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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29102
Gene name	Drosha ribonuclease III
Gene symbol	DROSHA
Synonyms (NCBI Gene)	ETOHI2HSA242976RANSE3LRN3RNASE3LRNASEN
Chromosome	5
Chromosome location	5p13.3
Summary	This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop

162

Show/Hide all (162)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023847	hsa-miR-1-3p	Proteomics	18668040
MIRT049958	hsa-miR-30a-5p	CLASH	23622248
MIRT047817	hsa-miR-30d-5p	CLASH	23622248
MIRT041036	hsa-miR-505-3p	CLASH	23622248
MIRT036738	hsa-miR-760	CLASH	23622248
MIRT543400	hsa-miR-148a-5p	PAR-CLIP	21572407
MIRT543399	hsa-miR-16-2-3p	PAR-CLIP	21572407
MIRT543398	hsa-miR-195-3p	PAR-CLIP	21572407
MIRT543397	hsa-miR-4660	PAR-CLIP	21572407
MIRT543396	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT543395	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT543394	hsa-miR-5047	PAR-CLIP	21572407
MIRT543393	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT526255	hsa-miR-8485	PAR-CLIP	22012620
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	22012620
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	22012620
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT526251	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT526250	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT526248	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT526247	hsa-miR-4290	PAR-CLIP	22012620
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	26701625
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	26701625
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	26701625
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	26701625
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	26701625
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	26701625
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	26701625
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	26701625
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	26701625
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	26701625
MIRT526248	hsa-miR-372-5p	PAR-CLIP	26701625
MIRT526248	hsa-miR-372-5p	PAR-CLIP	26701625
MIRT526248	hsa-miR-372-5p	PAR-CLIP	26701625
MIRT526248	hsa-miR-372-5p	PAR-CLIP	26701625
MIRT526248	hsa-miR-372-5p	PAR-CLIP	26701625
MIRT526251	hsa-miR-373-5p	PAR-CLIP	26701625
MIRT526251	hsa-miR-373-5p	PAR-CLIP	26701625
MIRT526251	hsa-miR-373-5p	PAR-CLIP	26701625
MIRT526251	hsa-miR-373-5p	PAR-CLIP	26701625
MIRT526251	hsa-miR-373-5p	PAR-CLIP	26701625
MIRT526247	hsa-miR-4290	PAR-CLIP	26701625
MIRT526247	hsa-miR-4290	PAR-CLIP	26701625
MIRT526247	hsa-miR-4290	PAR-CLIP	26701625
MIRT526247	hsa-miR-4290	PAR-CLIP	26701625
MIRT526247	hsa-miR-4290	PAR-CLIP	26701625
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT526250	hsa-miR-616-5p	PAR-CLIP	26701625
MIRT526250	hsa-miR-616-5p	PAR-CLIP	26701625
MIRT526250	hsa-miR-616-5p	PAR-CLIP	26701625
MIRT526250	hsa-miR-616-5p	PAR-CLIP	26701625
MIRT526250	hsa-miR-616-5p	PAR-CLIP	26701625
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	26701625
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	26701625
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	26701625
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	26701625
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	26701625
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	26701625
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	26701625
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	26701625
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	26701625
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	26701625
MIRT526255	hsa-miR-8485	PAR-CLIP	26701625
MIRT526255	hsa-miR-8485	PAR-CLIP	26701625
MIRT526255	hsa-miR-8485	PAR-CLIP	26701625
MIRT526255	hsa-miR-8485	PAR-CLIP	26701625
MIRT526255	hsa-miR-8485	PAR-CLIP	26701625
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	27292025
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	27292025
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	27292025
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	27292025
MIRT526248	hsa-miR-372-5p	PAR-CLIP	27292025
MIRT526248	hsa-miR-372-5p	PAR-CLIP	27292025
MIRT526251	hsa-miR-373-5p	PAR-CLIP	27292025
MIRT526251	hsa-miR-373-5p	PAR-CLIP	27292025
MIRT526247	hsa-miR-4290	PAR-CLIP	27292025
MIRT526247	hsa-miR-4290	PAR-CLIP	27292025
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	27292025
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	27292025
MIRT526250	hsa-miR-616-5p	PAR-CLIP	27292025
MIRT526250	hsa-miR-616-5p	PAR-CLIP	27292025
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	27292025
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	27292025
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	27292025
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	27292025
MIRT526255	hsa-miR-8485	PAR-CLIP	27292025
MIRT526255	hsa-miR-8485	PAR-CLIP	27292025
MIRT543400	hsa-miR-148a-5p	PAR-CLIP	21572407
MIRT543399	hsa-miR-16-2-3p	PAR-CLIP	21572407
MIRT543398	hsa-miR-195-3p	PAR-CLIP	21572407
MIRT543397	hsa-miR-4660	PAR-CLIP	21572407
MIRT543396	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT543395	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT543394	hsa-miR-5047	PAR-CLIP	21572407
MIRT543393	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT526257	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT526255	hsa-miR-8485	PAR-CLIP	22012620
MIRT526256	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT526254	hsa-miR-6872-3p	PAR-CLIP	22012620
MIRT526253	hsa-miR-6892-3p	PAR-CLIP	22012620
MIRT526252	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT526251	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT526250	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT526249	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT526248	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT526247	hsa-miR-4290	PAR-CLIP	22012620
MIRT945399	hsa-miR-106a	CLIP-seq
MIRT945400	hsa-miR-106b	CLIP-seq
MIRT945401	hsa-miR-17	CLIP-seq
MIRT945402	hsa-miR-20a	CLIP-seq
MIRT945403	hsa-miR-20b	CLIP-seq
MIRT945404	hsa-miR-299-5p	CLIP-seq
MIRT945405	hsa-miR-325	CLIP-seq
MIRT945406	hsa-miR-3609	CLIP-seq
MIRT945407	hsa-miR-3614-5p	CLIP-seq
MIRT945408	hsa-miR-3689a-3p	CLIP-seq
MIRT945409	hsa-miR-3689c	CLIP-seq
MIRT945410	hsa-miR-4728-5p	CLIP-seq
MIRT945411	hsa-miR-4796-3p	CLIP-seq
MIRT945412	hsa-miR-502-5p	CLIP-seq
MIRT945413	hsa-miR-519d	CLIP-seq
MIRT945414	hsa-miR-548ah	CLIP-seq
MIRT945415	hsa-miR-595	CLIP-seq
MIRT945416	hsa-miR-617	CLIP-seq
MIRT945417	hsa-miR-628-3p	CLIP-seq
MIRT945418	hsa-miR-644	CLIP-seq
MIRT945419	hsa-miR-663b	CLIP-seq
MIRT945420	hsa-miR-93	CLIP-seq
MIRT945421	hsa-miR-1206	CLIP-seq
MIRT945422	hsa-miR-3616-5p	CLIP-seq
MIRT945423	hsa-miR-3647-5p	CLIP-seq
MIRT945424	hsa-miR-4635	CLIP-seq
MIRT945425	hsa-miR-573	CLIP-seq
MIRT1979878	hsa-miR-128	CLIP-seq
MIRT1979879	hsa-miR-132	CLIP-seq
MIRT1979880	hsa-miR-212	CLIP-seq
MIRT1979881	hsa-miR-27a	CLIP-seq
MIRT1979882	hsa-miR-27b	CLIP-seq
MIRT1979883	hsa-miR-4704-3p	CLIP-seq
MIRT1979884	hsa-miR-4709-5p	CLIP-seq
MIRT1979885	hsa-miR-935	CLIP-seq
MIRT1979878	hsa-miR-128	CLIP-seq
MIRT1979879	hsa-miR-132	CLIP-seq
MIRT1979880	hsa-miR-212	CLIP-seq
MIRT1979881	hsa-miR-27a	CLIP-seq
MIRT1979882	hsa-miR-27b	CLIP-seq
MIRT1979883	hsa-miR-4704-3p	CLIP-seq
MIRT1979884	hsa-miR-4709-5p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
E2F1	Activation	24909689

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IDA	20180804
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	31507089
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IEA
GO:0004525	Function	Ribonuclease III activity	IBA
GO:0004525	Function	Ribonuclease III activity	IDA	14508493, 15574589
GO:0004525	Function	Ribonuclease III activity	IEA
GO:0005515	Function	Protein binding	IPI	15574589, 18548003, 19626115, 22222205, 22796965, 23232809, 23995758, 24219989, 24581491, 26496610, 33961781, 35914814, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0006396	Process	RNA processing	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010586	Process	MiRNA metabolic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	18548003
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031053	Process	Primary miRNA processing	IBA
GO:0031053	Process	Primary miRNA processing	IDA	14508493, 15574589
GO:0031053	Process	Primary miRNA processing	IMP	14508493
GO:0031054	Process	Pre-miRNA processing	IBA
GO:0031054	Process	Pre-miRNA processing	IEA
GO:0031054	Process	Pre-miRNA processing	IEA
GO:0035196	Process	MiRNA processing	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15574589
GO:0043226	Component	Organelle	IEA
GO:0045589	Process	Regulation of regulatory T cell differentiation	IEA
GO:0046332	Function	SMAD binding	IPI	18548003
GO:0046872	Function	Metal ion binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	20180804
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	20180804
GO:0070412	Function	R-SMAD binding	IPI	18548003
GO:0070877	Component	Microprocessor complex	IBA
GO:0070877	Component	Microprocessor complex	IDA	15574589
GO:0070877	Component	Microprocessor complex	IPI	24581491
GO:0070878	Function	Primary miRNA binding	IEA
GO:0070878	Function	Primary miRNA binding	IPI	31507089
GO:0070878	Function	Primary miRNA binding	NAS	15574589
GO:0098978	Component	Glutamatergic synapse	IEA
GO:2000628	Process	Regulation of miRNA metabolic process	IEA

MIM	HGNC	e!Ensembl
608828	17904	ENSG00000113360

Q9NRR4

Protein name

Ribonuclease 3 (EC 3.1.26.3) (Protein Drosha) (Ribonuclease III) (RNase III) (p241)

Protein function

Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) t

PDB

2KHX , 2NA2 , 5B16 , 6LXD , 6LXE , 6V5B , 6V5C , 9ASM , 9ASN , 9ASO , 9ASP , 9ASQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14622	Ribonucleas_3_3	958 → 1071	Ribonuclease-III-like	Family
PF00636	Ribonuclease_3	1144 → 1233	Ribonuclease III domain	Family
PF00035	dsrm	1261 → 1332	Double-stranded RNA binding motif	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10948199}.

Sequence

MMQGNTCHRMSFHPGRGCPRGRGGHGARPSAPSFRPQNLRLLHPQQPPVQYQYEPPSAPS
TTFSNSPAPNFLPPRPDFVPFPPPMPPSAQGPLPPCPIRPPFPNHQMRHPFPVPPCFPPM
PPPMPCPNNPPVPGAPPGQGTFPFMMPPPSMPHPPPPPVMPQQVNYQYPPGYSHHNFPPP
SFNSFQNNPSSFLPSANNSSSPHFRHLPPYPLPKAPSERRSPERLKHYDDHRHRDHSHGR
GERHRSLDRRERGRSPDRRRQDSRYRSDYDRGRTPSRHRSYERSRERERERHRHRDNRRS
PSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNHRSPSREK
KRARWEEEKDRWSDNQSSGKDKNYTSIKEKEPEETMPDKNEEEEEELLKPVWIRCTHSEN
YYSSDPMDQVGDSTVVGTSRLRDLYDKFEEELGSRQEKAKAARPPWEPPKTKLDEDLESS
SESECESDEDSTCSSSSDSEVFDVIAEIKRKKAHPDRLHDELWYNDPGQMNDGPLCKCSA
KARRTGIRHSIYPGEEAIKPCRPMTNNAGRLFHYRITVSPPTNFLTDRPTVIEYDDHEYI
FEGFSMFAHAPLTNIPLCKVIRFNIDYTIHFIEEMMPENFCVKGLELFSLFLFRDILELY
DWNLKGPLFEDSPPCCPRFHFMPRFVRFLPDGGKEVLSMHQILLYLLRCSKALVPEEEIA
NMLQWEELEWQKYAEECKGMIVTNPGTKPSSVRIDQLDREQFNPDVITFPIIVHFGIRPA
QLSYAGDPQYQKLWKSYVKLRHLLANSPKVKQTDKQKLAQREEALQKIRQKNTMRREVTV
ELSSQGFWKTGIRSDVCQHAMMLPVLTHHIRYHQCLMHLDKLIGYTFQDRCLLQLAMTHP
SHHLNFGMNPDHARNSLSNCGIRQPKYGDRKVHHMHMRKKGINTLINIMSRLGQDDPTPS
RINHNERLEFLGDAVVEFLTSVHLYYLFPSLEEGGLATYRTAIVQNQHLAMLAKKLELDR
FMLYAHGPDLCRESDLRHAMANCFEALIGAVYLEGSLEEAKQLFGRLLFNDPDLREVWLN
YPLHPLQLQEPNTDRQLIETSPVLQKLTEFEEAIGVIFTHVRLLARAFTLRTVGFNHLTL
GHNQRMEFLGDSIMQLVATEYLFIHFPDHHEGHLTLLRSSLVNNRTQAKVAEELGMQEYA
ITNDKTKRPVALRTKTLADLLESFIAALYIDKDLEYVHTFMNVCFFPRLKEFILNQDWND
PKSQLQQCCLTLRTEGKEPDIPLYKTLQTVGPSHARTYTVAVYFKGERIGCGKGPSIQQA
EMGAAMDALEKYNFPQMAHQKRFIERKYRQELKEMRWEREHQEREPDETEDIKK

Sequence length

1374

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes Proteoglycans in cancer		MicroRNA (miRNA) biogenesis

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary breast ovarian cancer syndrome	Pathogenic	rs2150052710	RCV001374505	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
Abnormality of neuronal migration	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NERVOUS SYSTEM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DROSHA-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DROSHA-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	23349018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21102586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23671264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	23671264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25756586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	27519051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33620673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24312312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	38200156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25390939, 27380242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21898071, 22639842, 24574065, 25390939, 27380242, 28598829, 36911928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29475968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23671264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21319996, 27611467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24312312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21102586, 26156018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26867589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	18256189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28448850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23974981, 25793711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26147304, 28943952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23266047, 31510013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement component deficiency	Pubtator	21533284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35405010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	31517606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25295740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26147304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26147304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21559780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21559780, 36515351, 37890416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36983035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35405010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	29428937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29428937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17121874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	28214904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	28214904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	37099569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33758101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33758101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	30367465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	27808570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	27808570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	27808570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	26240498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	27808570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27808570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	35869509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26147304, 28214904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26147304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31434287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	31145039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35405010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32770606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26688807, 28155978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	36142557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17581865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27611467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21102586, 26156018, 29236960, 31115013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24725360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22102710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22102710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	31055868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25390939, 27380242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21559780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21102586, 26156018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24312312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20232482, 21102586, 21766210, 26156018, 27421140, 28448850, 28916654, 30838030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23763827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22496623	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	23370771	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	23370771	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35405010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35561450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	22371183		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22371183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22371183, 33730109, 34287278, 34572006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21953080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20083228, 22187960, 23349018, 23921383, 24839956, 25190313, 25670082, 25670083, 26802027, 26934318, 28448850, 30341811, 31250375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	24909261, 26802027, 30367465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20805302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23349018, 26156018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	23549446		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	19092150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19092150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31250375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28842646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	30030436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleuropulmonary blastoma	Pleuropulmonary blastoma	BEFREE	22187960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28524158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28524158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23015298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sertoli-Leydig cell tumor of ovary	Sertoli-Leydig Cell Tumor	BEFREE	21205968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29784949, 29967434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24292195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21453382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28252644, 36210981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31250375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	27808570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	27808570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	25756586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22259182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24725360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24312312, 25656609, 29857476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18559093, 28448850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	31374978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	25190313, 25670082, 25670083, 26655220, 26802027, 28825729, 33208384	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DROSHA (drosha ribonuclease III)