SMC3 (structural maintenance of chromosomes 3)

Gene

• Entrez ID: 9126
• Gene name: Structural maintenance of chromosomes 3
• Gene symbol: SMC3
• Synonyms (NCBI Gene): BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1
• Chromosome: 10
• Chromosome location: 10q25.2
• Summary: This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587784425	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784427	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784429	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs727503775	TACAGGAACTT>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs748876063	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs776056911	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs779885552	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs797044861	A>C	Pathogenic	Coding sequence variant, missense variant
rs797045070	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs797045996	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs797045997	->GAA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs863223279	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs863225258	T>C	Pathogenic	Coding sequence variant, missense variant
rs863225259	ACT>-	Pathogenic	Coding sequence variant, inframe deletion
rs863225260	G>A	Pathogenic	Coding sequence variant, missense variant
rs863225261	G>C	Pathogenic	Coding sequence variant, missense variant
rs866273473	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312672	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886041239	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs901512521	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521663	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793598	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796790	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691432	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1564792181	GCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1564794233	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1564796294	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1590556378	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1590556722	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1590567950	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1590571077	AAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1590572104	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019626	hsa-miR-340-5p	Sequencing	20371350
MIRT026077	hsa-miR-196a-5p	Sequencing	20371350
MIRT049364	hsa-miR-92a-3p	CLASH	23622248
MIRT041357	hsa-miR-193b-3p	CLASH	23622248
MIRT040180	hsa-miR-615-3p	CLASH	23622248
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT176641	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT448461	hsa-miR-7844-5p	PAR-CLIP	22100165
MIRT448460	hsa-miR-10a-3p	PAR-CLIP	22100165
MIRT448459	hsa-miR-4700-3p	PAR-CLIP	22100165
MIRT448458	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT176645	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT448457	hsa-miR-520d-5p	PAR-CLIP	22100165
MIRT448456	hsa-miR-524-5p	PAR-CLIP	22100165
MIRT448455	hsa-let-7c-3p	PAR-CLIP	22100165
MIRT176639	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT176640	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT448454	hsa-miR-493-5p	PAR-CLIP	22100165
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT735352	hsa-miR-4720-3p	Luciferase reporter assay, Western blotting, In situ hybridization	32314520
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT176641	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT448461	hsa-miR-7844-5p	PAR-CLIP	22100165
MIRT448460	hsa-miR-10a-3p	PAR-CLIP	22100165
MIRT448459	hsa-miR-4700-3p	PAR-CLIP	22100165
MIRT448458	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT176645	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT448457	hsa-miR-520d-5p	PAR-CLIP	22100165
MIRT448456	hsa-miR-524-5p	PAR-CLIP	22100165
MIRT448455	hsa-let-7c-3p	PAR-CLIP	22100165
MIRT176639	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT176640	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT448454	hsa-miR-493-5p	PAR-CLIP	22100165
MIRT448453	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT055334	hsa-miR-3163	PAR-CLIP	22100165
MIRT448452	hsa-miR-4762-5p	PAR-CLIP	22100165
