97+1G>A	single nucleotide variant	not provided [RCV002604713]	Chr11:747579 [GRCh38] Chr11:747579 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_006755.2(TALDO1):c.643_644del (p.Lys215fs)	deletion	Deficiency of transaldolase [RCV003314044]\|not provided [RCV002721948]	Chr11:763751..763752 [GRCh38] Chr11:763751..763752 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.898G>A (p.Glu300Lys)	single nucleotide variant	not provided [RCV002609566]	Chr11:764350 [GRCh38] Chr11:764350 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.981+5G>A	single nucleotide variant	not provided [RCV002585922]	Chr11:764438 [GRCh38] Chr11:764438 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.970C>T (p.Arg324Trp)	single nucleotide variant	not provided [RCV002584426]	Chr11:764422 [GRCh38] Chr11:764422 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.30G>A (p.Arg10=)	single nucleotide variant	not provided [RCV002607901]	Chr11:747511 [GRCh38] Chr11:747511 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.486C>G (p.Ile162Met)	single nucleotide variant	not provided [RCV002607920]	Chr11:763368 [GRCh38] Chr11:763368 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.982-17G>A	single nucleotide variant	not provided [RCV002608824]	Chr11:764796 [GRCh38] Chr11:764796 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.802G>A (p.Ala268Thr)	single nucleotide variant	not provided [RCV002603609]	Chr11:763911 [GRCh38] Chr11:763911 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.379G>A (p.Glu127Lys)	single nucleotide variant	not provided [RCV002611556]	Chr11:760171 [GRCh38] Chr11:760171 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.744C>T (p.Ala248=)	single nucleotide variant	not provided [RCV003067188]	Chr11:763853 [GRCh38] Chr11:763853 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.568G>T (p.Val190Phe)	single nucleotide variant	Deficiency of transaldolase [RCV003140857]	Chr11:763450 [GRCh38] Chr11:763450 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5(chr11:268586-748873)	copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion [RCV003319587]	Chr11:268586..748873 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.512C>T (p.Ser171Phe)	single nucleotide variant	Deficiency of transaldolase [RCV003319944]	Chr11:763394 [GRCh38] Chr11:763394 [GRCh37] Chr11:11p15.5	likely pathogenic
GRCh37/hg19 11p15.5(chr11:763344-764433)x0	copy number loss	not provided [RCV003326847]	Chr11:763344..764433 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)	deletion	Deficiency of transaldolase [RCV003337805]	Chr11:763804..763805 [GRCh38] Chr11:763804..763805 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_006755.2(TALDO1):c.931G>A (p.Gly311Arg)	single nucleotide variant	TALDO1-related disorder [RCV003422498]	Chr11:764383 [GRCh38] Chr11:764383 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_006755.2(TALDO1):c.218G>A (p.Gly73Asp)	single nucleotide variant	not provided [RCV003481994]	Chr11:755999 [GRCh38] Chr11:755999 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	copy number gain	not provided [RCV003484828]	Chr11:192764..3362853 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_006755.2(TALDO1):c.830A>C (p.Lys277Thr)	single nucleotide variant	not provided [RCV003481995]	Chr11:763939 [GRCh38] Chr11:763939 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	copy number gain	Russell-Silver syndrome [RCV003444025]	Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_006755.2(TALDO1):c.828C>A (p.Ala276=)	single nucleotide variant	not provided [RCV003693901]	Chr11:763937 [GRCh38] Chr11:763937 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.861C>T (p.Ile287=)	single nucleotide variant	not provided [RCV003877972]	Chr11:764313 [GRCh38] Chr11:764313 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.98-10A>G	single nucleotide variant	TALDO1-related disorder [RCV003984431]\|not provided [RCV003825197]	Chr11:755869 [GRCh38] Chr11:755869 