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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2615
Gene name	Leucine rich repeat containing 32
Gene symbol	LRRC32
Synonyms (NCBI Gene)	CPPRDDD11S833EGARP
Chromosome	11
Chromosome location	11q13.5
Summary	This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]

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Show/Hide all (254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017818	hsa-miR-335-5p	Microarray	18185580
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT438904	hsa-miR-142-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23650616
MIRT1119473	hsa-miR-146b-3p	CLIP-seq
MIRT1119474	hsa-miR-19a	CLIP-seq
MIRT1119475	hsa-miR-19b	CLIP-seq
MIRT1119476	hsa-miR-2277-3p	CLIP-seq
MIRT1119477	hsa-miR-2355-5p	CLIP-seq
MIRT1119478	hsa-miR-3202	CLIP-seq
MIRT1119479	hsa-miR-3679-3p	CLIP-seq
MIRT1119480	hsa-miR-3942-3p	CLIP-seq
MIRT1119481	hsa-miR-4328	CLIP-seq
MIRT1119482	hsa-miR-4428	CLIP-seq
MIRT1119483	hsa-miR-4533	CLIP-seq
MIRT1119484	hsa-miR-4646-5p	CLIP-seq
MIRT1119485	hsa-miR-4747-5p	CLIP-seq
MIRT1119486	hsa-miR-542-3p	CLIP-seq
MIRT1119487	hsa-miR-1184	CLIP-seq
MIRT1119488	hsa-miR-1229	CLIP-seq
MIRT1119489	hsa-miR-1254	CLIP-seq
MIRT1119490	hsa-miR-1256	CLIP-seq
MIRT1119491	hsa-miR-1301	CLIP-seq
MIRT1119473	hsa-miR-146b-3p	CLIP-seq
MIRT1119492	hsa-miR-183	CLIP-seq
MIRT1119493	hsa-miR-185	CLIP-seq
MIRT1119494	hsa-miR-216a	CLIP-seq
MIRT1119495	hsa-miR-22	CLIP-seq
MIRT1119476	hsa-miR-2277-3p	CLIP-seq
MIRT1119496	hsa-miR-3116	CLIP-seq
MIRT1119497	hsa-miR-3192	CLIP-seq
MIRT1119498	hsa-miR-4306	CLIP-seq
MIRT1119499	hsa-miR-4464	CLIP-seq
MIRT1119500	hsa-miR-4644	CLIP-seq
MIRT1119484	hsa-miR-4646-5p	CLIP-seq
MIRT1119501	hsa-miR-4660	CLIP-seq
MIRT1119485	hsa-miR-4747-5p	CLIP-seq
MIRT1119502	hsa-miR-4748	CLIP-seq
MIRT1119503	hsa-miR-4763-5p	CLIP-seq
MIRT1119504	hsa-miR-5047	CLIP-seq
MIRT1119486	hsa-miR-542-3p	CLIP-seq
MIRT1119505	hsa-miR-661	CLIP-seq
MIRT1119490	hsa-miR-1256	CLIP-seq
MIRT1119493	hsa-miR-185	CLIP-seq
MIRT2033759	hsa-miR-198	CLIP-seq
MIRT2033760	hsa-miR-2278	CLIP-seq
MIRT2033761	hsa-miR-3616-3p	CLIP-seq
MIRT1119498	hsa-miR-4306	CLIP-seq
MIRT1119500	hsa-miR-4644	CLIP-seq
MIRT2033762	hsa-miR-4693-3p	CLIP-seq
MIRT2033763	hsa-miR-4722-5p	CLIP-seq
MIRT2033764	hsa-miR-4768-3p	CLIP-seq
MIRT2033765	hsa-miR-520a-5p	CLIP-seq
MIRT2033766	hsa-miR-525-5p	CLIP-seq
MIRT2033759	hsa-miR-198	CLIP-seq
MIRT2033760	hsa-miR-2278	CLIP-seq
MIRT2033763	hsa-miR-4722-5p	CLIP-seq
MIRT2033764	hsa-miR-4768-3p	CLIP-seq
MIRT2264201	hsa-miR-4790-3p	CLIP-seq
MIRT2033765	hsa-miR-520a-5p	CLIP-seq
