ASXL3 (ASXL transcriptional regulator 3)

Gene

• Entrez ID: 80816
• Gene name: ASXL transcriptional regulator 3
• Gene symbol: ASXL3
• Synonyms (NCBI Gene): BRPS, KIAA1713
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcrip

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs190659120	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs376997378	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs377619533	C>A,T	Not-provided, likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs587777061	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777062	C>T	Pathogenic	Stop gained, coding sequence variant
rs747712363	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762650572	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs764053964	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045317	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs868044680	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs869312696	C>A	Pathogenic	Coding sequence variant, stop gained
rs886039650	G>T	Pathogenic	Coding sequence variant, stop gained
rs886041652	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041753	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886041785	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041846	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043487	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519005	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519498	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057524831	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1060499602	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1064793765	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064796742	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796972	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307640	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1179499890	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1204482456	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555741188	->GAAA	Pathogenic	Frameshift variant, coding sequence variant
rs1555742010	ACAACAG>TCACAT	Pathogenic	Frameshift variant, coding sequence variant
rs1555742087	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742148	->T	Pathogenic	Stop gained, coding sequence variant
rs1555742167	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555742212	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742232	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555742333	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555742500	GACA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs1555743003	G>A	Pathogenic	Splice donor variant
rs1555743005	T>A	Likely-pathogenic	Splice donor variant
rs1555743845	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555743954	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555744039	GTCTTGATTCCCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744086	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555744175	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555744178	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744217	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744282	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1555744396	->ACCAG	Pathogenic	Frameshift variant, coding sequence variant
rs1555744989	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555745616	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568359734	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568359816	T>A	Pathogenic	Coding sequence variant, stop gained
rs1568359887	G>T	Pathogenic	Coding sequence variant, stop gained
rs1568360291	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568365439	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1568369744	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1599364162	AA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1599562180	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563269	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563619	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563995	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599564118	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599565958	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1599566942	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599570895	->CTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1599571406	GT>-	Pathogenic	Coding sequence variant, stop gained
rs1599571722	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1599572151	->CTTG	Pathogenic	Coding sequence variant, frameshift variant
rs1599572831	AT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1599572974	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599573656	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599573759	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599574018	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599575096	TCTA>-	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024184	hsa-miR-221-3p	Sequencing	20371350
MIRT029464	hsa-miR-26b-5p	Microarray	19088304
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624649	hsa-miR-708-3p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT460736	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT460735	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT460734	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460733	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460732	hsa-miR-4779	PAR-CLIP	23592263
MIRT460731	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460730	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT460729	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT460728	hsa-miR-4533	PAR-CLIP	23592263
MIRT460727	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT460726	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT460725	hsa-miR-4271	PAR-CLIP	23592263
MIRT460724	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT460723	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624649	hsa-miR-708-3p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT460736	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT460735	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT460734	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460733	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460732	hsa-miR-4779	PAR-CLIP	23592263
MIRT460731	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460730	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT460729	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT460728	hsa-miR-4533	PAR-CLIP	23592263
MIRT460727	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT460726	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT460725	hsa-miR-4271	PAR-CLIP	23592263
MIRT460724	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT460723	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT1921524	hsa-miR-1182	CLIP-seq
MIRT1921525	hsa-miR-193a-5p	CLIP-seq
MIRT1921526	hsa-miR-607	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0035517	Component	PR-DUB complex	IBA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051055	Process	Negative regulation of lipid biosynthetic process	IDA	25450400

Other IDs

• MIM: 615115
• HGNC: 29357
• e!Ensembl: ENSG00000141431

Protein

• UniProt ID: Q9C0F0
• Protein name: Putative Polycomb group protein ASXL3 (Additional sex combs-like protein 3)
• Protein function: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05066	HARE-HTH	10 → 81	HB1, ASXL, restriction endonuclease HTH domain	Family
  PF13919	ASXH	235 → 360	Asx homology domain	Domain
  PF13922	PHD_3	2183 → 2246	PHD domain of transcriptional enhancer, Asx	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor. {ECO:0000269|PubMed:15138607}.
• Sequence:

  MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHT
  NTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGTDMAEANAHGEENGVC
  SKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVP
  RVVLTPLKVSDEQSDSPSGSESKNGEADSSDKEMKHGQKSPTGKQTSQHLKRLKKSGLGH
  LKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGIL
  RLSTSALNNEFFAYAAQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGE
  KLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
  TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEA
  ESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSESPQEEMTVVIDQLEVC
  DSLIPSTSSMTHVSDTEHKESETAVETSTPKIKTGSSSLEGQFPNEGIAIDMELQSDPEE
  QLSENACISETSFSSESPEGACTSLPSPGGETQSTSEESCTPASLETTFCSEVSSTENTD
  KYNQRNSTDENFHASLMSEISPISTSPEISEASLMSNLPLTSEASPVSNLPLTSETSPMS
  DLPLTSETSSVSSMLLTSETTFVSSLPLPSETSPISNSSINERMAHQQRKSPSVSEEPLS
  PQKDESSATAKPLGENLTSQQKNLSNTPEPIIMSSSSIAPEAFPSEDLHNKTLSQQTCKS
  HVDTEKPYPASIPELASTEMIKVKNHSVLQRTEKKVLPSPLELSVFSEGTDNKGNELPSA
  KLQDKQYISSVDKAPFSEGSRNKTHKQGSTQSRLETSHTSKSSEPSKSPDGIRNESRDSE
  ISKRKTAEQHSFGICKEKRARIEDDQSTRNISSSSPPEKEQPPREEPRVPPLKIQLSKIG
  PPFIIKSQPVSKPESRASTSTSVSGGRNTGARTLADIKARAQQARAQREAAAAAAVAAAA
  SIVSGAMGSPGEGGKTRTLAHIKEQTKAKLFAKHQARAHLFQTSKETRLPPPLSSKEGPP
  NLEVSSTPETKMEGSTGVIIVNPNCRSPSNKSAHLRETTTVLQQSLNPSKLPETATDLSV
  HSSDENIPVSHLSEKIVSSTSSENSSVPMLFNKNSVPVSVCSTAISGAIKEHPFVSSVDK
  SSVLMSVDSANTTISACNISMLKTIQGTDTPCIAIIPKCIESTPISATTEGSSISSSMDD
  KQLLISSSSASNLVSTQYTSVPTPSIGNNLPNLSTSSVLIPPMGINNRFPSEKIAIPGSE
  EQATVSMGTTVRAALSCSDSVAVTDSLVAHPTVAMFTGNMLTINSYDSPPKLSAESLDKN
  SGPRNRADNSGKPQQPPGGFAPAAINRSIPCKVIVDHSTTLTSSLSLTVSVESSEASLDL
  QGRPVRTEASVQPVACPQVSVISRPEPVANEGIDHSSTFIAASAAKQDSKTLPATCTSLR
  ELPLVPDKLNEPTAPSHNFAEQARGPAPFKSEADTTCSNQYNPSNRICWNDDGMRSTGQP
  LVTHSGSSKQKEYLEQSCPKAIKTEHANYLNVSELHPRNLVTNVALPVKSELHEADKGFR
  MDTEDFPGPELPPPAAEGASSVQQTQNMKASTSSPMEEAISLATDALKRVPGAGSSGCRL
  SSVEANNPLVTQLLQGNLPLEKVLPQPRLGAKLEINRLPLPLQTTSVGKTAPERNVEIPP
  SSPNPDGKGYLAGTLAPLQMRKRENHPKKRVARTVGEHTQVKCEPGKLLVEPDVKGVPCV
  ISSGISQLGHSQPFKQEWLNKHSMQNRIVHSPEVKQQKRLLPSCSFQQNLFHVDKNGGFH
  TDAGTSHRQQFYQMPVAARGPIPTAALLQASSKTPVGCNAFAFNRHLEQKGLGEVSLSSA
  PHQLRLANMLSPNMPMKEGDEVGGTAHTMPNKALVHPPPPPPPPPPPPLALPPPPPPPPP
  LPPPLPNAEVPSDQKQPPVTMETTKRLSWPQSTGICSNIKSEPLSFEEGLSSSCELGMKQ
  VSYDQNEMKEQLKAFALKSADFSSYLLSEPQKPFTQLAAQKMQVQQQQQLCGNYPTIHFG
  STSFKRAASAIEKSIGILGSGSNPATGLSGQNAQMPVQNFADSSNADELELKCSCRLKAM
  IVCKGCGAFCHDDCIGPSKLCVACLVVR

• Sequence length: 2248

Pathways

KEGG:

Polycomb repressive complex

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Absent speech	Likely pathogenic; Pathogenic	rs377619533	RCV001003997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASXL3-related disorder	Pathogenic; Likely pathogenic	rs1302254196, rs2510918585, rs1555743003, rs1555744178	RCV004728986 RCV003924331 RCV003953102 RCV004748866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior	Likely pathogenic; Pathogenic	rs1599573759	RCV001003998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs552703360, rs2510928397	RCV003127456 RCV003127457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased activity of mitochondrial complex I	Likely pathogenic; Pathogenic	rs377619533	RCV001003997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased head circumference	Likely pathogenic; Pathogenic	rs1599573759	RCV001003998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastrostomy tube feeding in infancy	Likely pathogenic; Pathogenic	rs377619533	RCV001003997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Likely pathogenic; Pathogenic	rs377619533	RCV001003997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs377619533, rs1599573759	RCV001003997 RCV001003998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
intellectual deficiency	Pathogenic	rs1057519005	RCV000415197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1060499602, rs1555744282, rs1599565958, rs2067695073	RCV005625623 RCV001249488 RCV005626298 RCV005626381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language retardation	Pathogenic	rs1057519005	RCV000415197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1599571722	RCV000850445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2145424188, rs1204482456	RCV001374960 RCV003389054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare syndromic intellectual disability	Likely pathogenic	rs2510925319	RCV004018278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	Pathogenic; Likely pathogenic	rs2067595880, rs2067688726, rs2145433524, rs2067642748, rs2145426865, rs2145423903, rs2145413424, rs2067636699, rs2145423153, rs2145256753, rs2145411718, rs2145413895, rs2145428243, rs2145412175, rs1004855056, rs2145425479, rs2145413226, rs2145414972, rs1555743003, rs2145429823, rs1302254196, rs2145424341, rs2145414409, rs2145425648, rs2145432318, rs542209922, rs2510935444, rs2510929819, rs2510924694, rs2510926476, rs2510926754, rs2510916552, rs768312159, rs2510928216, rs797045317, rs869312696, rs2510907457, rs2510918263, rs2510928397, rs2510917105, rs2510925548, rs2511301336, rs2510916449, rs2510929049, rs868044680, rs886041753, rs886041846, rs2510916984, rs2510924026, rs2510916589, rs2510931646, rs2510920197, rs2510917065, rs2510919512, rs2510915835, rs2510916787, rs2510918753, rs2510915938, rs2510918489, rs1463563881, rs2510920972, rs2510916922, rs2510916863, rs2510930101, rs1057519005, rs1057519498, rs1060499602, rs1064793765, rs1085307640, rs377619533, rs1131691668, rs1555742500, rs1555743954, rs1555744175, rs1204482456, rs1555745616, rs1555744396, rs1555742333, rs1555742087, rs1555744282, rs1555742167, rs1555744086, rs1555744178, rs1555744039, rs1568359734, rs1179499890, rs1568359816, rs1599563995, rs1599564118, rs1599570895, rs587777061, rs587777062, rs1555742148, rs1599566942, rs1599571406, rs1599572151, rs1599562180, rs1599572831, rs1599572974, rs2067707522, rs1555743005, rs2067703001, rs2067600337, rs2067643753, rs2067603110, rs2067694046, rs1282045990, rs2067589435, rs2067597244, rs1599563269, rs2067607599, rs2067694467, rs2067694639, rs2067695956, rs2067703753, rs2067717504, rs2067717913, rs2067723272, rs2067741671, rs2067695073	RCV001333267 RCV001333268 RCV001527607 RCV002072044 RCV005256822 RCV001706789 RCV001706896 RCV001723518 RCV001754564 RCV001771799 RCV001775277 RCV001775304 RCV001775347 RCV001775368 RCV001775417 RCV001784938 RCV001784944 RCV001780655 RCV001795589 RCV001837193 RCV005256835 RCV002226925 RCV002227682 RCV002248973 RCV002471271 RCV002283785 RCV002283950 RCV002287629 RCV002290066 RCV005869793 RCV002463976 RCV002468728 RCV002510702 RCV002795898 RCV000193468 RCV000209910 RCV002789968 RCV002810045 RCV003491320 RCV003127459 RCV003140628 RCV003130454 RCV003148565 RCV003152980 RCV000263069 RCV001265444 RCV001265229 RCV003326684 RCV003231058 RCV003307368 RCV003315172 RCV003328138 RCV003581942 RCV003883282 RCV003883316 RCV003883357 RCV003885408 RCV003885428 RCV003988915 RCV003991161 RCV004018034 RCV004555071 RCV004595294 RCV004595380 RCV004776436 RCV000416511 RCV000477964 RCV000624921 RCV001265446 RCV000509186 RCV000509007 RCV000059323 RCV001265431 RCV001265365 RCV001265433 RCV001265441 RCV001265450 RCV001265366 RCV001265364 RCV000624922 RCV000624923 RCV000624924 RCV000625988 RCV001265438 RCV000660464 RCV000678294 RCV000735242 RCV001265434 RCV000785921 RCV000990085 RCV000990086 RCV000059321 RCV000059322 RCV000059324 RCV000995700 RCV000995701 RCV000995702 RCV005256735 RCV001265440 RCV003223416 RCV001196600 RCV001197846 RCV001251116 RCV001252417 RCV001263212 RCV001260910 RCV001261159 RCV001265437 RCV001265445 RCV001265443 RCV001265432 RCV001265449 RCV001265447 RCV001265448 RCV001265435 RCV001265451 RCV001265436 RCV001265363 RCV001265230 RCV001265367 RCV005634013	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sleep disturbance	Likely pathogenic; Pathogenic	rs1599573759	RCV001003998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Syndromic intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular septal defect	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31558162		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33820833	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG	27075689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29428674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	35172777	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
BAINBRIDGE-ROPERS SYNDROME	Bainbridge-Ropers Syndrome	GENOMICS_ENGLAND_DG	23383720, 25294932		★☆☆☆☆ Found in Text Mining only
BAINBRIDGE-ROPERS SYNDROME	Bainbridge-Ropers Syndrome	ORPHANET_DG	23383720		★☆☆☆☆ Found in Text Mining only
Bainbridge-Ropers syndrome	Bainbridge-Ropers Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
BAINBRIDGE-ROPERS SYNDROME	Bainbridge-Ropers Syndrome	BEFREE	26506440, 26647312, 27075689, 29367179, 31180560, 31638014		★☆☆☆☆ Found in Text Mining only
BAINBRIDGE-ROPERS SYNDROME	Bainbridge-Ropers Syndrome	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
BAINBRIDGE-ROPERS SYNDROME	Bainbridge-Ropers Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring-Opitz syndrome	BEFREE	26506440, 27075689, 27901041		★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	27901041, 29305346	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33820833	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23736028		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	27901041	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	27901041		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	27693232	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	24044690	Associate	★☆☆☆☆ Found in Text Mining only
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	BEFREE	26506440, 27075689		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24044690, 29305346, 34086428, 34886823, 35172777	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21706002, 23383720, 24044690, 25363760, 26647312, 27075689, 27901041, 28100473, 28955728		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	27693232		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	27075689		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24044690, 26506440, 31180560		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glossoptosis	Glossoptosis	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24044690	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	27901041, 34436830, 36177608	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26647312, 27693232, 27901041		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26647312, 27901041, 36177608	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	26647312	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27462774	Associate	★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	27693232		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23736028		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15138607, 27527698, 28935813		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23736028		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25393105	Associate	★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24044690, 31180560		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	24044690	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	21706002, 23383720, 24044690, 25363760, 26647312, 27075689, 27901041, 28100473, 28955728		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15138607		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	29982334		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	36611251	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	BEFREE	29316359		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG	27075689		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34646089	Stimulate	★☆☆☆☆ Found in Text Mining only
Recurrent hand flapping	Hand Flapping	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35172777	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27693232		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	27075689		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28935813		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32669118, 35194152	Associate	★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	26647312		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	27075689		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Strabismus	Strabismus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Synophrys	Synophrys	BEFREE	27901041		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	26192917		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	28935813		★☆☆☆☆ Found in Text Mining only