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.708C>T (p.Ala236=)	single nucleotide variant	not provided [RCV003715830]	Chr11:763817 [GRCh38] Chr11:763817 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.351G>C (p.Ala117=)	single nucleotide variant	not provided [RCV003687836]	Chr11:760143 [GRCh38] Chr11:760143 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.372G>A (p.Arg124=)	single nucleotide variant	TALDO1-related disorder [RCV003954249]\|not provided [RCV003546006]	Chr11:760164 [GRCh38] Chr11:760164 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.177G>A (p.Gln59=)	single nucleotide variant	not provided [RCV003715562]	Chr11:755958 [GRCh38] Chr11:755958 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.166C>T (p.Pro56Ser)	single nucleotide variant	not provided [RCV003663256]	Chr11:755947 [GRCh38] Chr11:755947 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.638-12G>A	single nucleotide variant	not provided [RCV003669498]	Chr11:763735 [GRCh38] Chr11:763735 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.330-13C>G	single nucleotide variant	not provided [RCV003669705]	Chr11:760109 [GRCh38] Chr11:760109 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.603C>A (p.Thr201=)	single nucleotide variant	not provided [RCV003672077]	Chr11:763485 [GRCh38] Chr11:763485 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.981+12G>A	single nucleotide variant	not provided [RCV003702930]	Chr11:764445 [GRCh38] Chr11:764445 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.837C>T (p.Ala279=)	single nucleotide variant	not provided [RCV003557876]	Chr11:764289 [GRCh38] Chr11:764289 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.812T>C (p.Val271Ala)	single nucleotide variant	not provided [RCV003839833]	Chr11:763921 [GRCh38] Chr11:763921 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.637+11C>T	single nucleotide variant	not provided [RCV003580437]	Chr11:763530 [GRCh38] Chr11:763530 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.835+15C>T	single nucleotide variant	not provided [RCV003814046]	Chr11:763959 [GRCh38] Chr11:763959 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.221+17G>A	single nucleotide variant	not provided [RCV003668269]	Chr11:756019 [GRCh38] Chr11:756019 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.10T>C (p.Ser4Pro)	single nucleotide variant	TALDO1-related disorder [RCV003966477]\|not provided [RCV003552966]	Chr11:747491 [GRCh38] Chr11:747491 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.288A>G (p.Leu96=)	single nucleotide variant	not provided [RCV003551793]	Chr11:759016 [GRCh38] Chr11:759016 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.981+8T>C	single nucleotide variant	not provided [RCV003567642]	Chr11:764441 [GRCh38] Chr11:764441 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.51G>A (p.Gln17=)	single nucleotide variant	not provided [RCV003848115]	Chr11:747532 [GRCh38] Chr11:747532 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.714C>T (p.Phe238=)	single nucleotide variant	not provided [RCV003683773]	Chr11:763823 [GRCh38] Chr11:763823 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.836-19G>A	single nucleotide variant	not provided [RCV003867908]	Chr11:764269 [GRCh38] Chr11:764269 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.468C>T (p.Leu156=)	single nucleotide variant	not provided [RCV003728772]	Chr11:763350 [GRCh38] Chr11:763350 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.537C>T (p.Ala179=)	single nucleotide variant	not provided [RCV003848393]	Chr11:763419 [GRCh38] Chr11:763419 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5(chr11:743761-894572)x1	copy number loss	not specified [RCV003986955]	Chr11:743761..894572 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5(chr11:372929-762338)x3	copy number gain	not specified [RCV003986922]	Chr11:372929..762338 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.461+18A>T	single nucleotide variant	not provided [RCV003567144]	Chr11:760271 [GRCh38] Chr11:760271 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.507C>A (p.Leu169=)	single nucleotide variant	not provided [RCV003685553]	Chr11:763389 [GRCh38] Chr11:763389 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.687C>T (p.Tyr229=)	single nucleotide variant	not provided [RCV003865753]	Chr11:763796 [GRCh38] Chr11:763796 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.585T>C (p.Asp195=)	single nucleotide variant	not provided [RCV003729696]	Chr11:763467 [GRCh38] Chr11:763467 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.981+9dup	duplication	not provided [RCV003680845]	Chr11:764440..764441 [GRCh38] Chr11:764440..764441 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-10C>T	single nucleotide variant	TALDO1-related disorder [RCV003899676]\|not provided [RCV005101592]	Chr11:763334 [GRCh38] Chr11:763334 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_006755.2(TALDO1):c.*1C>G	single nucleotide variant	TALDO1-related disorder [RCV003959779]	Chr11:764846 [GRCh38] Chr11:764846 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.696T>C (p.Ile232=)	single nucleotide variant	TALDO1-related disorder [RCV003957294]	Chr11:763805 [GRCh38] Chr11:763805 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.*7C>A	single nucleotide variant	TALDO1-related disorder [RCV003894688]	Chr11:764852 [GRCh38] Chr11:764852 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.646_647del (p.Ser216fs)	microsatellite	TALDO1-related disorder [RCV003927056]	Chr11:763753..763754 [GRCh38] Chr11:763753..763754 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_006755.2(TALDO1):c.981A>G (p.Thr327=)	single nucleotide variant	TALDO1-related disorder [RCV003896938]	Chr11:764433 [GRCh38] Chr11:764433 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.1005T>C (p.Asn335=)	single nucleotide variant	TALDO1-related disorder [RCV003956703]	Chr11:764836 [GRCh38] Chr11:764836 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.*2G>A	single nucleotide variant	TALDO1-related disorder [RCV003957001]	Chr11:764847 [GRCh38] Chr11:764847 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.432A>G (p.Ser144=)	single nucleotide variant	TALDO1-related disorder [RCV003921441]	Chr11:760224 [GRCh38] Chr11:760224 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.1014G>A (p.Ter338=)	single nucleotide variant	TALDO1-related disorder [RCV003896373]	Chr11:764845 [GRCh38] Chr11:764845 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.61T>A (p.Phe21Ile)	single nucleotide variant	TALDO1-related disorder [RCV003951738]\|not provided [RCV005064838]	Chr11:747542 [GRCh38] Chr11:747542 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.651C>T (p.Val217=)	single nucleotide variant	TALDO1-related disorder [RCV003974105]	Chr11:763760 [GRCh38] Chr11:763760 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.656A>G (p.Lys219Arg)	single nucleotide variant	TALDO1-related disorder [RCV003897068]\|not provided [RCV005101571]	Chr11:763765 [GRCh38] Chr11:763765 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.565T>C (p.Phe189Leu)	single nucleotide variant	Inborn genetic diseases [RCV004468965]	Chr11:763447 [GRCh38] Chr11:763447 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.8G>A (p.Ser3Asn)	single nucleotide variant	Inborn genetic diseases [RCV004468966]	Chr11:747489 [GRCh38] Chr11:747489 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.185T>C (p.Val62Ala)	single nucleotide variant	Inborn genetic diseases [RCV004468963]	Chr11:755966 [GRCh38] Chr11:755966 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.268T>G (p.Leu90Val)	single nucleotide variant	Inborn genetic diseases [RCV004468964]	Chr11:758996 [GRCh38] Chr11:758996 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.169G>A (p.Ala57Thr)	single nucleotide variant	Inborn genetic diseases [RCV004468962]	Chr11:755950 [GRCh38] Chr11:755950 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup	duplication	Beckwith-Wiedemann syndrome [RCV004580105]	Chr11:216698..2906719 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NC_000011.9:g.(?_532636)_(824862_?)dup	duplication	Costello syndrome [RCV004580178]	Chr11:532636..824862 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_747482)_(764845_?)del	deletion	not provided [RCV004580354]	Chr11:747482..764845 [GRCh37] Chr11:11p15.5	pathogenic