MIRT2033766	hsa-miR-525-5p	CLIP-seq
MIRT2264202	hsa-miR-615-5p	CLIP-seq
MIRT1119487	hsa-miR-1184	CLIP-seq
MIRT2563256	hsa-miR-122	CLIP-seq
MIRT2563257	hsa-miR-1225-3p	CLIP-seq
MIRT2563258	hsa-miR-1228	CLIP-seq
MIRT2563259	hsa-miR-1233	CLIP-seq
MIRT1119489	hsa-miR-1254	CLIP-seq
MIRT2563260	hsa-miR-1262	CLIP-seq
MIRT2563261	hsa-miR-1272	CLIP-seq
MIRT2563262	hsa-miR-1285	CLIP-seq
MIRT1119491	hsa-miR-1301	CLIP-seq
MIRT2563263	hsa-miR-133a	CLIP-seq
MIRT2563264	hsa-miR-133b	CLIP-seq
MIRT1119493	hsa-miR-185	CLIP-seq
MIRT2563265	hsa-miR-219-1-3p	CLIP-seq
MIRT1119495	hsa-miR-22	CLIP-seq
MIRT2563266	hsa-miR-2467-5p	CLIP-seq
MIRT2563267	hsa-miR-2861	CLIP-seq
MIRT2563268	hsa-miR-29a	CLIP-seq
MIRT2563269	hsa-miR-29b	CLIP-seq
MIRT2563270	hsa-miR-29c	CLIP-seq
MIRT1119496	hsa-miR-3116	CLIP-seq
MIRT2563271	hsa-miR-3119	CLIP-seq
MIRT2563272	hsa-miR-3120-3p	CLIP-seq
MIRT2563273	hsa-miR-3126-5p	CLIP-seq
MIRT2563274	hsa-miR-3148	CLIP-seq
MIRT2563275	hsa-miR-3173-3p	CLIP-seq
MIRT2563276	hsa-miR-3187-5p	CLIP-seq
MIRT2563277	hsa-miR-3188	CLIP-seq
MIRT1119497	hsa-miR-3192	CLIP-seq
MIRT2563278	hsa-miR-326	CLIP-seq
MIRT2563279	hsa-miR-330-5p	CLIP-seq
MIRT2563280	hsa-miR-3659	CLIP-seq
MIRT2563281	hsa-miR-3975	CLIP-seq
MIRT2563282	hsa-miR-4265	CLIP-seq
MIRT2563283	hsa-miR-4281	CLIP-seq
MIRT2563284	hsa-miR-4287	CLIP-seq
MIRT2563285	hsa-miR-4296	CLIP-seq
MIRT1119498	hsa-miR-4306	CLIP-seq
MIRT2563286	hsa-miR-4316	CLIP-seq
MIRT2563287	hsa-miR-4318	CLIP-seq
MIRT2563288	hsa-miR-4322	CLIP-seq
MIRT2563289	hsa-miR-4417	CLIP-seq
MIRT2563290	hsa-miR-4419a	CLIP-seq
MIRT2563291	hsa-miR-4426	CLIP-seq
MIRT1119482	hsa-miR-4428	CLIP-seq
MIRT2563292	hsa-miR-4455	CLIP-seq
MIRT2563293	hsa-miR-4469	CLIP-seq
MIRT2563294	hsa-miR-4486	CLIP-seq
MIRT2563295	hsa-miR-4494	CLIP-seq
MIRT2563296	hsa-miR-4510	CLIP-seq
MIRT2563297	hsa-miR-4521	CLIP-seq
MIRT2563298	hsa-miR-4522	CLIP-seq
MIRT2563299	hsa-miR-4640-5p	CLIP-seq
MIRT1119500	hsa-miR-4644	CLIP-seq
MIRT2563300	hsa-miR-4645-5p	CLIP-seq
MIRT2563301	hsa-miR-4647	CLIP-seq
MIRT1119501	hsa-miR-4660	CLIP-seq
MIRT2563302	hsa-miR-4662b	CLIP-seq
MIRT2563303	hsa-miR-4668-5p	CLIP-seq
MIRT2563304	hsa-miR-4673	CLIP-seq
MIRT2563305	hsa-miR-4685-3p	CLIP-seq
MIRT2563306	hsa-miR-4701-3p	CLIP-seq
MIRT2563307	hsa-miR-4710	CLIP-seq
MIRT2563308	hsa-miR-4726-5p	CLIP-seq
MIRT2563309	hsa-miR-4733-5p	CLIP-seq
MIRT2563310	hsa-miR-4757-5p	CLIP-seq
MIRT1119503	hsa-miR-4763-5p	CLIP-seq
MIRT2563311	hsa-miR-485-5p	CLIP-seq
MIRT1119504	hsa-miR-5047	CLIP-seq
MIRT2563312	hsa-miR-526b	CLIP-seq
MIRT2563313	hsa-miR-545	CLIP-seq
MIRT2563314	hsa-miR-548p	CLIP-seq
