NCAPD2 (non-SMC condensin I complex subunit D2)

Gene

• Entrez ID: 9918
• Gene name: Non-SMC condensin I complex subunit D2
• Gene symbol: NCAPD2
• Synonyms (NCBI Gene): CAP-D2, CNAP1, MCPH21, hCAP-D2
• Chromosome: 12
• Chromosome location: 12p13.31

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143795587	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149296057	G>A	Likely-pathogenic	Splice donor variant
rs1555138550	G>T	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016499	hsa-miR-193b-3p	Proteomics	21512034
MIRT020820	hsa-miR-155-5p	Proteomics	18668040
MIRT031777	hsa-miR-16-5p	Proteomics	18668040
MIRT051923	hsa-let-7b-5p	CLASH	23622248
MIRT051923	hsa-let-7b-5p	CLASH	23622248
MIRT046748	hsa-miR-222-3p	CLASH	23622248
MIRT045112	hsa-miR-186-5p	CLASH	23622248
MIRT045112	hsa-miR-186-5p	CLASH	23622248
MIRT043407	hsa-miR-331-3p	CLASH	23622248
MIRT042024	hsa-miR-484	CLASH	23622248
MIRT040571	hsa-miR-92b-3p	CLASH	23622248
MIRT039773	hsa-miR-615-3p	CLASH	23622248
MIRT039773	hsa-miR-615-3p	CLASH	23622248
MIRT038733	hsa-miR-93-3p	CLASH	23622248
MIRT035874	hsa-miR-1303	CLASH	23622248
MIRT052865	hsa-miR-3620-3p	CLASH	23622248
MIRT517872	hsa-miR-320e	PAR-CLIP	21572407
MIRT517871	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT517870	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT517869	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT517868	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT517867	hsa-miR-3666	PAR-CLIP	21572407
MIRT517866	hsa-miR-4295	PAR-CLIP	21572407
MIRT517865	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT517864	hsa-miR-6741-3p	PAR-CLIP	21572407
MIRT517863	hsa-miR-3135b	PAR-CLIP	21572407
MIRT517862	hsa-miR-504-3p	PAR-CLIP	21572407
MIRT517861	hsa-miR-122-5p	PAR-CLIP	21572407
MIRT517860	hsa-miR-3650	PAR-CLIP	21572407
MIRT517859	hsa-miR-106a-3p	PAR-CLIP	21572407
MIRT517858	hsa-miR-8070	PAR-CLIP	21572407
MIRT517872	hsa-miR-320e	PAR-CLIP	23446348
MIRT517871	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT517870	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT517869	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT517868	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT517867	hsa-miR-3666	PAR-CLIP	23446348
MIRT517866	hsa-miR-4295	PAR-CLIP	23446348
MIRT517865	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT517864	hsa-miR-6741-3p	PAR-CLIP	23446348
MIRT517863	hsa-miR-3135b	PAR-CLIP	23446348
MIRT517862	hsa-miR-504-3p	PAR-CLIP	23446348
MIRT517861	hsa-miR-122-5p	PAR-CLIP	23446348
MIRT517860	hsa-miR-3650	PAR-CLIP	23446348
MIRT517859	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT517858	hsa-miR-8070	PAR-CLIP	23446348
MIRT509768	hsa-miR-4438	PAR-CLIP	23446348
MIRT509767	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT509766	hsa-miR-371b-3p	PAR-CLIP	23446348
MIRT509765	hsa-miR-128-3p	PAR-CLIP	23446348
MIRT509764	hsa-miR-216a-3p	PAR-CLIP	23446348
MIRT509763	hsa-miR-3681-3p	PAR-CLIP	23446348
MIRT509762	hsa-miR-5095	PAR-CLIP	23446348
MIRT509761	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT509760	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT440137	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440138	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440137	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727103	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727104	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727102	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727101	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440138	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT517872	hsa-miR-320e	PAR-CLIP	21572407