NC_000011.9:g.(?_763324)_(764453_?)del	deletion	not provided [RCV004580355]	Chr11:763324..764453 [GRCh37] Chr11:11p15.5	pathogenic
NC_000011.9:g.(?_747482)_(747598_?)dup	duplication	not provided [RCV004580356]	Chr11:747482..747598 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_691481)_(795006_?)dup	duplication	not provided [RCV004580367]	Chr11:691481..795006 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.215T>C (p.Leu72Pro)	single nucleotide variant	Inborn genetic diseases [RCV004671178]	Chr11:755996 [GRCh38] Chr11:755996 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.263T>C (p.Phe88Ser)	single nucleotide variant	not provided [RCV004793302]	Chr11:758991 [GRCh38] Chr11:758991 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.740T>C (p.Leu247Pro)	single nucleotide variant	not provided [RCV004793304]	Chr11:763849 [GRCh38] Chr11:763849 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.798C>G (p.Asp266Glu)	single nucleotide variant	TALDO1-related disorder [RCV004756617]	Chr11:763907 [GRCh38] Chr11:763907 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.291G>A (p.Lys97=)	single nucleotide variant	TALDO1-related disorder [RCV004756770]	Chr11:759019 [GRCh38] Chr11:759019 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.671A>G (p.Tyr224Cys)	single nucleotide variant	TALDO1-related disorder [RCV004730444]	Chr11:763780 [GRCh38] Chr11:763780 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.732C>G (p.Ile244Met)	single nucleotide variant	Deficiency of transaldolase [RCV004771668]	Chr11:763841 [GRCh38] Chr11:763841 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.462-36_462-6del	deletion	TALDO1-related disorder [RCV004756667]	Chr11:763284..763314 [GRCh38] Chr11:763284..763314 [GRCh37] Chr11:11p15.5	benign
NM_006755.2(TALDO1):c.479A>T (p.His160Leu)	single nucleotide variant	Inborn genetic diseases [RCV004969271]	Chr11:763361 [GRCh38] Chr11:763361 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.916G>A (p.Glu306Lys)	single nucleotide variant	Inborn genetic diseases [RCV004969272]	Chr11:764368 [GRCh38] Chr11:764368 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.986G>A (p.Arg329Gln)	single nucleotide variant	Inborn genetic diseases [RCV004969273]	Chr11:764817 [GRCh38] Chr11:764817 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.158C>G (p.Ala53Gly)	single nucleotide variant	Deficiency of transaldolase [RCV004821019]	Chr11:755939 [GRCh38] Chr11:755939 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.937C>T (p.Arg313Cys)	single nucleotide variant	Inborn genetic diseases [RCV004969274]	Chr11:764389 [GRCh38] Chr11:764389 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.701T>G (p.Met234Arg)	single nucleotide variant	Inborn genetic diseases [RCV004969275]	Chr11:763810 [GRCh38] Chr11:763810 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.267G>A (p.Val89=)	single nucleotide variant	not provided [RCV005147646]	Chr11:758995 [GRCh38] Chr11:758995 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.168C>A (p.Pro56=)	single nucleotide variant	not provided [RCV005088913]	Chr11:755949 [GRCh38] Chr11:755949 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.738A>C (p.Ala246=)	single nucleotide variant	not provided [RCV005173128]	Chr11:763847 [GRCh38] Chr11:763847 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-14del	deletion	not provided [RCV005086755]	Chr11:763330 [GRCh38] Chr11:763330 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.768A>G (p.Ser256=)	single nucleotide variant	not provided [RCV005059928]	Chr11:763877 [GRCh38] Chr11:763877 