MIRT2563315	hsa-miR-571	CLIP-seq
MIRT2563316	hsa-miR-609	CLIP-seq
MIRT2563317	hsa-miR-612	CLIP-seq
MIRT2563318	hsa-miR-624	CLIP-seq
MIRT1119505	hsa-miR-661	CLIP-seq
MIRT2563319	hsa-miR-765	CLIP-seq
MIRT1119487	hsa-miR-1184	CLIP-seq
MIRT2563256	hsa-miR-122	CLIP-seq
MIRT2563257	hsa-miR-1225-3p	CLIP-seq
MIRT2563258	hsa-miR-1228	CLIP-seq
MIRT2563259	hsa-miR-1233	CLIP-seq
MIRT1119489	hsa-miR-1254	CLIP-seq
MIRT2563260	hsa-miR-1262	CLIP-seq
MIRT2563261	hsa-miR-1272	CLIP-seq
MIRT2563262	hsa-miR-1285	CLIP-seq
MIRT2684187	hsa-miR-129-3p	CLIP-seq
MIRT1119491	hsa-miR-1301	CLIP-seq
MIRT2563263	hsa-miR-133a	CLIP-seq
MIRT2563264	hsa-miR-133b	CLIP-seq
MIRT1119493	hsa-miR-185	CLIP-seq
MIRT2684188	hsa-miR-193a-5p	CLIP-seq
MIRT1119474	hsa-miR-19a	CLIP-seq
MIRT1119475	hsa-miR-19b	CLIP-seq
MIRT2684189	hsa-miR-2117	CLIP-seq
MIRT2563265	hsa-miR-219-1-3p	CLIP-seq
MIRT1119495	hsa-miR-22	CLIP-seq
MIRT2563266	hsa-miR-2467-5p	CLIP-seq
MIRT2563267	hsa-miR-2861	CLIP-seq
MIRT2563268	hsa-miR-29a	CLIP-seq
MIRT2563269	hsa-miR-29b	CLIP-seq
MIRT2563270	hsa-miR-29c	CLIP-seq
MIRT1119496	hsa-miR-3116	CLIP-seq
MIRT2563271	hsa-miR-3119	CLIP-seq
MIRT2563272	hsa-miR-3120-3p	CLIP-seq
MIRT2563273	hsa-miR-3126-5p	CLIP-seq
MIRT2684190	hsa-miR-3169	CLIP-seq
MIRT2563275	hsa-miR-3173-3p	CLIP-seq
MIRT2563276	hsa-miR-3187-5p	CLIP-seq
MIRT2563277	hsa-miR-3188	CLIP-seq
MIRT1119497	hsa-miR-3192	CLIP-seq
MIRT2684191	hsa-miR-320e	CLIP-seq
MIRT2563278	hsa-miR-326	CLIP-seq
MIRT2684192	hsa-miR-329	CLIP-seq
MIRT2563279	hsa-miR-330-5p	CLIP-seq
MIRT2684193	hsa-miR-346	CLIP-seq
MIRT2684194	hsa-miR-3607-3p	CLIP-seq
MIRT2684195	hsa-miR-362-3p	CLIP-seq
MIRT2563280	hsa-miR-3659	CLIP-seq
MIRT2684196	hsa-miR-3671	CLIP-seq
MIRT2684197	hsa-miR-3686	CLIP-seq
MIRT2684198	hsa-miR-3907	CLIP-seq
MIRT2684199	hsa-miR-3918	CLIP-seq
MIRT2563281	hsa-miR-3975	CLIP-seq
MIRT2563282	hsa-miR-4265	CLIP-seq
MIRT2684200	hsa-miR-4273	CLIP-seq
MIRT2684201	hsa-miR-4279	CLIP-seq
MIRT2563283	hsa-miR-4281	CLIP-seq
MIRT2563284	hsa-miR-4287	CLIP-seq
MIRT2563285	hsa-miR-4296	CLIP-seq
MIRT1119498	hsa-miR-4306	CLIP-seq
MIRT2563286	hsa-miR-4316	CLIP-seq
MIRT2563287	hsa-miR-4318	CLIP-seq
MIRT2684202	hsa-miR-4320	CLIP-seq
MIRT2563288	hsa-miR-4322	CLIP-seq
MIRT2563289	hsa-miR-4417	CLIP-seq
MIRT2563290	hsa-miR-4419a	CLIP-seq
MIRT2563291	hsa-miR-4426	CLIP-seq
MIRT1119482	hsa-miR-4428	CLIP-seq
MIRT2563292	hsa-miR-4455	CLIP-seq
MIRT2684203	hsa-miR-4457	CLIP-seq
MIRT2563293	hsa-miR-4469	CLIP-seq
MIRT2684204	hsa-miR-4480	CLIP-seq
MIRT2563294	hsa-miR-4486	CLIP-seq
MIRT2563295	hsa-miR-4494	CLIP-seq
MIRT2563296	hsa-miR-4510	CLIP-seq
MIRT2684205	hsa-miR-4512	CLIP-seq
