CHD8 (chromodomain helicase DNA binding protein 8)

Gene

• Entrez ID: 57680
• Gene name: Chromodomain helicase DNA binding protein 8
• Gene symbol: CHD8
• Synonyms (NCBI Gene): AUTS18, HELSNF1, IDDAM
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61752839	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs111250264	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs181227407	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377595194	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397514551	G>A	Risk-factor	Coding sequence variant, stop gained
rs397514552	G>A	Risk-factor	Coding sequence variant, stop gained
rs556977377	G>A,C	Pathogenic	Missense variant, intron variant, stop gained, coding sequence variant
rs757502536	TTC>-,TTCTTC	Conflicting-interpretations-of-pathogenicity	Inframe deletion, inframe insertion, coding sequence variant
rs766317271	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs776631057	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs794727436	C>T	Likely-pathogenic	Splice donor variant
rs797044853	ACAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224857	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039692	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039725	CTATGAAGA>-	Pathogenic	Intron variant, splice acceptor variant
rs886041884	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886041968	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043086	->A	Pathogenic	Coding sequence variant, frameshift variant
rs991738444	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1057518651	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523712	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524339	T>C	Pathogenic	Splice acceptor variant
rs1057524677	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1064795655	C>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1085307794	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1131691548	G>A	Pathogenic	Coding sequence variant, stop gained
rs1135401763	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1157888951	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1331026006	G>A,C	Risk-factor	Stop gained, missense variant, coding sequence variant, intron variant
rs1454466097	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555314174	A>T	Likely-pathogenic	Splice donor variant
rs1555314186	CTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555314317	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555314378	->T	Pathogenic	Stop gained, coding sequence variant
rs1555314582	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555314736	C>T	Likely-pathogenic	Splice donor variant
rs1555314788	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555314895	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555315221	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555315488	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555315679	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555316323	A>C	Pathogenic	Stop gained, coding sequence variant
rs1555318001	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555318633	CTGA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555318675	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555318734	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1566427770	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566446604	GAGAGCTTGGCAGTCCA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1594331875	AAGTACTTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594340060	C>-	Likely-pathogenic	Splice donor variant
rs1594344154	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594344233	T>C	Risk-factor	Splice acceptor variant
rs1594344768	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594349020	ACG>TACT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594351052	GG>A	Pathogenic	Frameshift variant, coding sequence variant
rs1594352987	C>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030570	hsa-miR-24-3p	Microarray	19748357
MIRT039940	hsa-miR-615-3p	CLASH	23622248
MIRT038139	hsa-miR-423-5p	CLASH	23622248
MIRT037268	hsa-miR-877-5p	CLASH	23622248
MIRT036108	hsa-miR-1296-5p	CLASH	23622248
MIRT442791	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT442790	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT442789	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT442787	hsa-miR-3606-3p	PAR-CLIP	22100165
MIRT442788	hsa-miR-513a-3p	PAR-CLIP	22100165
MIRT442786	hsa-miR-513c-3p	PAR-CLIP	22100165
MIRT442784	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT442785	hsa-miR-4480	PAR-CLIP	22100165
MIRT442783	hsa-miR-4477a	PAR-CLIP	22100165
MIRT440949	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440949	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT442791	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT442790	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT442789	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT442787	hsa-miR-3606-3p	PAR-CLIP	22100165
MIRT442788	hsa-miR-513a-3p	PAR-CLIP	22100165
MIRT442786	hsa-miR-513c-3p	PAR-CLIP	22100165
MIRT442784	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT442785	hsa-miR-4480	PAR-CLIP	22100165
MIRT442783	hsa-miR-4477a	PAR-CLIP	22100165
MIRT889413	hsa-miR-1289	CLIP-seq
MIRT889414	hsa-miR-2355-5p	CLIP-seq
MIRT889415	hsa-miR-3198	CLIP-seq
MIRT889416	hsa-miR-3690	CLIP-seq
MIRT889417	hsa-miR-378	CLIP-seq
MIRT889418	hsa-miR-378b	CLIP-seq
MIRT889419	hsa-miR-378c	CLIP-seq
MIRT889420	hsa-miR-378d	CLIP-seq
MIRT889421	hsa-miR-378e	CLIP-seq
MIRT889422	hsa-miR-378f	CLIP-seq
MIRT889423	hsa-miR-378h	CLIP-seq
MIRT889424	hsa-miR-378i	CLIP-seq
MIRT889425	hsa-miR-422a	CLIP-seq
MIRT889426	hsa-miR-4254	CLIP-seq
MIRT889427	hsa-miR-4286	CLIP-seq