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.637+20A>C	single nucleotide variant	not provided [RCV005084964]	Chr11:763539 [GRCh38] Chr11:763539 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.98-4C>G	single nucleotide variant	not provided [RCV005174414]	Chr11:755875 [GRCh38] Chr11:755875 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.97+13C>T	single nucleotide variant	not provided [RCV005066983]	Chr11:747591 [GRCh38] Chr11:747591 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.723G>A (p.Thr241=)	single nucleotide variant	not provided [RCV005062441]	Chr11:763832 [GRCh38] Chr11:763832 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-5C>T	single nucleotide variant	not provided [RCV005085531]	Chr11:763339 [GRCh38] Chr11:763339 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.768A>C (p.Ser256=)	single nucleotide variant	not provided [RCV005159347]	Chr11:763877 [GRCh38] Chr11:763877 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.324C>T (p.Asp108=)	single nucleotide variant	not provided [RCV005176885]	Chr11:759052 [GRCh38] Chr11:759052 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.289A>T (p.Lys97Ter)	single nucleotide variant	not provided [RCV005162623]	Chr11:759017 [GRCh38] Chr11:759017 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.208C>A (p.Arg70=)	single nucleotide variant	not provided [RCV005071666]	Chr11:755989 [GRCh38] Chr11:755989 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.49C>T (p.Gln17Ter)	single nucleotide variant	not provided [RCV005133522]	Chr11:747530 [GRCh38] Chr11:747530 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.461+7G>A	single nucleotide variant	not provided [RCV005197767]	Chr11:760260 [GRCh38] Chr11:760260 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.390G>A (p.Lys130=)	single nucleotide variant	not provided [RCV005084315]	Chr11:760182 [GRCh38] Chr11:760182 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.219C>T (p.Gly73=)	single nucleotide variant	not provided [RCV005076875]	Chr11:756000 [GRCh38] Chr11:756000 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.304C>T (p.Arg102Ter)	single nucleotide variant	not provided [RCV005071892]	Chr11:759032 [GRCh38] Chr11:759032 [GRCh37] Chr11:11p15.5	pathogenic
NM_006755.2(TALDO1):c.835+9C>T	single nucleotide variant	not provided [RCV005140294]	Chr11:763953 [GRCh38] Chr11:763953 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.462-9G>C	single nucleotide variant	not provided [RCV005129800]	Chr11:763335 [GRCh38] Chr11:763335 [GRCh37] Chr11:11p15.5	likely benign
NM_006755.2(TALDO1):c.835+1G>A	single nucleotide variant	not provided [RCV005178628]	Chr11:763945 [GRCh38] Chr11:763945 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_006755.2(TALDO1):c.163A>T (p.Met55Leu)	single nucleotide variant	Inborn genetic diseases [RCV004681935]	Chr11:755944 [GRCh38] Chr11:755944 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_644550)_(795006_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV003122703]	Chr11:644550..795006 [GRCh37] Chr11:11p15.5	uncertain significance
NM_006755.2(TALDO1):c.458G>A (p.Gly153Glu)	single nucleotide variant	Inborn genetic diseases [RCV003345677]	Chr11:760250 [GRCh38] Chr11:760250 [GRCh37] Chr11:11p15.5	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1817
Count of miRNA genes:	751
Interacting mature miRNAs:	872
Transcripts:	ENST00000319006, ENST00000528070, ENST00000528097, ENST00000530119, ENST00000530440, ENST00000530666, ENST00000532202, ENST00000532685, ENST00000533796
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597306891	GWAS1402965_H	pulse pressure measurement QTL GWAS1402965 (human)		1e-09	pulse pressure measurement	pulse pressure (CMO:0000292)	11	758446	758447	Human
1558691	SCL8_H	Serum cholesterol level QTL 8 (human)	1.2		Lipid level	HDL cholesterol	11	1	5227071	Human
597092369	GWAS1188443_H	chronic kidney disease, Proteinuria QTL GWAS1188443 (human)		0.000009	chronic kidney disease, Proteinuria		11	762791	762792	Human