MIRT448451	hsa-miR-4427	PAR-CLIP	22100165
MIRT448450	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT448449	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT448448	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT448447	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT1372399	hsa-miR-1343	CLIP-seq
MIRT1372400	hsa-miR-4464	CLIP-seq
MIRT1372401	hsa-miR-4748	CLIP-seq
MIRT1372402	hsa-miR-513a-3p	CLIP-seq
MIRT1372403	hsa-miR-582-5p	CLIP-seq
MIRT2110605	hsa-miR-1279	CLIP-seq
MIRT2110606	hsa-miR-150	CLIP-seq
MIRT2110607	hsa-miR-382	CLIP-seq
MIRT2110608	hsa-miR-4712-3p	CLIP-seq
MIRT2110609	hsa-miR-4713-5p	CLIP-seq
MIRT2110610	hsa-miR-532-3p	CLIP-seq
MIRT2110611	hsa-miR-580	CLIP-seq
MIRT2110605	hsa-miR-1279	CLIP-seq
MIRT2110606	hsa-miR-150	CLIP-seq
MIRT2334010	hsa-miR-196a	CLIP-seq
MIRT2334011	hsa-miR-196b	CLIP-seq
MIRT2334012	hsa-miR-3927	CLIP-seq
MIRT2110609	hsa-miR-4713-5p	CLIP-seq
MIRT2110610	hsa-miR-532-3p	CLIP-seq
MIRT2628209	hsa-miR-1264	CLIP-seq
MIRT2628210	hsa-miR-1272	CLIP-seq
MIRT2628211	hsa-miR-1322	CLIP-seq
MIRT1372399	hsa-miR-1343	CLIP-seq
MIRT2628212	hsa-miR-3187-3p	CLIP-seq
MIRT2628213	hsa-miR-323-3p	CLIP-seq
MIRT2628214	hsa-miR-340	CLIP-seq
MIRT2628215	hsa-miR-3926	CLIP-seq
MIRT2628216	hsa-miR-4435	CLIP-seq
MIRT1372400	hsa-miR-4464	CLIP-seq
MIRT2628217	hsa-miR-4701-5p	CLIP-seq
MIRT2110608	hsa-miR-4712-3p	CLIP-seq
MIRT1372401	hsa-miR-4748	CLIP-seq
MIRT2628218	hsa-miR-4759	CLIP-seq
MIRT2628219	hsa-miR-4766-5p	CLIP-seq
MIRT2628220	hsa-miR-4797-5p	CLIP-seq
MIRT1372402	hsa-miR-513a-3p	CLIP-seq
MIRT2628221	hsa-miR-548s	CLIP-seq
MIRT2628222	hsa-miR-570	CLIP-seq
MIRT1372403	hsa-miR-582-5p	CLIP-seq
MIRT2628223	hsa-miR-588	CLIP-seq
MIRT2628210	hsa-miR-1272	CLIP-seq
MIRT2628211	hsa-miR-1322	CLIP-seq
MIRT2628213	hsa-miR-323-3p	CLIP-seq
MIRT2628214	hsa-miR-340	CLIP-seq
MIRT2628218	hsa-miR-4759	CLIP-seq
MIRT2628220	hsa-miR-4797-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	TAS	9506951
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000775	Component	Chromosome, centromeric region	TAS
GO:0000785	Component	Chromatin	IDA	16682347, 19907496
GO:0000800	Component	Lateral element	IEA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003777	Function	Microtubule motor activity	NAS	11590136
GO:0005515	Function	Protein binding	IPI	9506951, 9789013, 11590136, 11983169, 15656913, 15737063, 15837422, 15855230, 16682347, 16802858, 17105772, 17112726, 17113138, 17349791, 17962804, 18235444, 18832153, 19629043, 19907496, 20818333, 22293751, 22540012, 22628566, 22885700, 23242214, 24299456, 24981860, 26496610, 28514
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32409525
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006275	Process	Regulation of DNA replication	IMP	19907496
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007062	Process	Sister chromatid cohesion	IMP	15917200
GO:0007062	Process	Sister chromatid cohesion	NAS	11590136
GO:0007064	Process	Mitotic sister chromatid cohesion	IBA
GO:0008278	Component	Cohesin complex	IDA	9789013, 11590136, 22628566
GO:0008278	Component	Cohesin complex	IEA
GO:0008278	Component	Cohesin complex	NAS	9506951
GO:0016363	Component	Nuclear matrix	IDA	11590136
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0030892	Component	Mitotic cohesin complex	IBA
GO:0030892	Component	Mitotic cohesin complex	IPI	23242214
GO:0030892	Component	Mitotic cohesin complex	ISS
GO:0030893	Component	Meiotic cohesin complex	IDA	21242291
GO:0030893	Component	Meiotic cohesin complex	IEA
GO:0030893	Component	Meiotic cohesin complex	NAS	32409525
GO:0031981	Component	Nuclear lumen	IEA
GO:0034087	Process	Establishment of mitotic sister chromatid cohesion	NAS	32409525
GO:0034089	Process	Establishment of meiotic sister chromatid cohesion	NAS	32409525
GO:0036033	Function	Mediator complex binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	11590136
GO:0048487	Function	Beta-tubulin binding	IDA	11590136
GO:0051276	Process	Chromosome organization	IEA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IDA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070840	Function	Dynein complex binding	IDA	11590136
GO:0090307	Process	Mitotic spindle assembly	IMP	11590136
GO:0097431	Component	Mitotic spindle pole	IDA	11590136

