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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal synaptic transmission	Pathogenic	rs1601949558	RCV001003643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arachnoid cyst	Likely pathogenic; Pathogenic	rs2147323593	RCV001391250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARX-related disorder	Likely pathogenic; Pathogenic	rs2048708701	RCV005250150	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs2147323593	RCV001391250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (49 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
epileptic encephalopathy, early infanitle, 1	Pathogenic	rs587783192, rs587783200, rs104894745	RCV000145048 RCV000145056 RCV000145067	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Likely pathogenic	rs1057518794	RCV000415350	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydranencephaly with abnormal genitalia	Pathogenic	rs104894746, rs1556046720	RCV000011952 RCV000499805	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1601946481	RCV000850213	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Partington syndrome	Pathogenic; Likely pathogenic	rs398124510, rs2147323593, rs2147325489, rs387906492, rs104894743	RCV003883129 RCV002479706 RCV002052419 RCV004795391 RCV004795392	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periventricular heterotopia	Likely pathogenic; Pathogenic	rs2147323593	RCV001391250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Likely pathogenic; Pathogenic	rs1569394026	RCV001526546	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Likely pathogenic; Pathogenic	rs387906492	RCV003488334	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked spasticity-intellectual disability-epilepsy syndrome	Pathogenic	rs2147320332	RCV001509556	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARACHNOID CYSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARX-related epileptic encephalopathy	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY, X-LINKED, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUSSELL-SILVER SYNDROME, X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SPASTICITY, INTELLECTUAL DISABILITY, EPILEPSY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (202)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	14722918, 15248097, 15921228, 16724181, 22585566, 28150386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	15921228, 16724181, 21426321, 25074490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	24528893, 29984154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Athetoid cerebral palsy	Athetoid cerebral palsy	BEFREE	17664401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	19747203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17044103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17044103, 26337422, 27798109		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17044103		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	17044103	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	29984154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	17044103, 19738637, 19747203, 21108397, 21426321, 26344814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	19747203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	19747203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	16215456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	8826457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17480217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	17480217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	20384723, 24528893, 27798109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus callosum agenesis-abnormal genitalia syndrome	Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	BEFREE	15021241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	14722918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	21426321, 23583054, 34087996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26856418, 28215845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	26918704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10398246, 11971879, 12379852, 14722918, 1605226, 17668384, 19439424, 20506206, 22252899, 23246292, 25044608, 27781032, 28150386, 3177452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	11889467, 18468866, 18823727, 19734009, 21204215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	17668384, 19738637, 19747203, 20384723, 21108397, 21426321, 22709267, 29778428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	CLINGEN_DG	18462864, 19439424, 23583054, 25951140, 29056246, 29190809, 29655203, 29924869		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	20506206, 22196487		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	32519823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	21108397, 21426321, 22196487, 26344814, 29961512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29275192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11889467, 12689693, 15248097, 15376319, 16015284, 16806828, 17044103, 18799476, 19738637, 21204215, 21426321, 22252899, 23039062, 23246292, 23583054 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	17044103, 19738637, 21426321, 23583054, 27966542, 29190809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	21108397, 21482751, 23039062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36571524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINVAR_DG	11889467, 11971879, 12874418, 15533998, 15726411, 16235064, 17331656, 17490853, 17664401, 19507262, 19606478, 20506206, 21204215, 22922607, 23246292, 23583054, 24781210, 26029707 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	UNIPROT_DG	11889467, 12376946, 27864847		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	12379852		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINGEN_DG	18462864, 19439424, 23583054, 25951140, 29056246, 29190809, 29655203, 29924869		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	19734009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	29275192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	BEFREE	26344814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	17613295, 18462864, 22922607, 23583054, 25074490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	BEFREE	20384723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	Pubtator	20384723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly and Abnormal Genitalia	Hydranencephaly And Abnormal Genitalia	GENOMICS_ENGLAND_DG	14722918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly and Abnormal Genitalia	Hydranencephaly And Abnormal Genitalia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly and Abnormal Genitalia	Hydranencephaly And Abnormal Genitalia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	LHGDN	18975239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile epileptic-dyskinetic encephalopathy	Epileptic-Dyskinetic Encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	19734009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	11889467, 15533998, 15689447, 16235064, 16806828, 17664401, 18462864, 18823727, 19232548, 23246292, 24236044, 26138355, 26306640, 27798109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11889467, 