D11S3271

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	759,967 - 760,252	UniSTS	GRCh37
Build 36	11	749,967 - 750,252	RGD	NCBI36
Celera	11	827,845 - 828,130	RGD
Cytogenetic Map	11	p15.5-p15.4	UniSTS
HuRef	11	576,890 - 577,175	UniSTS

SHGC-132114

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	764,908 - 765,018	UniSTS	GRCh37
GRCh37	X	74,620,973 - 74,621,084	UniSTS	GRCh37
Build 36	X	74,537,698 - 74,537,809	RGD	NCBI36
Celera	X	74,904,316 - 74,904,426	RGD
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	11	p15.5-p15.4	UniSTS
HuRef	11	581,834 - 581,944	UniSTS
HuRef	X	68,254,340 - 68,254,450	UniSTS

RH36444

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	750,076 - 750,297	UniSTS	GRCh37
Build 36	11	740,076 - 740,297	RGD	NCBI36
Celera	11	817,955 - 818,176	RGD
Cytogenetic Map	11	p15.5-p15.4	UniSTS
HuRef	11	567,059 - 567,280	UniSTS
GeneMap99-GB4 RH Map	11	20.53	UniSTS
NCBI RH Map	11	10.0	UniSTS

SHGC-12900

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	764,843 - 765,021	UniSTS	GRCh37
GRCh37	X	74,620,908 - 74,621,087	UniSTS	GRCh37
Build 36	X	74,537,633 - 74,537,812	RGD	NCBI36
Celera	X	74,904,251 - 74,904,429	RGD
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	11	p15.5-p15.4	UniSTS
HuRef	11	581,769 - 581,947	UniSTS
HuRef	X	68,254,275 - 68,254,453	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_008160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF058912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF058913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH006712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP006621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L19437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L27346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U62747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000319006 ⟹ ENSP00000321259

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	747,464 - 765,012 (+)	Ensembl

Ensembl Acc Id:

ENST00000528070 ⟹ ENSP00000435042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	747,415 - 763,520 (+)	Ensembl

Ensembl Acc Id:

ENST00000528097 ⟹ ENSP00000437098

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	747,428 - 765,012 (+)	Ensembl

Ensembl Acc Id:

ENST00000530119

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	747,464 - 760,965 (+)	Ensembl

Ensembl Acc Id:

ENST00000530440 ⟹ ENSP00000433501

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	747,454 - 763,850 (+)	Ensembl

Ensembl Acc Id:

ENST00000530666

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	763,982 - 764,947 (+)	Ensembl

Ensembl Acc Id:

ENST00000532202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	764,370 - 765,005 (+)	Ensembl

Ensembl Acc Id:

ENST00000532685

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	747,417 - 756,284 (+)	Ensembl

Ensembl Acc Id:

ENST00000533796

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	755,744 - 760,257 (+)	Ensembl

RefSeq Acc Id:

NM_006755 ⟹ NP_006746

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	747,464 - 765,012 (+)	NCBI
GRCh37	11	747,417 - 765,024 (+)	NCBI
Build 36	11	737,432 - 755,024 (+)	NCBI Archive
HuRef	11	564,412 - 581,950 (+)	ENTREZGENE
CHM1_1	11	746,369 - 763,851 (+)	NCBI
T2T-CHM13v2.0	11	798,942 - 816,524 (+)	NCBI

Sequence:

show sequence

AGACCCCTCGGTCTTGCTATGTCGAGCTCACCCGTGAAGCGTCAGAGGATGGAGTCCGCGCTGGACCAGCTCAAGCAGTTCACCACCGTGGTGGCCGACACGGGCGACTTCCACGCCATCGACGAGTA
CAAGCCCCAGGATGCTACCACCAACCCGTCCCTGATCCTGGCCGCAGCACAGATGCCCGCTTACCAGGAGCTGGTGGAGGAGGCGATTGCCTATGGCCGGAAGCTGGGCGGGTCACAAGAGGACCAGA
TTAAAAATGCTATTGATAAACTTTTTGTGTTGTTTGGAGCAGAAATACTAAAGAAGATTCCGGGCCGAGTATCCACAGAAGTAGACGCAAGGCTCTCCTTTGATAAAGATGCGATGGTGGCCAGAGCC
AGGCGGCTCATCGAGCTCTACAAGGAAGCTGGGATCAGCAAGGACCGAATTCTTATAAAGCTGTCATCAACCTGGGAAGGAATTCAGGCTGGAAAGGAGCTCGAGGAGCAGCACGGCATCCACTGCAA
CATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGC
CCCTGGAAGACCCTGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCCGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGT
GACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTC
TTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACGGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGAACGAATGTTCAATGCAGAGAATG
GAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCT
GATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCC

hide sequence


Protein RefSeqs	NP_006746	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB53943	(Get FASTA)	NCBI Sequence Viewer
	AAC51151	(Get FASTA)	NCBI Sequence Viewer
	AAC52068	(Get FASTA)	NCBI Sequence Viewer
	AAF40478	(Get FASTA)	NCBI Sequence Viewer
	AAH10103	(Get FASTA)	NCBI Sequence Viewer
	AAH18847	(Get FASTA)	NCBI Sequence Viewer
	AAL31313	(Get FASTA)	NCBI Sequence Viewer
	AEE61193	(Get FASTA)	NCBI Sequence Viewer
	BAG36219	(Get FASTA)	NCBI Sequence Viewer
	BAG58447	(Get FASTA)	NCBI Sequence Viewer
	EAX02377	(Get FASTA)	NCBI Sequence Viewer
	EAX02378	(Get FASTA)	NCBI Sequence Viewer
	EAX02379	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000321259
	ENSP00000321259.3
GenBank Protein	P37837	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_006746 ⟸ NM_006755

