Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	699
Gene name	BUB1 mitotic checkpoint serine/threonine kinase
Gene symbol	BUB1
Synonyms (NCBI Gene)	BUB1ABUB1LMCPH30hBUB1
Chromosome	2
Chromosome location	2q13
Summary	This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a ro

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587776642	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs794729661	C>T	Pathogenic	Splice donor variant

197

Show/Hide all (197)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007183	hsa-miR-450a-1-3p	qRT-PCRWestern blot	23110129
MIRT048279	hsa-miR-196a-5p	CLASH	23622248
MIRT045266	hsa-miR-186-5p	CLASH	23622248
MIRT042691	hsa-miR-196b-5p	CLASH	23622248
MIRT053536	hsa-miR-10b-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23125021
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	21572407
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT606887	hsa-miR-3941	HITS-CLIP	21572407
MIRT606886	hsa-miR-4672	HITS-CLIP	21572407
MIRT606885	hsa-miR-466	HITS-CLIP	21572407
MIRT606884	hsa-miR-4455	HITS-CLIP	21572407
MIRT606883	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT606887	hsa-miR-3941	HITS-CLIP	23824327
MIRT606886	hsa-miR-4672	HITS-CLIP	23824327
MIRT606885	hsa-miR-466	HITS-CLIP	23824327
MIRT606884	hsa-miR-4455	HITS-CLIP	23824327
MIRT606883	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT606887	hsa-miR-3941	HITS-CLIP	23824327
MIRT606886	hsa-miR-4672	HITS-CLIP	23824327
MIRT606885	hsa-miR-466	HITS-CLIP	23824327
MIRT606884	hsa-miR-4455	HITS-CLIP	23824327
MIRT606883	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT606890	hsa-miR-595	HITS-CLIP	24906430
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	24906430
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT606887	hsa-miR-3941	HITS-CLIP	24906430
MIRT606886	hsa-miR-4672	HITS-CLIP	24906430
MIRT606885	hsa-miR-466	HITS-CLIP	24906430
MIRT606884	hsa-miR-4455	HITS-CLIP	24906430
MIRT606883	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT562859	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT562858	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT539653	hsa-miR-548aa	PAR-CLIP	21572407
MIRT539652	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT539651	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT539650	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT525914	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT539649	hsa-miR-193a-3p	PAR-CLIP	21572407
MIRT539648	hsa-miR-193b-3p	PAR-CLIP	21572407
MIRT539647	hsa-miR-5680	PAR-CLIP	21572407
MIRT539646	hsa-miR-1323	PAR-CLIP	21572407
MIRT539645	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT539644	hsa-miR-3919	PAR-CLIP	21572407
MIRT539643	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT539642	hsa-miR-3190-5p	PAR-CLIP	21572407
MIRT539641	hsa-miR-539-5p	PAR-CLIP	21572407
MIRT539639	hsa-miR-6847-3p	PAR-CLIP	21572407
MIRT539640	hsa-miR-4529-5p	PAR-CLIP	21572407
MIRT539638	hsa-miR-653-3p	PAR-CLIP	21572407
MIRT539637	hsa-miR-3187-3p	PAR-CLIP	21572407
MIRT525914	hsa-miR-551b-5p	PAR-CLIP	22012620
MIRT525913	hsa-miR-3159	PAR-CLIP	22012620
MIRT525912	hsa-miR-885-5p	PAR-CLIP	22012620
MIRT525911	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT525910	hsa-miR-6861-5p	PAR-CLIP	22012620
MIRT525909	hsa-miR-503-3p	PAR-CLIP	22012620
MIRT525908	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT512399	hsa-miR-4302	PAR-CLIP	22012620
MIRT512398	hsa-miR-145-3p	PAR-CLIP	22012620
MIRT512397	hsa-miR-298	PAR-CLIP	22012620
MIRT512396	hsa-miR-6717-5p	PAR-CLIP	22012620
MIRT512394	hsa-miR-8053	PAR-CLIP	22012620
MIRT512395	hsa-miR-644a	PAR-CLIP	22012620
MIRT512393	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT512392	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT525907	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT525906	hsa-miR-4282	PAR-CLIP	22012620
MIRT525905	hsa-miR-6871-5p	PAR-CLIP	22012620
MIRT525904	hsa-miR-4714-3p	PAR-CLIP	22012620
MIRT525903	hsa-miR-6878-5p	PAR-CLIP	22012620
MIRT525902	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT525901	hsa-miR-8085	PAR-CLIP	22012620
MIRT525900	hsa-miR-106a-3p	PAR-CLIP	22012620
MIRT525899	hsa-miR-30c-1-3p	PAR-CLIP	22012620
MIRT525898	hsa-miR-30c-2-3p	PAR-CLIP	22012620
MIRT525897	hsa-miR-6788-5p	PAR-CLIP	22012620
MIRT525896	hsa-miR-450b-5p	PAR-CLIP	22012620
MIRT525895	hsa-miR-507	PAR-CLIP	22012620
MIRT525894	hsa-miR-557	PAR-CLIP	22012620
MIRT525893	hsa-miR-3680-3p	PAR-CLIP	22012620
MIRT525892	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT525891	hsa-miR-4713-3p	PAR-CLIP	22012620
MIRT525890	hsa-miR-638	PAR-CLIP	22012620
MIRT525889	hsa-miR-450b-3p	PAR-CLIP	22012620
MIRT525888	hsa-miR-769-3p	PAR-CLIP	22012620
MIRT512399	hsa-miR-4302	PAR-CLIP	23446348
MIRT512398	hsa-miR-145-3p	PAR-CLIP	23446348
MIRT512397	hsa-miR-298	PAR-CLIP	23446348
MIRT512396	hsa-miR-6717-5p	PAR-CLIP	23446348
MIRT512394	hsa-miR-8053	PAR-CLIP	23446348
MIRT512395	hsa-miR-644a	PAR-CLIP	23446348
MIRT512393	hsa-miR-1273h-3p	PAR-CLIP	23446348
MIRT512392	hsa-miR-3678-3p	PAR-CLIP	23446348
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	21572407
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT606887	hsa-miR-3941	HITS-CLIP	21572407
MIRT606886	hsa-miR-4672	HITS-CLIP	21572407
MIRT606885	hsa-miR-466	HITS-CLIP	21572407
MIRT606884	hsa-miR-4455	HITS-CLIP	21572407
MIRT606883	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT606887	hsa-miR-3941	HITS-CLIP	23824327
MIRT606886	hsa-miR-4672	HITS-CLIP	23824327
MIRT606885	hsa-miR-466	HITS-CLIP	23824327
MIRT606884	hsa-miR-4455	HITS-CLIP	23824327
MIRT606883	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT606889	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT606888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT606887	hsa-miR-3941	HITS-CLIP	23824327
MIRT606886	hsa-miR-4672	HITS-CLIP	23824327
MIRT606885	hsa-miR-466	HITS-CLIP	23824327
MIRT606884	hsa-miR-4455	HITS-CLIP	23824327
MIRT606883	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT562859	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT562858	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT539653	hsa-miR-548aa	PAR-CLIP	21572407
MIRT539652	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT539651	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT539650	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT525914	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT539649	hsa-miR-193a-3p	PAR-CLIP	21572407
MIRT539648	hsa-miR-193b-3p	PAR-CLIP	21572407
MIRT539647	hsa-miR-5680	PAR-CLIP	21572407
MIRT539646	hsa-miR-1323	PAR-CLIP	21572407
MIRT539645	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT539644	hsa-miR-3919	PAR-CLIP	21572407
MIRT539643	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT539642	hsa-miR-3190-5p	PAR-CLIP	21572407
MIRT539641	hsa-miR-539-5p	PAR-CLIP	21572407
MIRT539639	hsa-miR-6847-3p	PAR-CLIP	21572407
MIRT539640	hsa-miR-4529-5p	PAR-CLIP	21572407
MIRT539638	hsa-miR-653-3p	PAR-CLIP	21572407
MIRT539637	hsa-miR-3187-3p	PAR-CLIP	21572407
MIRT525914	hsa-miR-551b-5p	PAR-CLIP	22012620
MIRT525913	hsa-miR-3159	PAR-CLIP	22012620
MIRT525912	hsa-miR-885-5p	PAR-CLIP	22012620
MIRT525911	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT525910	hsa-miR-6861-5p	PAR-CLIP	22012620
MIRT525909	hsa-miR-503-3p	PAR-CLIP	22012620
MIRT525908	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT512399	hsa-miR-4302	PAR-CLIP	22012620
MIRT512398	hsa-miR-145-3p	PAR-CLIP	22012620
MIRT512397	hsa-miR-298	PAR-CLIP	22012620
MIRT512396	hsa-miR-6717-5p	PAR-CLIP	22012620
MIRT512394	hsa-miR-8053	PAR-CLIP	22012620
MIRT512395	hsa-miR-644a	PAR-CLIP	22012620
MIRT512393	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT512392	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT525907	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT525906	hsa-miR-4282	PAR-CLIP	22012620
MIRT525905	hsa-miR-6871-5p	PAR-CLIP	22012620
MIRT525904	hsa-miR-4714-3p	PAR-CLIP	22012620
MIRT525903	hsa-miR-6878-5p	PAR-CLIP	22012620
MIRT525902	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT525901	hsa-miR-8085	PAR-CLIP	22012620
MIRT525900	hsa-miR-106a-3p	PAR-CLIP	22012620
MIRT525899	hsa-miR-30c-1-3p	PAR-CLIP	22012620
MIRT525898	hsa-miR-30c-2-3p	PAR-CLIP	22012620
MIRT525897	hsa-miR-6788-5p	PAR-CLIP	22012620
MIRT525896	hsa-miR-450b-5p	PAR-CLIP	22012620
MIRT525895	hsa-miR-507	PAR-CLIP	22012620
MIRT525894	hsa-miR-557	PAR-CLIP	22012620
MIRT525893	hsa-miR-3680-3p	PAR-CLIP	22012620
MIRT525892	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT525891	hsa-miR-4713-3p	PAR-CLIP	22012620
MIRT525890	hsa-miR-638	PAR-CLIP	22012620
MIRT525889	hsa-miR-450b-3p	PAR-CLIP	22012620
MIRT525888	hsa-miR-769-3p	PAR-CLIP	22012620
MIRT512399	hsa-miR-4302	PAR-CLIP	23446348
MIRT512398	hsa-miR-145-3p	PAR-CLIP	23446348
MIRT512397	hsa-miR-298	PAR-CLIP	23446348
MIRT512396	hsa-miR-6717-5p	PAR-CLIP	23446348
MIRT512394	hsa-miR-8053	PAR-CLIP	23446348
MIRT512395	hsa-miR-644a	PAR-CLIP	23446348
MIRT512393	hsa-miR-1273h-3p	PAR-CLIP	23446348
MIRT512392	hsa-miR-3678-3p	PAR-CLIP	23446348
MIRT827636	hsa-miR-106a	CLIP-seq
MIRT827637	hsa-miR-106b	CLIP-seq
MIRT827638	hsa-miR-1279	CLIP-seq
MIRT827639	hsa-miR-17	CLIP-seq
MIRT827640	hsa-miR-20a	CLIP-seq
MIRT827641	hsa-miR-20b	CLIP-seq
MIRT827642	hsa-miR-3609	CLIP-seq
MIRT827643	hsa-miR-4468	CLIP-seq
MIRT827644	hsa-miR-4699-3p	CLIP-seq
MIRT827645	hsa-miR-4796-3p	CLIP-seq
MIRT827646	hsa-miR-519d	CLIP-seq
MIRT827647	hsa-miR-548ah	CLIP-seq
MIRT827648	hsa-miR-93	CLIP-seq
MIRT1944900	hsa-miR-3169	CLIP-seq
MIRT1944901	hsa-miR-4477b	CLIP-seq
MIRT1944902	hsa-miR-4796-5p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	15020684, 16760428, 17227893, 19465021, 22331848
GO:0000776	Component	Kinetochore	IEA
GO:0000940	Component	Outer kinetochore	IDA	22331848
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IDA	18995837, 22331848
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	22331848
GO:0004672	Function	Protein kinase activity	TAS	10198256
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	25308863, 26658523, 30429199
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10198256, 14732683, 15525512, 16189514, 16760428, 17981135, 19141287, 20360068, 21988832, 22331848, 22660415, 25416956, 25852190, 26496610, 28514442, 31515488, 32296183, 33961781, 34013668, 35044719, 39009827
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007063	Process	Regulation of sister chromatid cohesion	IDA	15723797
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IBA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	18995837
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	TAS	9790499
GO:0016020	Component	Membrane	HDA	19946888
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0051301	Process	Cell division	IEA
GO:0051754	Process	Meiotic sister chromatid cohesion, centromeric	IBA
GO:0051983	Process	Regulation of chromosome segregation	IMP	19487456
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140995	Function	Histone H2A kinase activity	IDA	26658523
GO:2000720	Process	Positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric	IMP	25308863

MIM	HGNC	e!Ensembl
602452	1148	ENSG00000169679

O43683

Protein name

Mitotic checkpoint serine/threonine-protein kinase BUB1 (hBUB1) (EC 2.7.11.1) (BUB1A)

Protein function

Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kineto

PDB

2LAH , 4A1G , 4QPM , 4R8Q , 5DMZ , 6F7B , 7B1F , 7B1H , 7B1J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08311	Mad3_BUB1_I	6 → 126	Mad3/BUB1 homology region 1	Domain
PF00069	Pkinase	787 → 1032	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: High expression in testis and thymus, less in colon, spleen, lung and small intestine. Expressed in fetal thymus, bone marrow, heart, liver, spleen and thymus. Expression is associated with cells/tissues with a high mitotic index.

Sequence

MDTPENVLQMLEAHMQSYKGNDPLGEWERYIQWVEENFPENKEYLITLLEHLMKEFLDKK
KYHNDPRFISYCLKFAEYNSDLHQFFEFLYNHGIGTLSSPLYIAWAGHLEAQGELQHASA
VLQRGIQNQAEPREFLQQQYRLFQTRLTETHLPAQARTSEPLHNVQVLNQMITSKSNPGN
NMACISKNQGSELSGVISSACDKESNMERRVITISKSEYSVHSSLASKVDVEQVVMYCKE
KLIRGESEFSFEELRAQKYNQRRKHEQWVNEDRHYMKRKEANAFEEQLLKQKMDELHKKL
HQVVETSHEDLPASQERSEVNPARMGPSVGSQQELRAPCLPVTYQQTPVNMEKNPREAPP
VVPPLANAISAALVSPATSQSIAPPVPLKAQTVTDSMFAVASKDAGCVNKSTHEFKPQSG
AEIKEGCETHKVANTSSFHTTPNTSLGMVQATPSKVQPSPTVHTKEALGFIMNMFQAPTL
PDISDDKDEWQSLDQNEDAFEAQFQKNVRSSGAWGVNKIISSLSSAFHVFEDGNKENYGL
PQPKNKPTGARTFGERSVSRLPSKPKEEVPHAEEFLDDSTVWGIRCNKTLAPSPKSPGDF
TSAAQLASTPFHKLPVESVHILEDKENVVAKQCTQATLDSCEENMVVPSRDGKFSPIQEK
SPKQALSSHMYSASLLRLSQPAAGGVLTCEAELGVEACRLTDTDAAIAEDPPDAIAGLQA
EWMQMSSLGTVDAPNFIVGNPWDDKLIFKLLSGLSKPVSSYPNTFEWQCKLPAIKPKTEF
QLGSKLVYVHHLLGEGAFAQVYEATQGDLNDAKNKQKFVLKVQKPANPWEFYIGTQLMER
LKPSMQHMFMKFYSAHLFQNGSVLVGELYSYGTLLNAINLYKNTPEKVMPQGLVISFAMR
MLYMIEQVHDCEIIHGDIKPDNFILGNGFLEQDDEDDLSAGLALIDLGQSIDMKLFPKGT
IFTAKCETSGFQCVEMLSNKPWNYQIDYFGVAATVYCMLFGTYMKVKNEGGECKPEGLFR
RLPHLDMWNEFFHVMLNIPDCHHLPSLDLLRQKLKKVFQQHYTNKIRALRNRLIVLLLEC
KRSRK

Sequence length

1085

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carcinoma of colon	Pathogenic	rs587776642	RCV000007151	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer with chromosomal instability, somatic	Pathogenic	rs794729661, rs121909055	RCV000007498 RCV000007499	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 30, primary, autosomal recessive	Pathogenic	rs1479870307, rs2467990507	RCV002472384 RCV002472385	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BUB1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar ClinGen, ClinVar, GenCC, HPO ClinGen, ClinVar, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL COLORECTAL CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (180)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12096343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10992296, 15013707, 29100315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	16525682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18383837, 18782851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32147961, 32923148, 38053725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10960763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	18383837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	17620410, 23440991, 26608463, 29448935, 35044816, 40069598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30898709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	18383837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24650168, 28254236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28254236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	35044816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35219767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	15013707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	15013707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11400114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10773412, 12096343, 14517964, 23288590, 24711138, 26287798, 26522589, 26897635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23288590, 24711138, 25999348, 26287798, 33285689, 35447458, 35456460, 35493295, 36930083, 40183319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28901457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11115566, 11410785, 11641614, 11782350, 11940046, 18791270, 24756216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28901457, 29728556, 29843214, 30272310, 31737652, 34257549, 34603487, 34696748, 35493295, 36317111, 40069598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26349752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10395177, 10992296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34794761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18791270, 26061684, 30822312, 34606125, 35896362, 40081509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26349752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26349752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33477943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23383610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	9521327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	10543255, 32337580, 40069598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31018621		★★★★★ ★☆☆☆☆ 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	10773412, 11782350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10773412, 10969775, 11115566, 11410785, 12096343, 17643075, 23440991, 23747338, 27713038, 29448935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11782350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23440991, 29448935, 31315522, 35757968, 37044020, 40018943	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35044816, 39490209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	7726160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	29448935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37853361, 39596419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32443386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	18383837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	23440991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	11355300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11355300, 23728478, 30655863, 31272759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18694480, 32467990, 34180136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11355300, 23728478, 30655863, 31272759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22022424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31272759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33148251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28254236, 35044816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	34545328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24741095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29608549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	40723917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11999574, 12096343, 12417757, 15935816		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12096343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12417757	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11999574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	11999574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	40723917	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11400114, 28810242, 31410029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	27552964, 28254236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10992296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26349752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	12096343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12096343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12096343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10773412, 12096343, 23288590, 24711138, 26287798, 26522589, 26897635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	11641614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10395177, 10992296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23383610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12655561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17189386, 23778407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12692836, 14743503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11940046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10992296, 11400114, 14743503, 16525682, 16760651, 17189386, 18451172, 22033440, 23128250, 24741095, 24756216, 26522589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10773412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16116595	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	35044816, 39490209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	20643875		★★★★★ ★☆☆☆☆ Found in Text Mining only
mosaic variegated aneuploidy	Mosaic Variegated Aneuploidy	BEFREE	23747338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic Variegated Aneuploidy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mosaic variegated aneuploidy syndrome	Mosaic Variegated Aneuploidy	BEFREE	29448935		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	29448935, 35044816	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	ORPHANET_DG	23747338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	BEFREE	29448935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	11250674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	40455761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	16525682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	7657592, 7726160, 8285579, 8499920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	7726160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	7726160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35509856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10395177, 10543255, 10969775, 10992296, 11400114, 11641614, 16525682, 18791270, 21646403, 22033440, 23728478, 23778407, 26102504, 29100315, 31272759, 31315522 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10969775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26096802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33153400, 40723917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23383610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23383610, 31010415, 34013367, 37304238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	24756216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12655561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30898709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12655561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35769782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	12737950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	30822312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28254236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	15622488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	Pubtator	27552964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12096343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17189386, 23778407		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34198380, 34497666, 35659274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33416099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	10543255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18791270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	33217867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33872216, 35493295, 40723917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	40723917	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	39259097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29608549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	16116595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33186389	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	39232038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10395177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11410785, 14743503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11940046, 18383837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	30213925, 31183379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11940046, 18383837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18383837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18383837, 37745716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35627287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33217824	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34884561, 36181054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	35008799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	35757968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

BUB1 (BUB1 mitotic checkpoint serine/threonine kinase)