12689693, 15376319, 15533998, 15689447, 15921244, 16078051, 16235064, 16523516, 16650978, 16762829, 16845484, 17044103, 17613295, 17641262 View all (19 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	11971879, 12142061, 12736870, 15533998, 16845484, 17480217, 18975239, 19085879		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	15689447, 17480217, 17668384, 19738637, 24528893, 26306640, 29984154, 34452636	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Learning Disabilities	Learning disorders	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	15248097, 15376319, 16806828, 18669490, 19738637, 20384723, 22252899, 23583063, 28103279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	LHGDN	18975239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	19738637, 20384723, 29671837, 29984154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly, X-Linked, 2	Lissencephaly, X-Linked	UNIPROT_DG	12379852, 14722918		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 2	Lissencephaly, X-Linked	GENOMICS_ENGLAND_DG	12379852		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 2	Lissencephaly, X-Linked	ORPHANET_DG	12379852, 12874405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 2	Lissencephaly, X-Linked	BEFREE	17221017, 19738637, 21426321, 26306640		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 2	Lissencephaly, X-Linked	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 2	Lissencephaly, X-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	29953253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	28953922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	12874405, 23583063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11889467, 12689693, 15376319, 15533998, 15689447, 15921244, 1605216, 16078051, 16235064, 16523516, 16650978, 16762829, 16845484, 17044103, 17613295 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11889467, 11971879, 12376938, 12640086, 12874405, 15200506, 15850492, 16078051, 16235064, 16523516, 16762829, 17044103, 17082467, 17490853, 17613295, 17641262, 18835247, 9001795 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	16523516, 17082467, 17613295, 17641262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	10398243, 16235064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	15850492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 19	Mental Retardation, X-Linked	BEFREE	8826457		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)	Mental retardation	CLINVAR_DG	11889467, 11971879, 12874418, 15533998, 15726411, 16235064, 17331656, 17490853, 17664401, 19507262, 19606478, 20506206, 21204215, 22922607, 23246292, 23583054, 24781210, 26029707 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)	Mental retardation	UNIPROT_DG	11971879		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)	Mental retardation	GENOMICS_ENGLAND_DG	12379852		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	12736870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	18468866, 19747203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	LHGDN	18468866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	19747203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	12177367, 18975239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12376946, 17641262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16845484, 17480217, 18799476, 20538404, 22252899, 22642246, 24236044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19747203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18462864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27798109, 28103279, 29659809, 31324350, 31691806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	31846235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33849943, 35227293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	26633894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Partington syndrome	Partington Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	ORPHANET_DG	11889467		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	GENOMICS_ENGLAND_DG	12379852		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	BEFREE	16235064, 20538404, 24727054, 8826457		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	22585566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	22585566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proud Syndrome	Corpus callosum agenesis-abnormal genitalia syndrome	GENOMICS_ENGLAND_DG	12379852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proud Syndrome	Corpus callosum agenesis-abnormal genitalia syndrome	ORPHANET_DG	14722918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proud Syndrome	Corpus callosum agenesis-abnormal genitalia syndrome	UNIPROT_DG	14722918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proud Syndrome	Corpus callosum agenesis-abnormal genitalia syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proud Syndrome	Corpus callosum agenesis-abnormal genitalia syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	23622180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	21426321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31175998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	17668384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	16015284, 18462864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	29275192		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	17664401, 19232548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	12736870, 15689447, 17668384, 19738637, 20384723, 26306640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	12376946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	23583063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	25931474	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	11889467, 15533998, 15689447, 15921244, 16015284, 16235064, 16806828, 17664401, 17668384, 18462864, 18823727, 19232548, 20538404, 23246292, 24236044 View all (4 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West Syndrome	West Syndrome	LHGDN	12736870, 12874418, 15533998, 15726411, 17613295, 17664401, 18468866, 18975239		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West Syndrome	West Syndrome	ORPHANET_DG	20506206		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked infantile spasms	Spasms X-Linked	BEFREE	12177367, 15021241, 17641262, 17668384, 18468866, 19738637, 19747203, 20384723, 21108397, 21204226, 21426321, 21967765, 22709267, 28602636, 29778428, 29961512 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	ORPHANET_DG	17664401		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINGEN_DG	18462864, 19439424, 23583054, 25951140, 29056246, 29190809, 29655203, 29924869		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Lissencephaly	Lissencephaly, X-Linked	BEFREE	12874405, 14722918, 15248097, 15248105, 15921228, 15921244, 16235064, 16724181, 18458920, 20538404, 24236044		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked lissencephaly with abnormal genitalia	Lissencephaly, X-Linked	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked spasticity-intellectual disability-epilepsy syndrome	Spasticity-Intellectual Disability-Epilepsy Syndrome, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

ARX (aristaless related homeobox)