Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	170302
Gene name	Aristaless related homeobox
Gene symbol	ARX
Synonyms (NCBI Gene)	CT121EIEE1ISSXMRX29MRX32MRX33MRX36MRX38MRX43MRX54MRX76MRX87MRXS1PRTS
Chromosome	X
Chromosome location	Xp21.3
Summary	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protei

Show/Hide all (74)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935479	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28936077	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894740	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894741	A>T	Pathogenic	Coding sequence variant, missense variant
rs104894743	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894745	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104894746	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs111033612	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs190910161	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs201300786	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs267606666	C>A	Pathogenic	Coding sequence variant, stop gained
rs387906492	CGCCGCCGCCGCCGCCGC>-,CGC,CGCCGC,CGCCGCCGC,CGCCGCCGCCGC,CGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	Uncertain-significance, pathogenic, likely-benign, benign, benign-likely-benign	Inframe insertion, inframe deletion, coding sequence variant
rs387906493	GGCCGCGGCTGCCGCGGCGGCCCC>-,GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC	Uncertain-significance, pathogenic	Inframe insertion, inframe deletion, coding sequence variant
rs387906715	A>T	Pathogenic	Missense variant, coding sequence variant
rs398122854	G>C	Pathogenic	Stop gained, coding sequence variant
rs398124506	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs398124510	GCGGCCGCGGCTGCCGCGGCGGCC>-,GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC	Likely-benign, uncertain-significance, pathogenic, benign-likely-benign	Inframe insertion, inframe deletion, coding sequence variant
rs398124512	CGCGGC>-,CGCGGCCGCGGC	Likely-pathogenic, uncertain-significance	Inframe insertion, inframe deletion, coding sequence variant
rs398124520	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783096	C>T	Pathogenic	Missense variant, coding sequence variant
rs587783141	C>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587783182	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783183	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783184	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783187	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783189	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783191	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783192	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783193	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783196	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587783199	GTGGACCCGCCGTGGCCGTGGCGGCCGCTGCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783200	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783202	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs745705522	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794726959	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs794727308	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797045289	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045290	->TGCTT	Pathogenic	Frameshift variant, coding sequence variant
rs797045291	->G	Pathogenic	Frameshift variant, coding sequence variant