MIRT517871	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT517870	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT517869	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT517868	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT517867	hsa-miR-3666	PAR-CLIP	21572407
MIRT517866	hsa-miR-4295	PAR-CLIP	21572407
MIRT517865	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT517864	hsa-miR-6741-3p	PAR-CLIP	21572407
MIRT517863	hsa-miR-3135b	PAR-CLIP	21572407
MIRT517862	hsa-miR-504-3p	PAR-CLIP	21572407
MIRT517861	hsa-miR-122-5p	PAR-CLIP	21572407
MIRT517860	hsa-miR-3650	PAR-CLIP	21572407
MIRT517859	hsa-miR-106a-3p	PAR-CLIP	21572407
MIRT517858	hsa-miR-8070	PAR-CLIP	21572407
MIRT517872	hsa-miR-320e	PAR-CLIP	23446348
MIRT517871	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT517870	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT517869	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT517868	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT517867	hsa-miR-3666	PAR-CLIP	23446348
MIRT517866	hsa-miR-4295	PAR-CLIP	23446348
MIRT517865	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT517864	hsa-miR-6741-3p	PAR-CLIP	23446348
MIRT517863	hsa-miR-3135b	PAR-CLIP	23446348
MIRT517862	hsa-miR-504-3p	PAR-CLIP	23446348
MIRT517861	hsa-miR-122-5p	PAR-CLIP	23446348
MIRT517860	hsa-miR-3650	PAR-CLIP	23446348
MIRT517859	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT517858	hsa-miR-8070	PAR-CLIP	23446348
MIRT509768	hsa-miR-4438	PAR-CLIP	23446348
MIRT509767	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT509766	hsa-miR-371b-3p	PAR-CLIP	23446348
MIRT509765	hsa-miR-128-3p	PAR-CLIP	23446348
MIRT509764	hsa-miR-216a-3p	PAR-CLIP	23446348
MIRT509763	hsa-miR-3681-3p	PAR-CLIP	23446348
MIRT509762	hsa-miR-5095	PAR-CLIP	23446348
MIRT509761	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT509760	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT1175761	hsa-miR-1273f	CLIP-seq
MIRT1175762	hsa-miR-136	CLIP-seq
MIRT1175763	hsa-miR-143	CLIP-seq
MIRT1175764	hsa-miR-1976	CLIP-seq
MIRT1175765	hsa-miR-3155	CLIP-seq
MIRT1175766	hsa-miR-3155b	CLIP-seq
MIRT1175767	hsa-miR-3162-3p	CLIP-seq
MIRT1175768	hsa-miR-3170	CLIP-seq
MIRT1175769	hsa-miR-323b-3p	CLIP-seq
MIRT1175770	hsa-miR-3663-5p	CLIP-seq
MIRT1175771	hsa-miR-3689d	CLIP-seq
MIRT1175772	hsa-miR-411	CLIP-seq
MIRT1175773	hsa-miR-4261	CLIP-seq
MIRT1175774	hsa-miR-4279	CLIP-seq
MIRT1175775	hsa-miR-4423-5p	CLIP-seq
MIRT1175776	hsa-miR-4534	CLIP-seq
MIRT1175777	hsa-miR-4708-5p	CLIP-seq
MIRT1175778	hsa-miR-4716-5p	CLIP-seq
MIRT1175779	hsa-miR-4722-3p	CLIP-seq
MIRT1175780	hsa-miR-4770	CLIP-seq
MIRT1175781	hsa-miR-4777-3p	CLIP-seq
MIRT1175782	hsa-miR-4781-3p	CLIP-seq
MIRT1175783	hsa-miR-4802-5p	CLIP-seq
MIRT1175784	hsa-miR-515-5p	CLIP-seq
MIRT1175785	hsa-miR-526b	CLIP-seq
MIRT1175786	hsa-miR-624	CLIP-seq
MIRT2050865	hsa-miR-106a	CLIP-seq
MIRT2050866	hsa-miR-106b	CLIP-seq
MIRT2050867	hsa-miR-122	CLIP-seq
MIRT2050868	hsa-miR-127-5p	CLIP-seq
MIRT2050869	hsa-miR-1276	CLIP-seq
MIRT2050870	hsa-miR-130a	CLIP-seq
MIRT2050871	hsa-miR-130b	CLIP-seq
MIRT2050872	hsa-miR-154	CLIP-seq
MIRT2050873	hsa-miR-17	CLIP-seq
MIRT2050874	hsa-miR-20a	CLIP-seq
MIRT2050875	hsa-miR-20b	CLIP-seq
MIRT2050876	hsa-miR-301a	CLIP-seq
MIRT2050877	hsa-miR-301b	CLIP-seq
MIRT2050878	hsa-miR-302a	CLIP-seq
MIRT2050879	hsa-miR-302b	CLIP-seq
MIRT2050880	hsa-miR-302c	CLIP-seq
MIRT2050881	hsa-miR-302d	CLIP-seq
MIRT2050882	hsa-miR-302e	CLIP-seq
MIRT2050883	hsa-miR-33a	CLIP-seq
MIRT2050884	hsa-miR-33b	CLIP-seq
MIRT2050885	hsa-miR-3620	CLIP-seq
MIRT2050886	hsa-miR-3658	CLIP-seq
MIRT2050887	hsa-miR-372	CLIP-seq
MIRT2050888	hsa-miR-373	CLIP-seq
MIRT1175773	hsa-miR-4261	CLIP-seq
MIRT2050889	hsa-miR-4311	CLIP-seq
MIRT1175775	hsa-miR-4423-5p	CLIP-seq
MIRT2050890	hsa-miR-4470	CLIP-seq
MIRT2050891	hsa-miR-454	CLIP-seq
MIRT2050892	hsa-miR-4660	CLIP-seq
MIRT2050893	hsa-miR-4700-3p	CLIP-seq
MIRT2050894	hsa-miR-4735-5p	CLIP-seq
MIRT2050895	hsa-miR-519d	CLIP-seq
MIRT2050896	hsa-miR-520a-3p	CLIP-seq
MIRT2050897	hsa-miR-520b	CLIP-seq
MIRT2050898	hsa-miR-520c-3p	CLIP-seq
MIRT2050899	hsa-miR-520d-3p	CLIP-seq
MIRT2050900	hsa-miR-520e	CLIP-seq
MIRT2050901	hsa-miR-520g	CLIP-seq
MIRT2050902	hsa-miR-520h	CLIP-seq
MIRT2050903	hsa-miR-583	CLIP-seq
MIRT1175786	hsa-miR-624	CLIP-seq
MIRT2050904	hsa-miR-646	CLIP-seq
MIRT2050905	hsa-miR-93	CLIP-seq
MIRT2050906	hsa-miR-935	CLIP-seq
MIRT2050867	hsa-miR-122	CLIP-seq
MIRT1175761	hsa-miR-1273f	CLIP-seq
MIRT2050869	hsa-miR-1276	CLIP-seq
MIRT2050870	hsa-miR-130a	CLIP-seq
MIRT2050871	hsa-miR-130b	CLIP-seq
MIRT1175762	hsa-miR-136	CLIP-seq
MIRT2050872	hsa-miR-154	CLIP-seq
MIRT1175764	hsa-miR-1976	CLIP-seq
MIRT2050876	hsa-miR-301a	CLIP-seq
MIRT2050877	hsa-miR-301b	CLIP-seq
MIRT1175765	hsa-miR-3155	CLIP-seq
MIRT1175766	hsa-miR-3155b	CLIP-seq
MIRT1175767	hsa-miR-3162-3p	CLIP-seq
MIRT1175768	hsa-miR-3170	CLIP-seq
MIRT1175769	hsa-miR-323b-3p	CLIP-seq
MIRT2279995	hsa-miR-326	CLIP-seq
MIRT2279996	hsa-miR-330-5p	CLIP-seq
MIRT2050883	hsa-miR-33a	CLIP-seq
MIRT2050884	hsa-miR-33b	CLIP-seq
MIRT2050886	hsa-miR-3658	CLIP-seq
MIRT1175770	hsa-miR-3663-5p	CLIP-seq
MIRT2279997	hsa-miR-4284	CLIP-seq
MIRT2050889	hsa-miR-4311	CLIP-seq
MIRT2050891	hsa-miR-454	CLIP-seq
MIRT1175778	hsa-miR-4716-5p	CLIP-seq
MIRT1175779	hsa-miR-4722-3p	CLIP-seq
MIRT2050894	hsa-miR-4735-5p	CLIP-seq
MIRT1175781	hsa-miR-4777-3p	CLIP-seq
MIRT1175782	hsa-miR-4781-3p	CLIP-seq
MIRT1175784	hsa-miR-515-5p	CLIP-seq
MIRT2050903	hsa-miR-583	CLIP-seq
MIRT2050868	hsa-miR-127-5p	CLIP-seq
MIRT2050892	hsa-miR-4660	CLIP-seq
MIRT2050904	hsa-miR-646	CLIP-seq
MIRT2050906	hsa-miR-935	CLIP-seq
MIRT2279995	hsa-miR-326	CLIP-seq
MIRT2279996	hsa-miR-330-5p	CLIP-seq
MIRT2578548	hsa-miR-3937	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IDA	12138188
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000779	Component	Condensed chromosome, centromeric region	IBA
GO:0000793	Component	Condensed chromosome	IDA	12138188
GO:0000794	Component	Condensed nuclear chromosome	ISO
GO:0000796	Component	Condensin complex	IBA
GO:0000796	Component	Condensin complex	IDA	11136719, 12138188
GO:0000796	Component	Condensin complex	IEA
GO:0000796	Component	Condensin complex	NAS	10958694, 17268547
GO:0005515	Function	Protein binding	IPI	12138188, 17268547, 24981860, 26496610, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	10958694
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	12138188
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	10958694
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007076	Process	Mitotic chromosome condensation	IBA
GO:0007076	Process	Mitotic chromosome condensation	IDA	11136719
GO:0007076	Process	Mitotic chromosome condensation	IEA
GO:0007076	Process	Mitotic chromosome condensation	IMP	27737959
GO:0007076	Process	Mitotic chromosome condensation	NAS	10958694
GO:0010032	Process	Meiotic chromosome condensation	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030261	Process	Chromosome condensation	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	12138188
GO:0042393	Function	Histone binding	NAS	10958694
GO:0051301	Process	Cell division	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	ISO
GO:1905820	Process	Positive regulation of chromosome separation	ISO
GO:1905821	Process	Positive regulation of chromosome condensation	IDA	17268547

Other IDs

• MIM: 615638
• HGNC: 24305
• e!Ensembl: ENSG00000010292

Protein

• UniProt ID: Q15021
• Protein name: Condensin complex subunit 1 (Chromosome condensation-related SMC-associated protein 1) (Chromosome-associated protein D2) (hCAP-D2) (Non-SMC condensin I complex subunit D2) (XCAP-D2 homolog)
• Protein function: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12922	Cnd1_N	75 → 240	non-SMC mitotic condensation complex subunit 1, N-term	Domain
  PF12717	Cnd1	1070 → 1231	non-SMC mitotic condensation complex subunit 1	Family

• Sequence:

  MAPQMYEFHLPLSPEELLKSGGVNQYVVQEVLSIKHLPPQLRAFQAAFRAQGPLAMLQHF
  DTIYSILHHFRSIDPGLKEDTLQFLIKVVSRHSQELPAILDDTTLSGSDRNAHLNALKMN
  CYALIRLLESFETMASQTNLVDLDLGGKGKKARTKAAHGFDWEEERQPILQLLTQLLQLD
  IRHLWNHSIIEEEFVSLVTGCCYRLLENPTINHQKNRPTREAITHLLGVALTRYNHMLSA
  TVKIIQMLQHFEHLAPVLVAAVSLWATDYGMKSIVGEIVREIGQKCPQELSRDPSGTKGF
  AAFLTELAERVPAILMSSMCILLDHLDGENYMMRNAVLAAMAEMVLQVLSGDQLEAAARD
  TRDQFLDTLQAHGHDVNSFVRSRVLQLFTRIVQQKALPLTRFQAVVALAVGRLADKSVLV
  CKNAIQLLASFLANNPFSCKLSDADLAGPLQKETQKLQEMRAQRRTAAASAVLDPEEEWE
  AMLPELKSTLQQLLQLPQGEEEIPEQIANTETTEDVKGRIYQLLAKASYKKAIILTREAT
  GHFQESEPFSHIDPEESEETRLLNILGLIFKGPAASTQEKNPRESTGNMVTGQTVCKNKP
  NMSDPEESRGNDELVKQEMLVQYLQDAYSFSRKITEAIGIISKMMYENTTTVVQEVIEFF
  VMVFQFGVPQALFGVRRMLPLIWSKEPGVREAVLNAYRQLYLNPKGDSARAKAQALIQNL
  SLLLVDASVGTIQCLEEILCEFVQKDELKPAVTQLLWERATEKVACCPLERCSSVMLLGM
  MARGKPEIVGSNLDTLVSIGLDEKFPQDYRLAQQVCHAIANISDRRKPSLGKRHPPFRLP
  QEHRLFERLRETVTKGFVHPDPLWIPFKEVAVTLIYQLAEGPEVICAQILQGCAKQALEK
  LEEKRTSQEDPKESPAMLPTFLLMNLLSLAGDVALQQLVHLEQAVSGELCRRRVLREEQE
  HKTKDPKEKNTSSETTMEEELGLVGATADDTEAELIRGICEMELLDGKQTLAAFVPLLLK
  VCNNPGLYSNPDLSAAASLALGKFCMISATFCDSQLRLLFTMLEKSPLPIVRSNLMVATG
  DLAIRFPNLVDPWTPHLYARLRDPAQQVRKTAGLVMTHLILKDMVKVKGQVSEMAVLLID
  PEPQIAALAKNFFNELSHKGNAIYNLLPDIISRLSDPELGVEEEPFHTIMKQLLSYITKD
  KQTESLVEKLCQRFRTSRTERQQRDLAYCVSQLPLTERGLRKMLDNFDCFGDKLSDESIF
  SAFLSVVGKLRRGAKPEGKAIIDEFEQKLRACHTRGLDGIKELEIGQAGSQRAPSAKKPS
  TGSRYQPLASTASDNDFVTPEPRRTTRRHPNTQQRASKKKPKVVFSSDESSEEDLSAEMT
  EDETPKKTTPILRASARRHRS

• Sequence length: 1401

Pathways

Reactome:

Condensation of Prometaphase Chromosomes

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
Microcephaly 21, primary, autosomal recessive	Likely pathogenic	rs772347389	RCV001825047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NCAPD2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18340469, 19451718	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35348268	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36701707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31885422	Stimulate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31610177	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31610177		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	27737959, 28097321		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37498296	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25166511		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	31056748		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37498296	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31610177		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31610177	Associate	★☆☆☆☆ Found in Text Mining only