MIRT889428	hsa-miR-4294	CLIP-seq
MIRT889429	hsa-miR-4309	CLIP-seq
MIRT889430	hsa-miR-617	CLIP-seq
MIRT1963581	hsa-miR-1273g	CLIP-seq
MIRT889413	hsa-miR-1289	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963583	hsa-miR-1321	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT889414	hsa-miR-2355-5p	CLIP-seq
MIRT1963586	hsa-miR-3120-3p	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963589	hsa-miR-3162-5p	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT889415	hsa-miR-3198	CLIP-seq
MIRT1963591	hsa-miR-3646	CLIP-seq
MIRT1963592	hsa-miR-3647-3p	CLIP-seq
MIRT1963593	hsa-miR-3689d	CLIP-seq
MIRT889416	hsa-miR-3690	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT889417	hsa-miR-378	CLIP-seq
MIRT889418	hsa-miR-378b	CLIP-seq
MIRT889419	hsa-miR-378c	CLIP-seq
MIRT889420	hsa-miR-378d	CLIP-seq
MIRT889421	hsa-miR-378e	CLIP-seq
MIRT889422	hsa-miR-378f	CLIP-seq
MIRT889423	hsa-miR-378h	CLIP-seq
MIRT889424	hsa-miR-378i	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT889425	hsa-miR-422a	CLIP-seq
MIRT889426	hsa-miR-4254	CLIP-seq
MIRT889427	hsa-miR-4286	CLIP-seq
MIRT889428	hsa-miR-4294	CLIP-seq
MIRT889429	hsa-miR-4309	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963598	hsa-miR-4632	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963603	hsa-miR-4728-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963605	hsa-miR-4739	CLIP-seq
MIRT1963606	hsa-miR-4756-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT1963608	hsa-miR-4802-5p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT1963610	hsa-miR-5096	CLIP-seq
MIRT1963611	hsa-miR-569	CLIP-seq
MIRT1963612	hsa-miR-587	CLIP-seq
MIRT889430	hsa-miR-617	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT889414	hsa-miR-2355-5p	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq
MIRT2199975	hsa-miR-3713	CLIP-seq
MIRT2502696	hsa-miR-1226	CLIP-seq
MIRT1963581	hsa-miR-1273g	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963583	hsa-miR-1321	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963589	hsa-miR-3162-5p	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT2502697	hsa-miR-3663-3p	CLIP-seq
MIRT1963593	hsa-miR-3689d	CLIP-seq
MIRT2199975	hsa-miR-3713	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT2502698	hsa-miR-4267	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT2502699	hsa-miR-4725-5p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963603	hsa-miR-4728-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963605	hsa-miR-4739	CLIP-seq
MIRT1963606	hsa-miR-4756-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT2502700	hsa-miR-4792	CLIP-seq
MIRT1963608	hsa-miR-4802-5p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT2502701	hsa-miR-504	CLIP-seq
MIRT1963611	hsa-miR-569	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT2502702	hsa-miR-766	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq
MIRT2502696	hsa-miR-1226	CLIP-seq
MIRT1963581	hsa-miR-1273g	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963583	hsa-miR-1321	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963589	hsa-miR-3162-5p	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT2502697	hsa-miR-3663-3p	CLIP-seq
MIRT1963593	hsa-miR-3689d	CLIP-seq
MIRT2199975	hsa-miR-3713	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT2502698	hsa-miR-4267	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT2502699	hsa-miR-4725-5p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963603	hsa-miR-4728-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963605	hsa-miR-4739	CLIP-seq
MIRT1963606	hsa-miR-4756-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT2502700	hsa-miR-4792	CLIP-seq
MIRT1963608	hsa-miR-4802-5p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT2502701	hsa-miR-504	CLIP-seq
MIRT1963611	hsa-miR-569	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT2502702	hsa-miR-766	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	25294932
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001964	Process	Startle response	IEA
GO:0002039	Function	P53 binding	IEA
GO:0002039	Function	P53 binding	ISS
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	18378692
GO:0003678	Function	DNA helicase activity	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	22083958
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	15960975, 17938208, 18378692, 20085832, 20453063, 23285124, 26816381, 26949739, 36537238
GO:0005524	Function	ATP binding	IDA	18378692
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18378692, 20453063
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	18378692
GO:0006397	Process	MRNA processing	IMP	36537238
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	24998929
GO:0008013	Function	Beta-catenin binding	IDA	18378692, 22083958
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0032991	Component	Protein-containing complex	IDA	18378692
GO:0035176	Process	Social behavior	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18378692
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17938208
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17938208, 25294932
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IMP	17938208
GO:0048565	Process	Digestive tract development	IBA
GO:0048565	Process	Digestive tract development	IEA
GO:0048565	Process	Digestive tract development	IMP	24998929
GO:0060134	Process	Prepulse inhibition	IEA
GO:0071339	Component	MLL1 complex	IBA
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	22083958
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18378692
GO:0140002	Function	Histone H3K4me3 reader activity	IDA	17938208
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	18378692
GO:2000270	Process	Negative regulation of fibroblast apoptotic process	IEA