MIRT2684206	hsa-miR-4515	CLIP-seq
MIRT2563297	hsa-miR-4521	CLIP-seq
MIRT2563298	hsa-miR-4522	CLIP-seq
MIRT2684207	hsa-miR-4527	CLIP-seq
MIRT2563299	hsa-miR-4640-5p	CLIP-seq
MIRT1119500	hsa-miR-4644	CLIP-seq
MIRT2563300	hsa-miR-4645-5p	CLIP-seq
MIRT2563301	hsa-miR-4647	CLIP-seq
MIRT1119501	hsa-miR-4660	CLIP-seq
MIRT2563302	hsa-miR-4662b	CLIP-seq
MIRT2563304	hsa-miR-4673	CLIP-seq
MIRT2563305	hsa-miR-4685-3p	CLIP-seq
MIRT2684208	hsa-miR-4685-5p	CLIP-seq
MIRT2684209	hsa-miR-4687-5p	CLIP-seq
MIRT2684210	hsa-miR-4694-5p	CLIP-seq
MIRT2563306	hsa-miR-4701-3p	CLIP-seq
MIRT2563307	hsa-miR-4710	CLIP-seq
MIRT2563308	hsa-miR-4726-5p	CLIP-seq
MIRT2684211	hsa-miR-4727-5p	CLIP-seq
MIRT2684212	hsa-miR-4731-3p	CLIP-seq
MIRT2684213	hsa-miR-4733-3p	CLIP-seq
MIRT2563309	hsa-miR-4733-5p	CLIP-seq
MIRT2563310	hsa-miR-4757-5p	CLIP-seq
MIRT2684214	hsa-miR-4762-5p	CLIP-seq
MIRT1119503	hsa-miR-4763-5p	CLIP-seq
MIRT2684215	hsa-miR-4769-3p	CLIP-seq
MIRT2684216	hsa-miR-4801	CLIP-seq
MIRT2563311	hsa-miR-485-5p	CLIP-seq
MIRT1119504	hsa-miR-5047	CLIP-seq
MIRT2563312	hsa-miR-526b	CLIP-seq
MIRT2563313	hsa-miR-545	CLIP-seq
MIRT2563314	hsa-miR-548p	CLIP-seq
MIRT2563315	hsa-miR-571	CLIP-seq
MIRT2684217	hsa-miR-607	CLIP-seq
MIRT2563316	hsa-miR-609	CLIP-seq
MIRT2563317	hsa-miR-612	CLIP-seq
MIRT2563318	hsa-miR-624	CLIP-seq
MIRT1119505	hsa-miR-661	CLIP-seq
MIRT2563319	hsa-miR-765	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0005515	Function	Protein binding	IPI	19651619, 26126825, 28514442, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8180135
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	19750484
GO:0009986	Component	Cell surface	IDA	19651619, 19750484
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019838	Function	Growth factor binding	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IBA
GO:0035592	Process	Establishment of protein localization to extracellular region	IDA	19750484
GO:0035592	Process	Establishment of protein localization to extracellular region	IEA
GO:0035592	Process	Establishment of protein localization to extracellular region	IMP	19651619
GO:0038023	Function	Signaling receptor activity	IBA
GO:0046007	Process	Negative regulation of activated T cell proliferation	IEA
GO:0050431	Function	Transforming growth factor beta binding	IBA
GO:0050431	Function	Transforming growth factor beta binding	IDA	22278742
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	19651619
GO:0062009	Process	Secondary palate development	IEA
GO:0062009	Process	Secondary palate development	ISS
GO:0141069	Function	Receptor ligand inhibitor activity	IDA	22278742