rs797045292	->G	Pathogenic	Frameshift variant, coding sequence variant
rs797045294	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797045295	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797045298	->C	Pathogenic	Frameshift variant, coding sequence variant
rs797045303	GC>TA	Pathogenic	Stop gained, coding sequence variant
rs869312662	GTGAAC>TGGTACA	Pathogenic	Frameshift variant, coding sequence variant
rs886039308	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886043552	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043728	GCCCGGGCCGCCGGCCACGCCGAGGCGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs932485786	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057517705	->GGCTATG	Pathogenic	Frameshift variant, coding sequence variant
rs1057518794	TCTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064794843	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1328291159	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1365611175	CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC>-,CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC	Pathogenic	Inframe insertion, coding sequence variant, inframe deletion
rs1468724042	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1556046720	GGGCGCCCGATGCCA>CTGCGCC	Pathogenic	Frameshift variant, coding sequence variant
rs1556046904	->CATTGTGGAAAAGAGCCTGCAGGGAGAGCAAACAGCGCGGTCATGGCCTCGGGAGCTGTGCGCGGCGCCTCGGGCAGCGTCTCCCGCCGCTTGTCGCCGGGGC	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1556049694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556054888	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556055108	C>A	Pathogenic	Stop gained, coding sequence variant
rs1556056125	->GGCCGCGGCCGCGGCTGCCGCGGCGGC	Pathogenic	Inframe insertion, coding sequence variant
rs1556056131	->GCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1556056154	->GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG	Pathogenic	Inframe insertion, coding sequence variant
rs1556056354	->GGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	Pathogenic	Inframe insertion, coding sequence variant
rs1556056425	->CGCCGCCGCCGCCGCCGCTGCCGC	Pathogenic	Inframe insertion, coding sequence variant
rs1569394026	AGCGGCGCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569395541	->CGCGGCTGCCGCGGCGGCCCCTGC	Pathogenic	Coding sequence variant, inframe insertion
rs1601945599	TGGCCTTGAGCCTCAGCGCGGCTATGCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601946481	->TGCC	Pathogenic	Coding sequence variant, splice donor variant
rs1601946492	AGCTGGGTGTCGGAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1601946502	TGCTCAGGCCCAGCGGCGCCCCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601946658	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601948603	G>C	Pathogenic	Coding sequence variant, stop gained
rs1601949558	->T	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017028	hsa-miR-335-5p	Microarray	18185580
MIRT801507	hsa-miR-1208	CLIP-seq
MIRT801508	hsa-miR-1275	CLIP-seq
MIRT801509	hsa-miR-302a	CLIP-seq
MIRT801510	hsa-miR-302b	CLIP-seq
MIRT801511	hsa-miR-302c	CLIP-seq
MIRT801512	hsa-miR-302d	CLIP-seq
MIRT801513	hsa-miR-302e	CLIP-seq
MIRT801514	hsa-miR-3124-3p	CLIP-seq
MIRT801515	hsa-miR-3155	CLIP-seq
MIRT801516	hsa-miR-3155b	CLIP-seq
MIRT801517	hsa-miR-3175	CLIP-seq
MIRT801518	hsa-miR-3186-5p	CLIP-seq
MIRT801519	hsa-miR-372	CLIP-seq
MIRT801520	hsa-miR-373	CLIP-seq
MIRT801521	hsa-miR-4438	CLIP-seq
MIRT801522	hsa-miR-4525	CLIP-seq
MIRT801523	hsa-miR-4665-5p	CLIP-seq
MIRT801524	hsa-miR-4667-5p	CLIP-seq
MIRT801525	hsa-miR-4700-5p	CLIP-seq
MIRT801526	hsa-miR-4723-5p	CLIP-seq
MIRT801527	hsa-miR-484	CLIP-seq
MIRT801528	hsa-miR-5095	CLIP-seq
MIRT801529	hsa-miR-519a	CLIP-seq
MIRT801530	hsa-miR-519b-3p	CLIP-seq
MIRT801531	hsa-miR-519c-3p	CLIP-seq
MIRT801532	hsa-miR-520a-3p	CLIP-seq
MIRT801533	hsa-miR-520b	CLIP-seq
MIRT801534	hsa-miR-520c-3p	CLIP-seq
MIRT801535	hsa-miR-520d-3p	CLIP-seq
MIRT801536	hsa-miR-520e	CLIP-seq
MIRT801537	hsa-miR-600	CLIP-seq
MIRT801538	hsa-miR-625	CLIP-seq
MIRT801539	hsa-miR-637	CLIP-seq
MIRT801507	hsa-miR-1208	CLIP-seq
MIRT801509	hsa-miR-302a	CLIP-seq
MIRT801510	hsa-miR-302b	CLIP-seq
MIRT801511	hsa-miR-302c	CLIP-seq
MIRT801512	hsa-miR-302d	CLIP-seq
MIRT801513	hsa-miR-302e	CLIP-seq
MIRT801514	hsa-miR-3124-3p	CLIP-seq
MIRT801515	hsa-miR-3155	CLIP-seq
MIRT801516	hsa-miR-3155b	CLIP-seq
MIRT801519	hsa-miR-372	CLIP-seq
MIRT801520	hsa-miR-373	CLIP-seq
MIRT801521	hsa-miR-4438	CLIP-seq
MIRT801527	hsa-miR-484	CLIP-seq
MIRT801528	hsa-miR-5095	CLIP-seq
MIRT801529	hsa-miR-519a	CLIP-seq
MIRT801530	hsa-miR-519b-3p	CLIP-seq
MIRT801531	hsa-miR-519c-3p	CLIP-seq
MIRT801532	hsa-miR-520a-3p	CLIP-seq
MIRT801533	hsa-miR-520b	CLIP-seq
MIRT801534	hsa-miR-520c-3p	CLIP-seq
MIRT801535	hsa-miR-520d-3p	CLIP-seq
MIRT801536	hsa-miR-520e	CLIP-seq
MIRT2435499	hsa-miR-204	CLIP-seq
MIRT2435500	hsa-miR-211	CLIP-seq
MIRT2435501	hsa-miR-4446-5p	CLIP-seq
MIRT2435502	hsa-miR-4755-5p	CLIP-seq
MIRT2435503	hsa-miR-4795-3p	CLIP-seq
MIRT2435504	hsa-miR-496	CLIP-seq
MIRT2435505	hsa-miR-623	CLIP-seq
MIRT2435506	hsa-miR-659	CLIP-seq
MIRT2435507	hsa-miR-9	CLIP-seq
MIRT2435499	hsa-miR-204	CLIP-seq
MIRT2435500	hsa-miR-211	CLIP-seq
MIRT2435501	hsa-miR-4446-5p	CLIP-seq
MIRT2435502	hsa-miR-4755-5p	CLIP-seq
MIRT2435503	hsa-miR-4795-3p	CLIP-seq
MIRT2435504	hsa-miR-496	CLIP-seq
MIRT2435505	hsa-miR-623	CLIP-seq
MIRT2435506	hsa-miR-659	CLIP-seq
MIRT2435507	hsa-miR-9	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	22194193
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	22194193, 31691806
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	16301625
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	22194193
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	31691806
GO:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	21653829, 34356104
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22194193, 31691806
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0021759	Process	Globus pallidus development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021800	Process	Cerebral cortex tangential migration	IEA
GO:0021831	Process	Embryonic olfactory bulb interneuron precursor migration	IEA
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0021853	Process	Cerebral cortex GABAergic interneuron migration	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0035265	Process	Organ growth	IEA
GO:0044241	Process	Lipid digestion	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	31691806
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	31691806
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048666	Process	Neuron development	IBA
GO:0048666	Process	Neuron development	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0072148	Process	Epithelial cell fate commitment	IEA
GO:1904936	Process	Interneuron migration	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
300382	18060	ENSG00000004848

Q96QS3

Protein name

Homeobox protein ARX (Aristaless-related homeobox)

Protein function

Transcription factor (PubMed:22194193, PubMed:31691806). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C (PubMed:22194193, PubMed:31691806). Positively modulates transcripti

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	329 → 385	Homeodomain	Domain
PF03826	OAR	526 → 544	OAR motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult. {ECO:

Sequence

MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADP
EKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAG
PRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGA
PFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPE
DAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREE
LAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFP
PHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAK
EHAAQLTQLNILPGTSTGKEVC

Sequence length

562

Interactions

View interactions

1454

Show/Hide Causal Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal synaptic transmission	Pathogenic	rs1601949558	RCV001003643
Arachnoid cyst	Likely pathogenic; Pathogenic	rs2147323593	RCV001391250
ARX-related disorder	Likely pathogenic; Pathogenic	rs2048708701	RCV005250150
Corpus callosum agenesis-abnormal genitalia syndrome	Pathogenic; Likely pathogenic	rs398124510, rs2147323625, rs2147323593, rs2147318823, rs2147325502, rs387906492, rs104894743, rs111033612, rs104894745, rs1064794843, rs1601945599	RCV003883129 RCV001647333 RCV002479706 RCV002249275 RCV002249276 RCV004795391 RCV004795392 RCV005867743 RCV000011951 RCV002248703 RCV002249595
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs2147323593	RCV001391250
Developmental and epileptic encephalopathy, 1	Pathogenic; Likely pathogenic	rs398124510, rs2147320305, rs2147324381, rs2147318790, rs2147323593, rs2147320638, rs2147320644, rs2147318633, rs1556049714, rs2147323943, rs587783182, rs587783191, rs2147324296, rs2519101408, rs2519099220 View all (37 more)	RCV000813194 RCV001387395 RCV001383076 RCV001730128 RCV001989538 RCV001883211 RCV001984673 RCV002023895 RCV002023909 RCV001940114 RCV003764880 RCV000011957 RCV002267683 RCV002306444 RCV003050594 RCV003072879 RCV002801305 RCV000798531 RCV002903103 RCV002938665 RCV003030880 RCV003022177 RCV000209847 RCV001253064 RCV000011936 RCV000011939 RCV002512976 RCV001389322 RCV000011953 RCV003314520 RCV003486493 RCV003782902 RCV003792167 RCV003803335 RCV003800880 RCV003802239 RCV003813216 RCV003881679 RCV000022855 RCV000022856 RCV000022857 RCV000558205 RCV000585827 RCV001862086 RCV000785913 RCV000821543 RCV000794657 RCV000990553 RCV000990554 RCV001003472 RCV001230061 RCV001222747 RCV001215936 RCV001231316
epileptic encephalopathy, early infanitle, 1	Pathogenic	rs587783192, rs587783200, rs104894745	RCV000145048 RCV000145056 RCV000145067
Generalized hypotonia	Likely pathogenic	rs1057518794	RCV000415350
Hydranencephaly with abnormal genitalia	Pathogenic	rs104894746, rs1556046720	RCV000011952 RCV000499805
Intellectual disability	Pathogenic	rs1601946481	RCV000850213
Intellectual disability, X-linked, with or without seizures, ARX-related	Pathogenic; Likely pathogenic	rs398124510, rs2147320305, rs2147324381, rs2147322042, rs2147323593, rs2147320638, rs2147320644, rs2147318633, rs1556049714, rs2147323943, rs587783182, rs2147324110, rs2519099357, rs2519099311, rs2519099220 View all (27 more)	RCV000813194 RCV001387395 RCV001383076 RCV001825119 RCV001989538 RCV001883211 RCV001984673 RCV002023895 RCV002023909 RCV001940114 RCV003764880 RCV002273279 RCV002281621 RCV002281622 RCV003050594 RCV003072879 RCV002801305 RCV000798531 RCV002903103 RCV002938665 RCV003030880 RCV003022177 RCV000456891 RCV004795392 RCV002512976 RCV001194458 RCV000011949 RCV001851801 RCV003782902 RCV003792167 RCV003803335 RCV003800880 RCV003802239 RCV003813216 RCV001542511 RCV000558205 RCV001862086 RCV000755691 RCV000821543 RCV000794657 RCV001230061 RCV001222747 RCV001215936 RCV001231316
Partington syndrome	Pathogenic; Likely pathogenic	rs398124510, rs2147323593, rs2147325489, rs387906492, rs104894743	RCV003883129 RCV002479706 RCV002052419 RCV004795391 RCV004795392
Periventricular heterotopia	Likely pathogenic; Pathogenic	rs2147323593	RCV001391250
See cases	Likely pathogenic; Pathogenic	rs794726959	RCV002252016
Ventriculomegaly	Likely pathogenic; Pathogenic	rs1569394026	RCV001526546
West syndrome	Likely pathogenic; Pathogenic	rs387906492	RCV003488334
X-linked lissencephaly with abnormal genitalia	Pathogenic; Likely pathogenic	rs398124510, rs2147323593, rs2147320576, rs587783183, rs587783184, rs587783187, rs587783189, rs587783191, rs587783199, rs587783202, rs111033612, rs797045292, rs1556046904, rs797045291, rs797045290 View all (18 more)	RCV000192670 RCV002479706 RCV002052077 RCV000145039 RCV000145040 RCV000145043 RCV000145045 RCV000145047 RCV000145055 RCV000145058 RCV000145065 RCV000195080 RCV000194440 RCV000193341 RCV000194939 RCV000192868 RCV000192847 RCV000193636 RCV000192991 RCV000192640 RCV000193540 RCV004795392 RCV000011941 RCV000011943 RCV000011944 RCV000011945 RCV000011948 RCV000011956 RCV000376192 RCV003330280 RCV003991290 RCV000499705 RCV001002675 RCV001375968 RCV001289542
X-linked spasticity-intellectual disability-epilepsy syndrome	Pathogenic	rs2147320332	RCV001509556