- UniProtKB:

Q8WV32 (UniProtKB/Swiss-Prot), O00751 (UniProtKB/Swiss-Prot), B2R8M2 (UniProtKB/Swiss-Prot), Q8WZ45 (UniProtKB/Swiss-Prot), P37837 (UniProtKB/Swiss-Prot), A0A140VK56 (UniProtKB/TrEMBL), F2Z393 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGGSQEDQIKNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIEL
YKEAGISKDRILIKLSSTWEGIQAGKELEEQHGIHCNMTLLFSFAQAVACAEAGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRNTGEIKALAGCDFLTIS
PKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIRKFAADAVKLERMLTERMFNAENGK

hide sequence

Ensembl Acc Id:

ENSP00000433501 ⟸ ENST00000530440

Ensembl Acc Id:

ENSP00000435042 ⟸ ENST00000528070

Ensembl Acc Id:

ENSP00000437098 ⟸ ENST00000528097

Ensembl Acc Id:

ENSP00000321259 ⟸ ENST00000319006

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P37837-F1-model_v2	AlphaFold	P37837	1-337	view protein structure

RGD ID:

6789424

Promoter ID:

HG_KWN:11857

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000257116, UC001LRA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	737,099 - 737,599 (+)	MPROMDB

RGD ID:

7219207

Promoter ID:

EPDNEW_H15349

Type:

initiation region

Name:

TALDO1_1

Description:

transaldolase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	747,464 - 747,524	EPDNEW

RGD ID:

6810179

Promoter ID:

HG_ACW:10481

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

TALDO1.IAPR07-UNSPLICED, TALDO1.NAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	753,736 - 754,487 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	TALDO1	COSMIC
Ensembl Genes	ENSG00000177156	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000319006	ENTREZGENE
	ENST00000319006.8	UniProtKB/Swiss-Prot
Gene3D-CATH	3.20.20.70	UniProtKB/Swiss-Prot
GTEx	ENSG00000177156	GTEx
HGNC ID	HGNC:11559	ENTREZGENE
Human Proteome Map	TALDO1	Human Proteome Map
InterPro	Aldolase_TIM	UniProtKB/Swiss-Prot
	TAL/FSA	UniProtKB/Swiss-Prot
	Transaldolase_1	UniProtKB/Swiss-Prot
	Transaldolase_AS	UniProtKB/Swiss-Prot
KEGG Report	hsa:6888	UniProtKB/Swiss-Prot
NCBI Gene	6888	ENTREZGENE
OMIM	602063	OMIM
PANTHER	PTHR10683	UniProtKB/Swiss-Prot
	PTHR10683:SF18	UniProtKB/Swiss-Prot
Pfam	TAL_FSA	UniProtKB/Swiss-Prot
PharmGKB	PA36328	PharmGKB
PROSITE	TRANSALDOLASE_1	UniProtKB/Swiss-Prot
	TRANSALDOLASE_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Aldolase	UniProtKB/Swiss-Prot
UniProt	A0A140VK56	ENTREZGENE, UniProtKB/TrEMBL
	B2R8M2	ENTREZGENE
	B4DID5_HUMAN	UniProtKB/TrEMBL
	E9PKI8_HUMAN	UniProtKB/TrEMBL
	E9PM01_HUMAN	UniProtKB/TrEMBL
	F2Z393	ENTREZGENE, UniProtKB/TrEMBL
	O00751	ENTREZGENE
	P37837	ENTREZGENE
	Q8WV32	ENTREZGENE
	Q8WZ45	ENTREZGENE
	TALDO_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2R8M2	UniProtKB/Swiss-Prot
	O00751	UniProtKB/Swiss-Prot
	Q8WV32	UniProtKB/Swiss-Prot
	Q8WZ45	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar