HDAC8 (histone deacetylase 8)

Gene

• Entrez ID: 55869
• Gene name: Histone deacetylase 8
• Gene symbol: HDAC8
• Synonyms (NCBI Gene): CDA07, CDLS5, HD8, HDACL1, KDAC8, MRXS6, RPD3, WTS
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146015223	G>A,T	Benign, pathogenic	5 prime UTR variant, stop gained, synonymous variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs397515415	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained, non coding transcript variant, intron variant, genic downstream transcript variant
rs397515416	T>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs397515417	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs397515418	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs398122888	C>T	Pathogenic	Intron variant
rs398122909	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs587779380	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, intron variant, coding sequence variant
rs587783663	A>-	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs797045610	TCAA>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs797045611	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs797045612	C>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs797045613	G>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs863224877	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs869312660	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs878853048	C>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs886039706	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041838	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041936	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057516037	TGGAG>AC	Likely-pathogenic	Coding sequence variant, inframe indel, genic downstream transcript variant, non coding transcript variant
rs1057518047	C>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1057518126	A>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1057518727	T>C	Likely-pathogenic	5 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1057524379	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064793856	T>C	Pathogenic	Splice acceptor variant, intron variant
rs1064796517	CC>AG	Likely-pathogenic	5 prime UTR variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1131691579	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1555948969	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1555949010	T>C,G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1555991936	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1555991965	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555993215	GCTTGGT>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1555993243	C>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1556007534	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1556009247	A>C,T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1556165162	GG>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1569316085	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569317995	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1569318004	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1602491207	TTCCCTGCA>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs1602975122	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1602975455	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1602975601	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1603060007	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1603069440	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs1603083434	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003761	hsa-miR-449a	Western blot	19252524
MIRT440521	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440521	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT731866	hsa-miR-216b-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	26408293
MIRT731866	hsa-miR-216b-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	26408293
MIRT755711	hsa-miR-497–3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence	38577018
MIRT1042544	hsa-miR-1226	CLIP-seq
MIRT1042545	hsa-miR-3591-3p	CLIP-seq
MIRT1042546	hsa-miR-101	CLIP-seq
MIRT1042547	hsa-miR-1278	CLIP-seq
MIRT1042548	hsa-miR-221	CLIP-seq
MIRT1042549	hsa-miR-222	CLIP-seq
MIRT1042550	hsa-miR-452	CLIP-seq
MIRT1042551	hsa-miR-4676-3p	CLIP-seq
MIRT1042552	hsa-miR-548v	CLIP-seq
MIRT1042553	hsa-miR-3974	CLIP-seq
MIRT1042554	hsa-miR-570	CLIP-seq
MIRT1042555	hsa-miR-3121-3p	CLIP-seq
MIRT1042556	hsa-miR-376c	CLIP-seq
MIRT1042557	hsa-miR-3938	CLIP-seq
MIRT1042558	hsa-miR-450b-5p	CLIP-seq
MIRT1042559	hsa-miR-4726-3p	CLIP-seq
MIRT1042560	hsa-miR-4778-3p	CLIP-seq
MIRT1042561	hsa-miR-4789-5p	CLIP-seq
MIRT1042562	hsa-miR-4799-5p	CLIP-seq
MIRT1042563	hsa-miR-548aa	CLIP-seq
MIRT1042564	hsa-miR-642a	CLIP-seq
MIRT1042555	hsa-miR-3121-3p	CLIP-seq
MIRT1042556	hsa-miR-376c	CLIP-seq
MIRT1042561	hsa-miR-4789-5p	CLIP-seq
MIRT2451051	hsa-miR-216b	CLIP-seq
MIRT2451052	hsa-miR-4272	CLIP-seq
MIRT2451053	hsa-miR-4742-3p	CLIP-seq
MIRT2451051	hsa-miR-216b	CLIP-seq
MIRT2451052	hsa-miR-4272	CLIP-seq
MIRT2451053	hsa-miR-4742-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SOX4	Activation	23482931

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IBA
GO:0000118	Component	Histone deacetylase complex	TAS	12711221
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	10748112
GO:0000228	Component	Nuclear chromosome	TAS	10748112
GO:0004407	Function	Histone deacetylase activity	IBA
GO:0004407	Function	Histone deacetylase activity	IDA	28497810
GO:0004407	Function	Histone deacetylase activity	IEA
GO:0004407	Function	Histone deacetylase activity	TAS	10748112, 12711221
GO:0005515	Function	Protein binding	IPI	16809764, 26221039
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	12711221
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	12711221
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	TAS	10748112, 12711221
GO:0007064	Process	Mitotic sister chromatid cohesion	IMP	22885700
GO:0016787	Function	Hydrolase activity	IEA
GO:0030544	Function	Hsp70 protein binding	IPI	16809764
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	16809764
GO:0031507	Process	Heterochromatin formation	IBA
GO:0031647	Process	Regulation of protein stability	IDA	16809764
GO:0032204	Process	Regulation of telomere maintenance	IMP	16809764
GO:0033558	Function	Protein lysine deacetylase activity	IDA	22885700
GO:0033558	Function	Protein lysine deacetylase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051879	Function	Hsp90 protein binding	IPI	16809764
GO:0140297	Function	DNA-binding transcription factor binding	TAS	12711221
GO:0141221	Function	Histone deacetylase activity, hydrolytic mechanism	IEA
GO:0160008	Function	Protein decrotonylase activity	IEA
GO:0160009	Function	Histone decrotonylase activity	IDA	28497810

Other IDs

• MIM: 300269
• HGNC: 13315
• e!Ensembl: ENSG00000147099

Protein

• UniProt ID: Q9BY41
• Protein name: Histone deacetylase 8 (HD8) (EC 3.5.1.98) (Protein deacetylase HDAC8) (EC 3.5.1.-) (Protein decrotonylase HDAC8) (EC 3.5.1.-)
• Protein function: Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748, PubMed:28497810). Histone deacetylatio
• PDB: 1T64, 1T67, 1T69, 1VKG, 1W22, 2V5W, 2V5X, 3EW8, 3EWF, 3EZP, 3EZT, 3F06, 3F07, 3F0R, 3MZ3, 3MZ4, 3MZ6, 3MZ7, 3RQD, 3SFF, 3SFH, 4QA0, 4QA1, 4QA2, 4QA3, 4QA4, 4QA5, 4QA6, 4QA7, 4RN0, 4RN1, 4RN2, 5BWZ, 5D1B, 5D1C, 5D1D, 5DC5, 5DC6, 5DC7, 5DC8, 5FCW, 5THS, 5THT, 5THU, 5THV, 5VI6, 6HSK, 6ODA, 6ODB, 6ODC, 7JVU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00850	Hist_deacetyl	31 → 322	Histone deacetylase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Weakly expressed in most tissues. Expressed at higher level in heart, brain, kidney and pancreas and also in liver, lung, placenta, prostate and kidney. {ECO:0000269|PubMed:10926844, ECO:0000269|PubMed:14701748, ECO:0000269|PubMed:1577
• Sequence:

  MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPK
  VASMEEMATFHTDAYLQHLQKVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATI
  TAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVLGILRLRRKFERILYVDLDLH
  HGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
  YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLI
  LGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPH
  RIQQILNYIKGNLKHVV

• Sequence length: 377

Pathways

KEGG:

Cell cycle
Neutrophil extracellular trap formation
Alcoholism
Viral carcinogenesis

Reactome:

Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HDACs deacetylate histones
Notch-HLH transcription pathway

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
Cornelia de Lange syndrome 1	Pathogenic	rs886041936, rs1569316085, rs1602491207	RCV000856789 RCV001813791 RCV000856730	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange syndrome 5	Pathogenic; Likely pathogenic	rs146015223, rs2147614590, rs2148144488, rs2147614771, rs2147618568, rs2148045934, rs2148131678, rs2148039184, rs2148039062, rs2147618372, rs587783663, rs2520355610, rs2520419268, rs797045613, rs797045612, rs797045611, rs797045610, rs863224877, rs869312660, rs2519784757, rs886041838, rs2519784773, rs2520420090, rs2522236271, rs2520356009, rs2522253444, rs2521210921, rs1057516037, rs1057518727, rs1064793856, rs1555948969, rs398122888, rs1555949010, rs397515415, rs397515416, rs397515417, rs397515418, rs1569316085, rs1569318004, rs1556009247, rs1556165162, rs1569317995, rs1602975455, rs1602975122, rs1602975601, rs2051897517, rs2047965357, rs2048769063, rs2051867176, rs587779380	RCV001389995 RCV001385501 RCV001788538 RCV001779391 RCV001783417 RCV001808014 RCV001808034 RCV001938407 RCV002038444 RCV004784039 RCV000146087 RCV002286440 RCV002881076 RCV000192571 RCV000194360 RCV000193465 RCV000194427 RCV000196804 RCV000209849 RCV003155899 RCV003226124 RCV000677735 RCV003487263 RCV003650913 RCV003883346 RCV003985197 RCV003992866 RCV004560481 RCV000408608 RCV000415301 RCV005860083 RCV000497470 RCV000515541 RCV000030813 RCV000531363 RCV000032915 RCV000032916 RCV000032917 RCV000032919 RCV000680271 RCV000680270 RCV000680269 RCV000656365 RCV000678911 RCV000850493 RCV000985185 RCV000990868 RCV001046979 RCV001089516 RCV001193351 RCV001252510 RCV000077779 RCV001268970	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HDAC8-related disorder	Pathogenic	rs398122888	RCV003415747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1603060007, rs1603069440, rs2051864063	RCV000851522 RCV000851491 RCV001260722	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2147590837	RCV001374901	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs863224877	RCV005893608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2148039062	RCV005925676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLINODACTYLY OF THE 5TH FINGER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNELIA DE LANGE SYNDROME	—	ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILSON-TURNER SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	30737272		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	30737272		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	23482931		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25993293	Associate	★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34069769, 35358829	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24718998		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25011684		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26625202, 26926079, 31508813, 31605710		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29333926, 31817161, 31970414, 32429642	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16809764, 30292946, 35345359	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25011684		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29374219	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34308568	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	33122805	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29218547		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29716651		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29716651		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23948281		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28390197		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25321483, 36575468	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	29519750		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	CLINGEN_DG	19605684, 22885700, 22889856, 25102094, 29519750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	22885700, 23683030, 24038889, 24352918, 24403048, 24756084, 24918291, 25075551, 25102094, 25196272, 25655089, 26206533, 26463496, 26581180, 26671848, 26725122, 27576763, 28588001, 29155047, 29279609, 29991052, 30606125, 30632303, 30806031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	ORPHANET_DG	22885700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia de Lange syndrome	Cornelia De Lange Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CORNELIA DE LANGE SYNDROME 5	Cornelia De Lange Syndrome	CLINVAR_DG	22885700, 24375697, 24403048, 25533962, 26633545, 26671848, 26725122, 26938784, 27159028, 30158690		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CORNELIA DE LANGE SYNDROME 5	Cornelia De Lange Syndrome	UNIPROT_DG	22885700		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CORNELIA DE LANGE SYNDROME 5	Cornelia De Lange Syndrome	GENOMICS_ENGLAND_DG	24403048		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	22885700, 24403048, 24756084, 24918291, 25075551, 25125236, 25652421, 25655089, 26463496, 26581180, 29991052, 30515000, 30606125, 30614194, 32532882, 33277604, 33316326, 34342180, 35358829, 36011323, 36481505, 39682772	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29393346		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33122805, 34069769, 35052418, 36350923	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34530062	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	33096729	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15146185, 15146186, 17640042, 19886810, 22885700, 22889856, 24038889, 24403048, 24718998, 25209348, 26671848		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37887281	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	21685710		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26412386		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34072831	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37528157	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	26938784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29293505	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28501516		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18762557		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27673327		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30358439		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30358439	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30358439	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22889856, 26013035		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	35358829	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31402267		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21685710, 31761932	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26387755		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24077923, 27283490, 30701034, 31730902		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27283490		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30358439		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15477595, 28232663	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	30836926		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26625202, 26926079, 31508813, 31605710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26412386		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25011684		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22944197, 25011684, 25321483, 25605725, 26013035, 26412386, 27072133, 28632421, 28965432, 29142427, 29150330, 29182018, 29514055, 29533873, 29953251, 30292946, 31370697, 31421254, 31530244, 31630054, 31830865		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	26200462, 27761835		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29716651		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25836739	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29174371, 38030596	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15146185, 15146186, 17640042, 19886810, 22885700, 22889856, 24038889, 24403048, 24718998, 25209348, 26671848		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25482492	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10922473		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	23111066, 28390197		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24077923, 27283490, 29515255, 30701034, 31508813		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19118036, 19780707, 25695609, 28223126, 29515255, 29947893, 30237861, 30292946, 31630054, 31748509		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25605725, 29947893, 30292946, 35886887	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30633630		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30063117	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35955780	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29374219	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30358439		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	30358439	Associate	★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	16086395, 24352918		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	24352918		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28661460		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28004115		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26412386		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34232196	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30521473, 30611847, 31748509		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28923385, 30582912, 31508813		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32429642	Stimulate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28078999		★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29716651	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	21685710		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilson-Turner syndrome	Wilson-Turner Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME	Mental Retardation, X-Linked	ORPHANET_DG	22889856		★☆☆☆☆ Found in Text Mining only
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only