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ARX-related epileptic encephalopathy	not provided	rs2048708756	RCV001825278
Autism	Uncertain significance	rs2147320389	RCV001726719
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs797045301, rs1417254985	RCV000720962 RCV000721047
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	Uncertain significance	rs876661147	RCV005861093
Seizure	Uncertain significance	rs1223069540	RCV002275311

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	19747203
Anxiety	Associate	21426321
Apraxia Ideomotor	Associate	24528893, 29984154
Apraxias	Associate	24528893, 29984154
Atrophy	Associate	19747203
Autistic Disorder	Associate	17044103
Basal Ganglia Diseases	Associate	29984154
Brain Diseases	Associate	17044103, 19738637, 19747203, 21108397, 21426321, 26344814
Central Nervous System Diseases	Associate	21426321
Central Nervous System Vascular Malformations	Associate	20384723, 26306640
Cognition Disorders	Associate	17480217
Congenital Abnormalities	Associate	17480217
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19738637
Cysts	Associate	12640086
Depressive Disorder	Associate	21426321
Developmental Disabilities	Associate	21426321, 23583054, 34087996
Diabetes Mellitus Type 1	Associate	26856418, 28215845
Disease	Associate	21426321
Disorders of Sex Development	Associate	21426321
Dyskinesia Drug Induced	Associate	19747203
Ectodermal Dysplasia	Associate	32519823
Epilepsy	Associate	17044103, 19738637, 21426321, 23583054, 27966542, 29190809
Epileptic Encephalopathy Early Infantile 3	Associate	36571524
Heart Arrest	Associate	34087996
Hydranencephaly	Associate	20384723
Infantile Epileptic Dyskinetic Encephalopathy	Associate	17668384, 19738637, 19747203, 20384723, 21108397, 21426321, 26306640, 28387369, 34087996, 35121198
Insulinoma	Associate	32103422
Intellectual Disability	Associate	15689447, 17480217, 17668384, 19738637, 24528893, 26306640, 29984154, 34452636
Learning Disabilities	Associate	21426321
Lennox Gastaut Syndrome	Associate	20384723
Leukoencephalopathies	Associate	19747203
Lissencephaly	Associate	19738637, 20384723, 29671837, 29984154
Lissencephaly X Linked 2	Associate	17044103, 17221017, 21426321, 26306640, 26633894, 29984154
Malformations of Cortical Development Group II	Associate	28953922
Mental Disorders	Associate	21426321
Mental Retardation X Linked	Associate	12640086, 15850492, 17480217
Mental Retardation X Linked Nonsyndromic	Associate	15850492, 17044103
Motor Disorders	Associate	24528893
Movement Disorders	Associate	19747203
Neoplasm Metastasis	Associate	32103422
Neoplasms	Associate	12640086, 31263286, 31846235, 35361846
Netherton Syndrome	Associate	33757564
Neurocognitive Disorders	Associate	21426321
Neurodegenerative Diseases	Associate	19747203
Neuroendocrine Tumors	Associate	30315258, 31263286, 31846235, 35739266
Neurologic Manifestations	Associate	17480217
Nonsyndromic Deafness	Associate	33757564
Obsessive Compulsive Disorder	Associate	27527274
Pancreatic Neoplasms	Associate	33849943, 35227293
Pancreatitis	Associate	26633894
Partington X linked mental retardation syndrome	Associate	24528893
Psychomotor Disorders	Associate	21426321
Schizophrenia	Associate	21426321
Seizures	Associate	17668384
Spasms Infantile	Associate	12736870, 15689447, 17668384, 19738637, 20384723, 26306640
Trochlear Nerve Diseases	Associate	24528893
Vitamin D Deficiency	Inhibit	25931474

ARX (aristaless related homeobox)