Other IDs

• MIM: 606062
• HGNC: 2468
• e!Ensembl: ENSG00000108055

Protein

• UniProt ID: Q9UQE7
• Protein name: Structural maintenance of chromosomes protein 3 (SMC protein 3) (SMC-3) (Basement membrane-associated chondroitin proteoglycan) (Bamacan) (Chondroitin sulfate proteoglycan 6) (Chromosome-associated polypeptide) (hCAP)
• Protein function: Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissoc
• PDB: 6WG3, 6WG4, 6WG6, 6WGE, 7W1M, 8P0A, 8PQ5, 8ROH, 8ROI, 8ROJ, 8ROK, 8ROL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02463	SMC_N	2 → 1197	RecF/RecN/SMC N terminal domain	Domain
  PF06470	SMC_hinge	529 → 643	SMC proteins Flexible Hinge Domain	Domain

• Sequence:

  MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQ
  RLALLHEGTGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKND
  VMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMK
  ETEGKREKINELLKYIEERLHTLEEEKEELAQYQKWDKMRRALEYTIYNQELNETRAKLD
  ELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIK
  QRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEER
  GIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL
  EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQ
  QALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGINQHVQNGYHGIVMNNF
  ECEPAFYTCVEVTAGNRLFYHIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAY
  PETNDAIPMISKLRYNPRFDKAFKHVFGKTLICRSMEVSTQLARAFTMDCITLEGDQVSH
  RGALTGGYYDTRKSRLELQKDVRKAEEELGELEAKLNENLRRNIERINNEIDQLMNQMQQ
  IETQQRKFKASRDSILSEMKMLKEKRQQSEKTFMPKQRSLQSLEASLHAMESTRESLKAE
  LGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGIITRVETYLNENLRKRL
  DQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKS
  MERWKNMEKEHMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTL
  SLKQLFRKLEQCNTELKKYSHVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNV
  LELRKYEAIQLTFKQVSKNFSEVFQKLVPGGKATLVMKKGDVEGSQSQDEGEGSGESERG
  SGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQKSLVALALIFAIQKCDPAPFY
  LFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVKFRNKVSHIDV
  ITAEMAKDFVEDDTTHG

• Sequence length: 1217

Pathways

KEGG:

Cell cycle
Oocyte meiosis

Reactome:

Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression

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	Likely pathogenic	rs1861180589	RCV001270789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange syndrome 3	Likely pathogenic; Pathogenic	rs2134740210, rs1861180567, rs2134754195, rs2134750930, rs2134735614, rs2134745322, rs587784429, rs587784425, rs587784427, rs727503775, rs2493144025, rs863223279, rs797044861, rs2493117603, rs797045070, rs797045997, rs863225258, rs863225259, rs863225260, rs863225261, rs869312672, rs2493152435, rs886041239, rs2493111001, rs2493145293, rs2493131897, rs2493143956, rs774545380, rs2493126445, rs2493146503, rs2493111036, rs2493126411, rs776056911, rs1564792181, rs1564794233, rs1564789897, rs1590556722, rs1590563617, rs1590556378, rs1590571077, rs1861074646, rs1861409519, rs1861369323	RCV001378873 RCV001810308 RCV001771800 RCV001775408 RCV002221949 RCV002246733 RCV000147600 RCV000147580 RCV000147586 RCV000157051 RCV002512473 RCV000004894 RCV000201868 RCV002824105 RCV000191131 RCV000192327 RCV000201864 RCV000201849 RCV000201866 RCV000201859 RCV000209912 RCV003149157 RCV002051833 RCV003322674 RCV003485953 RCV003502812 RCV003504562 RCV003503176 RCV003611782 RCV003612862 RCV003613047 RCV003984930 RCV003992005 RCV000503251 RCV000680264 RCV000680265 RCV000705877 RCV000768435 RCV000809857 RCV000988450 RCV001027668 RCV001072116 RCV006249733 RCV001267657	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Lange syndrome	Likely pathogenic	rs869312672, rs748876063, rs1590572104	RCV004017489 RCV000857247 RCV000857235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs886041239	RCV000721938	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMC3-related disorder	Pathogenic; Likely pathogenic	rs2493114413, rs2493128583	RCV003408471 RCV003391479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wiedemann-Steiner syndrome	Pathogenic	rs727503775	RCV000157051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ 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
CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIEDEMANN STEINER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	12651860		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	23455720	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25655089	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33397451	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	11118209		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12651860		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36281130	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37204480	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29852353		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31843272		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	18727658		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10801778, 16156898		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18299561		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	24874887		★☆☆☆☆ 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 malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular hypertrophy-cerebral syndrome	Congenital Muscular Hypertrophy-Cerebral Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	17273969, 18996922, 19052029, 19690971, 19793304, 20358602, 20448023, 20687500, 22140011, 22241092, 22857006, 22885700, 24874887, 25574841, 25655089, 26463496, 27164022, 29155047, 29279609, 30125677, 30606125, 30614194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	LHGDN	17273969, 18996922		★★☆☆☆ 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	Cornelia De Lange Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange Syndrome 3	Cornelia De Lange Syndrome	GENOMICS_ENGLAND_DG	25125236, 25529582, 25655089		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange Syndrome 3	Cornelia De Lange Syndrome	CLINVAR_DG	26633545, 30158690		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange Syndrome 3	Cornelia De Lange Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coronary heart disease	Coronary Heart Disease	BEFREE	22965847		★☆☆☆☆ Found in Text Mining only
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	17273969, 18996922, 19052029, 19701948, 20358602, 20448023, 22241092, 22857006, 22885700, 23106691, 24756084, 24918291, 25125236, 25574841, 25652421, 25655089, 26581180, 30515000, 30606125, 30614194, 32532882, 34989322, 39682772	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depression Postpartum	Major depressive disorder	Pubtator	25655089	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33289509	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23174299		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35587378, 35838049	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	LHGDN	18727658		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	24990604		★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	BEFREE	25574841		★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25655089	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22965847, 25655089	Associate	★☆☆☆☆ 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
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17273969		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	17273969		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	17273969	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	10801778		★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	19094982		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23733339, 25095896	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24335498, 36727396	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	23955599		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30553776		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30089216		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31111177		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	31515677		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29852353		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31524299		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26061708, 27072133, 28263991, 30553776		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29618812		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17273969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	25655089		★☆☆☆☆ 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
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	23955599		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	35838049	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27270079, 28656213, 30723585, 31524299		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Orofacial Cleft 1	Orofacial cleft	Pubtator	37350193	Associate	★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	31083581		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	BEFREE	18786550		★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26308735	Associate	★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31524299		★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	31083581		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ 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
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16043481		★☆☆☆☆ Found in Text Mining only
Roberts Syndrome	Roberts syndrome	Pubtator	34989322	Associate	★☆☆☆☆ Found in Text Mining only
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	BEFREE	18786550, 21637801		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33460400	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ 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
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24461912		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	24990604		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37542643	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ 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