MIM	HGNC	e!Ensembl
137207	4161	ENSG00000137507

Q14392

Protein name

Transforming growth factor beta activator LRRC32 (Garpin) (Glycoprotein A repetitions predominant) (GARP) (Leucine-rich repeat-containing protein 32)

Protein function

Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19651619, PubMed:19750484, PubMed:22278742). Associates

PDB

6GFF , 8C7H , 8VSB , 8VSC , 8VSD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01462	LRRNT	21 → 48	Leucine rich repeat N-terminal domain	Family
PF13855	LRR_8	49 → 109	Leucine rich repeat	Repeat
PF13855	LRR_8	149 → 209	Leucine rich repeat	Repeat
PF13855	LRR_8	514 → 573	Leucine rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed in regulatory T-cells (Tregs). {ECO:0000269|PubMed:18628982, ECO:0000269|PubMed:19750484, ECO:0000269|PubMed:21615933}.

Sequence

MRPQILLLLALLTLGLAAQHQDKVPCKMVDKKVSCQVLGLLQVPSVLPPDTETLDLSGNQ
LRSILASPLGFYTALRHLDLSTNEISFLQPGAFQALTHLEHLSLAHNRLAMATALSAGGL
GPLPRVTSLDLSGNSLYSGLLERLLGEAPSLHTLSLAENSLTRLTRHTFRDMPALEQLDL
HSNVLMDIEDGAFEGLPRLTHLNLSRNSLTCISDFSLQQLRVLDLSCNSIEAFQTASQPQ
AEFQLTWLDLRENKLLHFPDLAALPRLIYLNLSNNLIRLPTGPPQDSKGIHAPSEGWSAL
PLSAPSGNASGRPLSQLLNLDLSYNEIELIPDSFLEHLTSLCFLNLSRNCLRTFEARRLG
SLPCLMLLDLSHNALETLELGARALGSLRTLLLQGNALRDLPPYTFANLASLQRLNLQGN
RVSPCGGPDEPGPSGCVAFSGITSLRSLSLVDNEIELLRAGAFLHTPLTELDLSSNPGLE
VATGALGGLEASLEVLALQGNGLMVLQVDLPCFICLKRLNLAENRLSHLPAWTQAVSLEV
LDLRNNSFSLLPGSAMGGLETSLRRLYLQGNPLSCCGNGWLAAQLHQGRVDVDATQDLIC
RFSSQEEVSLSHVRPEDCEKGGLKNINLIIILTFILVSAILLTTLAACCCVRRQKFNQQY
KA

Sequence length

662

Interactions

View interactions

	KEGG
	TGF-beta signaling pathway

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cleft palate	Likely pathogenic; Pathogenic	rs369867819	RCV000735428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft palate, proliferative retinopathy, and developmental delay	Likely pathogenic; Pathogenic	rs2120049760, rs1251757869, rs369867819	RCV001801335 RCV002221979 RCV001263102	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs369867819	RCV000735428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinopathy	Likely pathogenic; Pathogenic	rs369867819	RCV000735428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LRRC32-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	30775441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	36275717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21907864, 24388013		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	24388013, 30373671	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	29618596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30775441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28001437, 29618665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33974229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29879453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29879453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28261204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28207945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28207945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	31812328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	30976112	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colitis	Colitis	BEFREE	30674536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28763790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17143621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16079167, 18226556, 18334578, 20407468, 20707788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27448748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22036096, 27448748, 27884290, 31158401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30976112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22036096, 27448748, 27884290, 31158401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	30674536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	28224995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	25817017, 34583923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31357555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31357555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30976112		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hibernoma	Hibernoma	BEFREE	12800150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23373523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	39842660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	39842660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29879453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28261204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28001437, 28763790, 29458436, 29618665, 29879453, 30674536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28763790		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27248166, 28763790, 30443770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27248166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30219744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17143621, 24042169, 27248166, 28763790, 30093071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23382860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30443770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	31033124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35780120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic Seasonal	Seasonal allergic rhinitis	Pubtator	24388013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	33253093	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	28619958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28619958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34421887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30443770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	30976112		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	BEFREE	9386826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LRRC32 (leucine rich repeat containing 32)