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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26053
Gene name	Activator of transcription and developmental regulator AUTS2
Gene symbol	AUTS2
Synonyms (NCBI Gene)	FBRSL2MRD26
Chromosome	7
Chromosome location	7q11.22
Summary	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs767529359	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant
rs775225727	C>A,G,T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, missense variant
rs864321694	AA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs869312878	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041609	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886041671	->C	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant
rs1057517708	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1057518198	T>-	Pathogenic	Genic downstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057518986	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1064794696	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1064795490	C>-	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554401434	->GCCCC	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554480487	A>T	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs1554480537	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs1554481395	CTCA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554481713	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554481763	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1562957809	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1563183444	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1563183469	A>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1563183492	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1585645384	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1585645641	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1585646282	->CC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1585653028	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1585653240	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1585667374	TT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1585694219	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1585701007	G>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030951	hsa-miR-21-5p	Microarray	19253296
MIRT046611	hsa-miR-222-3p	CLASH	23622248
MIRT441135	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441135	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT812212	hsa-miR-3653	CLIP-seq
MIRT812213	hsa-miR-3658	CLIP-seq
MIRT812214	hsa-miR-450b-5p	CLIP-seq
MIRT812215	hsa-miR-455-3p	CLIP-seq
MIRT812216	hsa-miR-4712-5p	CLIP-seq
MIRT812217	hsa-miR-485-3p	CLIP-seq
MIRT812218	hsa-miR-518a-5p	CLIP-seq
MIRT812219	hsa-miR-527	CLIP-seq
MIRT812220	hsa-miR-582-5p	CLIP-seq
MIRT812221	hsa-miR-770-5p	CLIP-seq
MIRT812222	hsa-miR-3121-3p	CLIP-seq
MIRT812223	hsa-miR-4328	CLIP-seq
MIRT1921527	hsa-miR-129-5p	CLIP-seq
MIRT812214	hsa-miR-450b-5p	CLIP-seq
MIRT1921528	hsa-miR-507	CLIP-seq
MIRT812218	hsa-miR-518a-5p	CLIP-seq
MIRT812219	hsa-miR-527	CLIP-seq
MIRT1921529	hsa-miR-557	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT1940225	hsa-miR-216b	CLIP-seq
MIRT1940226	hsa-miR-3137	CLIP-seq
MIRT1940227	hsa-miR-4703-3p	CLIP-seq
MIRT1940228	hsa-miR-4731-3p	CLIP-seq
MIRT1940229	hsa-miR-4753-3p	CLIP-seq
MIRT1940230	hsa-miR-4801	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179110	hsa-miR-4448	CLIP-seq
MIRT2179111	hsa-miR-4694-3p	CLIP-seq
MIRT2179112	hsa-miR-4796-5p	CLIP-seq
MIRT2179113	hsa-miR-1193	CLIP-seq
MIRT2179114	hsa-miR-1271	CLIP-seq
MIRT2179115	hsa-miR-1280	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2179116	hsa-miR-182	CLIP-seq
MIRT2179117	hsa-miR-183	CLIP-seq
MIRT1940225	hsa-miR-216b	CLIP-seq
MIRT2179118	hsa-miR-23a	CLIP-seq
MIRT2179119	hsa-miR-23b	CLIP-seq
MIRT2179120	hsa-miR-23c	CLIP-seq
MIRT2179121	hsa-miR-3134	CLIP-seq
MIRT2179122	hsa-miR-3177-5p	CLIP-seq
MIRT2179123	hsa-miR-323-3p	CLIP-seq
MIRT2179124	hsa-miR-338-5p	CLIP-seq
MIRT2179125	hsa-miR-3941	CLIP-seq
MIRT2179126	hsa-miR-4642	CLIP-seq
MIRT2179127	hsa-miR-466	CLIP-seq
MIRT2179128	hsa-miR-4672	CLIP-seq
MIRT2179111	hsa-miR-4694-3p	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2179130	hsa-miR-4713-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT1940228	hsa-miR-4731-3p	CLIP-seq
MIRT2179112	hsa-miR-4796-5p	CLIP-seq
MIRT1940230	hsa-miR-4801	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179132	hsa-miR-873	CLIP-seq
MIRT2179133	hsa-miR-935	CLIP-seq
MIRT2179134	hsa-miR-96	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2482580	hsa-miR-1178	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2482581	hsa-miR-3909	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179133	hsa-miR-935	CLIP-seq
MIRT2675786	hsa-miR-1247	CLIP-seq
MIRT2179114	hsa-miR-1271	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2179116	hsa-miR-182	CLIP-seq
MIRT2675787	hsa-miR-331-3p	CLIP-seq
MIRT2675788	hsa-miR-3620	CLIP-seq
MIRT2179126	hsa-miR-4642	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2675789	hsa-miR-4727-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT2675790	hsa-miR-4769-3p	CLIP-seq
MIRT2675791	hsa-miR-5096	CLIP-seq
MIRT2675792	hsa-miR-544	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179134	hsa-miR-96	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	ISS
GO:0003682	Function	Chromatin binding	IDA	25519132
GO:0005515	Function	Protein binding	IPI	25519132, 27705803, 28514442, 32296183, 33961781, 34637754
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	ISS
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0035022	Process	Positive regulation of Rac protein signal transduction	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	25519132
GO:0048675	Process	Axon extension	ISS
GO:0097484	Process	Dendrite extension	ISS