Other IDs

• MIM: 610528
• HGNC: 20153
• e!Ensembl: ENSG00000100888

Protein

• UniProt ID: Q9HCK8
• Protein name: Chromodomain-helicase-DNA-binding protein 8 (CHD-8) (EC 3.6.4.-) (ATP-dependent helicase CHD8) (Helicase with SNF2 domain 1)
• Protein function: ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppres
• PDB: 2CKA, 2DL6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00385	Chromo	642 → 704	Chromo (CHRromatin Organisation MOdifier) domain	Domain
  PF00385	Chromo	724 → 778	Chromo (CHRromatin Organisation MOdifier) domain	Domain
  PF00176	SNF2_N	785 → 1101	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	1133 → 1247	Helicase conserved C-terminal domain	Family
  PF07533	BRK	2309 → 2352	BRK domain	Domain

• Sequence:

  MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGN
  SSASELVPPPEETAPTELSKESTAPAPESITLHDYTTQPASQEQPAQPVLQTSTPTSGLL
  QVSKSQEILSQGNPFMGVSATAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQA
  QGITSTAQPLVAGTANGGKVTFTKVLTGTPLRPGVSIVSGNTVLAAKVPGNQAAVQRIVQ
  PSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQ
  GHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSS
  QPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVK
  VLSASEVAALSSPASSAPHSGGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNI
  PRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGASKTKGKSKLNTITPVV
  GKKRKRNTSSDNSDVEVMPAQSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEE
  EVDVTGPIKPEPILPEPVQEPDGETLPSMQFFVENPSEEDAAIVDKVLSMRIVKKELPSG
  QYTEAEEFFVKYKNYSYLHCEWATISQLEKDKRIHQKLKRFKTKMAQMRHFFHEDEEPFN
  PDYVEVDRILDESHSIDKDNGEPVIYYLVKWCSLPYEDSTWELKEDVDEGKIREFKRIQS
  RHPELKRVNRPQASAWKKLELSHEYKNRNQLREYQLEGVNWLLFNWYNRQNCILADEMGL
  GKTIQSIAFLQEVYNVGIHGPFLVIAPLSTITNWEREFNTWTEMNTIVYHGSLASRQMIQ
  QYEMYCKDSRGRLIPGAYKFDALITTFEMILSDCPELREIEWRCVIIDEAHRLKNRNCKL
  LDSLKHMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSQFPSESEFLKDFGDLKTEEQVQK
  LQAILKPMMLRRLKEDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLSKGAGHTN
  MPNLLNTMMELRKCCNHPYLINGAEEKILTEFREACHIIPHDFHLQAMVRSAGKLVLIDK
  LLPKLKAGGHKVLIFSQMVRCLDILEDYLIQRRYLYERIDGRVRGNLRQAAIDRFSKPDS
  DRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITR
  NSYEREMFDKASLKLGLDKAVLQSMSGRDGNITGIQQFSKKEIEDLLRKGAYAAIMEEDD
  EGSKFCEEDIDQILLRRTTTITIESEGKGSTFAKASFVASENRTDISLDDPNFWQKWAKK
  ADLDMDLLNSKNNLVIDTPRVRKQTRHFSTLKDDDLVEFSDLESEDDERPRSRRHDRHHA
  YGRTDCFRVEKHLLVYGWGRWRDILSHGRFKRRMTERDVETICRAILVYCLLHYRGDENI
  KGFIWDLISPAENGKTKELQNHSGLSIPVPRGRKGKKVKSQSTFDIHKADWIRKYNPDTL
  FQDESYKKHLKHQCNKVLLRVRMLYYLRQEVIGDQAEKVLGGAIASEIDIWFPVVDQLEV
  PTTWWDSEADKSLLIGVFKHGYEKYNTMRADPALCFLEKAGRPDDKAIAAEHRVLDNFSD
  IVEGVDFDKDCEDPEYKPLQGPPKDQDDEGDPLMMMDEEISVIDGDEAQVTQQPGHLFWP
  PGSALTARLRRLVTAYQRSYKREQMKIEAAERGDRRRRRCEAAFKLKEIARREKQQRWTR
  REQTDFYRVVSTFGVEYDPDTMQFHWDRFRTFARLDKKTDESLTKYFHGFVAMCRQVCRL
  PPAAGDEPPDPNLFIEPITEERASRTLYRIELLRRLREQVLCHPLLEDRLALCQPPGPEL
  PKWWEPVRHDGELLRGAARHGVSQTDCNIMQDPDFSFLAARMNYMQNHQAGAPAPSLSRC
  STPLLHQQYTSRTASPLPLRPDAPVEKSPEETATQVPSLESLTLKLEHEVVARSRPTPQD
  YEMRVSPSDTTPLVSRSVPPVKLEDEDDSDSELDLSKLSPSSSSSSSSSSSSSSTDESED
  EKEEKLTDQSRSKLYDEESLLSLTMSQDGFPNEDGEQMTPELLLLQERQRASEWPKDRVL
  INRIDLVCQAVLSGKWPSSRRSQEMVTGGILGPGNHLLDSPSLTPGEYGDSPVPTPRSSS
  AASMAEEEASAVSTAAAQFTKLRRGMDEKEFTVQIKDEEGLKLTFQKHKLMANGVMGDGH
  PLFHKKKGNRKKLVELEVECMEEPNHLDVDLETRIPVINKVDGTLLVGEDAPRRAELEMW
  LQGHPEFAVDPRFLAYMEDRRKQKWQRCKKNNKAELNCLGMEPVQTANSRNGKKGHHTET
  VFNRVLPGPIAPESSKKRARRMRPDLSKMMALMQGGSTGSLSLHNTFQHSSSGLQSVSSL
  GHSSATSASLPFMPFVMGGAPSSPHVDSSTMLHHHHHHPHPHHHHHHHPGLRAPGYPSSP
  VTTASGTTLRLPPLQPEEDDDEDEEDDDDLSQGYDSSERDFSLIDDPMMPANSDSSEDAD
  D

• Sequence length: 2581

Pathways

KEGG:

Wnt signaling pathway

Reactome:

Deactivation of the beta-catenin transactivating 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
Autism	Pathogenic	rs1555318552	RCV001251717	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs2502001713, rs2501913432, rs1555314944, rs886039692, rs1064795655, rs1131691548, rs1454466097, rs1594344233, rs774152851	RCV003128057 RCV003128058 RCV003128059 RCV001265459 RCV001265457 RCV001265458 RCV001265455 RCV001291274 RCV001265456	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHD8-associated Neurodevelopmental syndrome	Likely pathogenic	rs2139499999	RCV002266643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHD8-related disorder	Likely pathogenic; Pathogenic	rs751094013, rs746163664, rs1334692966, rs1373475251, rs1555318226, rs1555313658, rs2501888861, rs1057524677, rs991738444, rs1064795655, rs1555318734	RCV004550095 RCV004551941 RCV004551947 RCV004550665 RCV004552441 RCV004552559 RCV004554271 RCV004551504 RCV004551584 RCV004551589 RCV001824911	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental disorder	Likely pathogenic	rs1555314609	RCV003127435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Likely pathogenic	rs772226664	RCV005931144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs1057524339	RCV005898128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with autism and macrocephaly	Likely pathogenic; Pathogenic	rs752374375, rs1555314211, rs1888129073, rs751094013, rs2139467378, rs1334692966, rs2139448045, rs1555314116, rs2139531134, rs2139499311, rs2139447345, rs2139462537, rs1555316331, rs2139460816, rs2139469836, rs774906516, rs2139470242, rs2139447795, rs2139467241, rs1555313076, rs2502002296, rs1555314400, rs2501947601, rs2501941944, rs1394349467, rs776631057, rs863224857, rs2501954565, rs772226664, rs2502006766, rs1555313924, rs2501896438, rs2501900788, rs2501925066, rs2501897802, rs2501901102, rs1213146356, rs1555318113, rs2501947501, rs2501896457, rs1555318290, rs2501994331, rs1555313519, rs781575717, rs1064795655, rs1085307794, rs1131691627, rs1135401763, rs1555314788, rs1454466097, rs1331026006, rs2139484859, rs1594344233, rs397514551, rs397514552, rs1887639311, rs1887627866, rs1555314317, rs1555314736, rs1555313219, rs1566446604, rs1566427770, rs1555313048, rs1594329885, rs1594331875, rs1555313027, rs556977377, rs1594340060, rs1888108124, rs1555314911, rs1555314122, rs55884219, rs1887974151	RCV001327984 RCV001335739 RCV001726500 RCV002251588 RCV001534619 RCV002290730 RCV001724787 RCV001795805 RCV001801266 RCV002226862 RCV002249355 RCV002249356 RCV002248472 RCV002248473 RCV002248474 RCV003989762 RCV002273246 RCV002273261 RCV002273298 RCV002287850 RCV002288357 RCV005410951 RCV002465375 RCV002471625 RCV002814369 RCV000200678 RCV000197443 RCV003225901 RCV003333423 RCV003141414 RCV003141419 RCV003314456 RCV003319569 RCV003326311 RCV003335815 RCV003335816 RCV003535032 RCV003653173 RCV003984934 RCV003989454 RCV004555381 RCV004584251 RCV004594914 RCV000414935 RCV000709955 RCV003535768 RCV000505184 RCV000496959 RCV000501180 RCV000578341 RCV000032826 RCV000032827 RCV000032828 RCV000032829 RCV000032830 RCV000032831 RCV000032832 RCV000623837 RCV002483750 RCV000678363 RCV000678371 RCV000679950 RCV006249674 RCV000786927 RCV000824824 RCV000995505 RCV001000830 RCV001027707 RCV001089517 RCV002249752 RCV001249763 RCV003135896 RCV001261165	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs2139470170, rs1555313519, rs55884219, rs1888108039, rs1888277300	RCV001353228 RCV005622275 RCV001260682 RCV001260683 RCV001260681	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly	Pathogenic	rs2139452398	RCV001526539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1594344768	RCV000850415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2139478486	RCV002274414	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs751094013, rs2139484699, rs2139481823, rs2501857420, rs1555314788	RCV001374912 RCV001780016 RCV002273176 RCV003389181 RCV003389052	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2501857970	RCV001257002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs772226664	RCV005931145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
14Q11.2 MICRODUPLICATION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMODOMAIN HELICASE DNA BINDING PROTEIN 8 OVERGROWTH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL MYASTHENIC SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ptosis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatigable weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased muscle fatiguability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Overgrowth	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	22495309, 22495311, 23160955, 25989142, 27790361, 27824329, 28321286, 29317598, 30376831, 30392976, 31311581, 31526516, 32193494, 32918531, 33663567, 33998396, 34259569, 35110736, 35385734, 35978033, 36537238, 36575212, 37031308, 37229974, 37366052	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINGEN_DG	22083958, 22495309, 24998929, 26789910, 27602517, 27824329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23160955, 23285124, 24243641, 24998929, 25257502, 25294932, 25752243, 25989142, 26668231, 26789910, 26834018, 26921529, 28321286, 28322282, 28402856, 28831199, 28867767, 29079199, 29545257, 29668850, 29768199, 29920279, 30104731, 30107084, 30108144, 30376831, 30574290, 30692911, 31001818, 31146125, 31311581, 31526516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	24998929, 28191889, 30670789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG	22495309, 23160955, 24998929, 26789910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	22495311, 23801657, 24998929, 25257502, 25752243, 25989142, 26789910, 26921529, 28671691, 30277262, 30574290, 31721432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	22495311, 22521361, 23801657, 24776741, 25961944, 25989142, 27790361, 27824329, 28321286, 29034068, 32918531, 34259569, 34415117, 35110736, 35205412, 35385734, 35982159, 36182950, 36222238, 36575212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	23160955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	25961944		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	28321286	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26668231	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28840378		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26474971, 28840378	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30617194	Associate	★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Ulerythema ophryogenesis	BEFREE	29545257		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30043858	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27517544		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27517544		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	20453063, 23285124, 30108144		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33141432	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24211491		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34415117, 36575212, 38441608	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24243641		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18378692, 21447119, 22083958, 22495306, 23160955, 23835524, 24267886, 24998929, 26789910, 27824329, 28475857, 28600779		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	34415117, 38441608	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG	22495309, 23160955, 24998929, 26789910		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	CTD_human_DG	24998929		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	CTD_human_DG	24998929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	24998929, 26834018, 26921529, 31001818		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35110736	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	26588464		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24776741, 26789910, 26834018, 30107084, 30277262, 30670789, 31001818, 31146125, 31721432		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28321286, 36182950	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	30670789		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26626481		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30043858	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	23160955, 25257502, 25294932, 25735987, 26834018, 29768199, 30670789, 31001818, 31823155		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	CTD_human_DG	24998929, 30670789		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	28840378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25499215		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23835524		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25294932, 25499215, 26588464, 30013629		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	30670789		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	25499215		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23160955	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28831199		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	18378692, 21447119, 22083958, 22495306, 23160955, 23835524, 24267886, 24998929, 26789910, 27824329, 28475857, 28600779		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24211491		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25735987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Autism	Autism	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24243641		★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	33998396	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25294932, 26789910, 26921529, 29079199, 29545257, 30376831, 31311581		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26588464		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	30670789		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25499215		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25499215	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26789910		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28321286	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31526516	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23835524		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30043858	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40328966	Associate	★☆☆☆☆ Found in Text Mining only