MIM	HGNC	e!Ensembl
607270	14262	ENSG00000158321

Q8WXX7

Protein name

Autism susceptibility gene 2 protein

Protein function

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remod

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15336	Auts2	645 → 857	Autism susceptibility gene 2 protein	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes. {ECO:0000269|PubMed:12160723, ECO:0000269|PubMed:23332918}.

Sequence

MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNG
KPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVALKPQERVEKRQTP
LTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQN
SCRDSDSESASGESKGFHRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLF
NTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCP
QVAQPIPQPQTEPQLRAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQR
PPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPP
HISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVA
GHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQ
HTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPF
GSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQI
YHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHP
TGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSMFGHKDG
PSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKD
DKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSES
RKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSR
EAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLA
SMPMTVGVTGIHPMNSISSLDRTRMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYR
ELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLSVDPR
REHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPT
AGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRERPPSHTLKDIEAR

Sequence length

1259

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2484638564	RCV003127400	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder due to AUTS2 deficiency	Pathogenic; Likely pathogenic	rs1792258600, rs1383001370, rs2129067294, rs2129556993, rs2129540475, rs2129540473, rs2129559195, rs2129558877, rs2484905405, rs2484684324, rs2484642297, rs864321694, rs869312878, rs1348011365, rs2484637496 View all (24 more)	RCV001336298 RCV001788502 RCV001528177 RCV003336430 RCV001780715 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AUTS2-related disorder	Likely pathogenic; Pathogenic	rs2484637496, rs2484667150, rs2484683408	RCV003395701 RCV003405760 RCV003408388	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic	rs1563183469	RCV001257949	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic	rs1563183469	RCV000779651	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs2484634380	RCV003128035	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs1057517708, rs1789811451	RCV001260885 RCV001249492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 57	Likely pathogenic; Pathogenic	rs1562957809	RCV002227495	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple congenital anomalies	Likely pathogenic	rs1563183469	RCV000779651	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pierre Robin-like syndrome	Likely pathogenic	rs1057518986	RCV000415119	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (48)

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.
15q11q13 microduplication syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
concomitant exotropia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPLICATION 15Q11-Q13 SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (124)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	22578776, 27322685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33562463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	40419990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	39953909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	27396555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	27396555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23349641		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	22872102, 36864756	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder due to AUTS2 deficiency	Autism Spectrum Disorder	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism spectrum disorder due to AUTS2 deficiency	Autism Spectrum Disorder	BEFREE	25205402, 27075013, 27531620		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24459036, 25851617, 31505389		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12160723, 17211639, 23332918, 23349641, 24008202, 24265791, 24776741, 25347278, 26545289, 30953002		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19546859, 22521361, 23575222, 24265791, 24776741, 25205402, 25347278, 30190612, 31505389, 37948839, 39953909	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	19727120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	35802027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	20502679		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31686349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	34282735, 40419990	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	ORPHANET_DG	22578776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29215599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36499607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	18697940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28577753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38274809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	33562463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	39953909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	23332918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	34282735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20502679, 22872102, 31505389, 33562463, 37816306, 39174599	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	27396555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	23332918, 24459036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	20502679		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	20502679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25851617, 26545289, 31505389		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	39174599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	29377512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29377512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	37816306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36864756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29215599	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17211639, 23332918, 24265791, 24459036, 24776741, 26333717, 26545289, 27075013		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	24265791, 35802027, 37816306, 37948839, 39174599	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Neoplasms	Kidney neoplasm	Pubtator	29215599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	33562463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	27322685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	26348319		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maternal hypertension	Maternal hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36273157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17211639		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26	Mental retardation	ORPHANET_DG	23332918		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23332918, 30953002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35802027, 37948839, 39174599, 39953909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motion Sickness	Motion Sickness	GWASCAT_DG	25628336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	31686349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35802027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23349641, 29042895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	23332918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35802027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22521361, 24459036, 25851617		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periauricular skin pits	Periauricular skin pits	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25851617, 31505389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	ORPHANET_DG	22578776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	22578776, 27322685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28977998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19567891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Receptive language delay	Receptive language delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Repetitive compulsive behavior	Repetitive compulsive behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retrognathia	Retrognathia	Pubtator	39953909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19546859, 25347278, 34282735	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22832608, 25347278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	25347278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22872102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	33562463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37733241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	19546859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	19727120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	24265791, 32077592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AUTS2 (activator of transcription and developmental regulator AUTS2)