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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9853
Gene name	RUN and SH3 domain containing 2
Gene symbol	RUSC2
Synonyms (NCBI Gene)	IporinMRT61
Chromosome	9
Chromosome location	9p13.3
Summary	This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1402086660	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1554645052	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043200	hsa-miR-324-5p	CLASH	23622248
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT617715	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT617714	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT617713	hsa-miR-5193	HITS-CLIP	23824327
MIRT617712	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT617711	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT617710	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT617709	hsa-miR-4469	HITS-CLIP	23824327
MIRT617708	hsa-miR-4502	HITS-CLIP	23824327
MIRT617707	hsa-miR-378g	HITS-CLIP	23824327
MIRT617706	hsa-miR-3182	HITS-CLIP	23824327
MIRT617705	hsa-miR-661	HITS-CLIP	23824327
MIRT617704	hsa-miR-4268	HITS-CLIP	23824327
MIRT617703	hsa-miR-4437	HITS-CLIP	23824327
MIRT617702	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT617700	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617701	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT617699	hsa-miR-4674	HITS-CLIP	23824327
MIRT617698	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT1323163	hsa-miR-1202	CLIP-seq
MIRT1323164	hsa-miR-1204	CLIP-seq
MIRT1323165	hsa-miR-3194-5p	CLIP-seq
MIRT1323166	hsa-miR-3972	CLIP-seq
MIRT1323167	hsa-miR-663b	CLIP-seq
MIRT2095864	hsa-miR-1226	CLIP-seq
MIRT2095865	hsa-miR-338-3p	CLIP-seq
MIRT2095866	hsa-miR-3918	CLIP-seq
MIRT2095867	hsa-miR-4649-3p	CLIP-seq
MIRT2095868	hsa-miR-4717-5p	CLIP-seq
MIRT2095869	hsa-miR-634	CLIP-seq
MIRT2095864	hsa-miR-1226	CLIP-seq
MIRT2095865	hsa-miR-338-3p	CLIP-seq
MIRT2095866	hsa-miR-3918	CLIP-seq
MIRT2095869	hsa-miR-634	CLIP-seq
MIRT2095864	hsa-miR-1226	CLIP-seq
MIRT2095865	hsa-miR-338-3p	CLIP-seq
MIRT2095866	hsa-miR-3918	CLIP-seq
MIRT2095869	hsa-miR-634	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15796781, 30905672
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	30905672
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IPI	15796781
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IDA	15796781
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
611053	23625	ENSG00000198853

Q8N2Y8

Protein name

AP-4 complex accessory subunit RUSC2 (Interacting protein of Rab1) (Iporin) (RUN and SH3 domain-containing protein 2)

Protein function

Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.

PDB

6IF2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02759	RUN	1039 → 1174	RUN domain	Family
PF07653	SH3_2	1451 → 1503	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in brain and testis. {ECO:0000269|PubMed:15796781}.

Sequence

MDSPPKLTGETLIVHHIPLVHCQVPDRQCCGGAGGGGGSTRPNPFCPPELGITQPDQDLG
QADSLLFSSLHSTPGGTARSIDSTKSRSRDGRGPGAPKRHNPFLLQEGVGEPGLGDLYDD
SIGDSATQQSFHLHGTGQPNFHLSSFQLPPSGPRVGRPWGTTRSRAGVVEGQEQEPVMTL
DTQQCGTSHCCRPELEAETMELDECGGPGGSGSGGGASDTSGFSFDQEWKLSSDESPRNP
GCSGSGDQHCRCSSTSSQSEAADQSMGYVSDSSCNSSDGVLVTFSTLYNKMHGTPRANLN
SAPQSCSDSSFCSHSDPGAFYLDLQPSPFESKMSYESHHPESGGREGGYGCPHASSPELD
ANCNSYRPHCEPCPAVADLTACFQSQARLVVATQNYYKLVTCDLSSQSSPSPAGSSITSC
SEEHTKISPPPGPGPDPGPSQPSEYYLFQKPEVQPEEQEAVSSSTQAAAAVGPTVLEGQV
YTNTSPPNLSTGRQRSRSYDRSLQRSPPVRLGSLERMLSCPVRLSEGPAAMAGPGSPPRR
VTSFAELAKGRKKTGGSGSPPLRVSVGDSSQEFSPIQEAQQDRGAPLDEGTCCSHSLPPM
PLGPGMDLLGPDPSPPWSTQVCQGPHSSEMPPAGLRATGQGPLAQLMDPGPALPGSPANS
HTQRDARARADGGGTESRPVLRYSKEQRPTTLPIQPFVFQHHFPKQLAKARALHSLSQLY
SLSGCSRTQQPAPLAAPAAQVSVPAPSGEPQASTPRATGRGARKAGSEPETSRPSPLGSY
SPIRSVGPFGPSTDSSASTSCSPPPEQPTATESLPPWSHSCPSAVRPATSQQPQKEDQKI
LTLTEYRLHGTGSLPPLGSWRSGLSRAESLARGGGEGSMATRPSNANHLSPQALKWREYR
RKNPLGPPGLSGSLDRRSQEARLARRNPIFEFPGSLSAASHLNCRLNGQAVKPLPLTCPD
FQDPFSLTEKPPAEFCLSPDGSSEAISIDLLQKKGLVKAVNIAVDLIVAHFGTSRDPGVK
AKLGNSSVSPNVGHLVLKYLCPAVRAVLEDGLKAFVLDVIIGQRKNMPWSVVEASTQLGP
STKVLHGLYNKVSQFPELTSHTMRFNAFILGLLNIRSLEFWFNHLYNHEDIIQTHYQPWG
FLSAAHTVCPGLFEELLLLLQPLALLPFSLDLLFQHRLLQSGQQQRQHKELLRVSQDLLL
SAHSTLQLARARGQEGPGDVDRAAQGERVKGVGASEGGEEEEEEEETEEVAEAAGGSGRA
RWARGGQAGWWYQLMQSSQVYIDGSIEGSRFPRGSSNSSSEKKKGAGGGGPPQAPPPREG
VVEGAEACPASEEALGRERGWPFWMGSPPDSVLAELRRSREREGPAASPAENEEGASEPS
PGGIKWGHLFGSRKAQREARPTNRLPSDWLSLDKSMFQLVAQTVGSRREPEPKESLQEPH
SPALPSSPPCEVQALCHHLATGPGQLSFHKGDILRVLGRAGGDWLRCSRGPDSGLVPLAY
VTLTPTPSPTPGSSQN

Sequence length

1516

Interactions

View interactions

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
Intellectual disability, autosomal recessive 61	Likely pathogenic; Pathogenic	rs1228330473, rs1289887836, rs1402086660, rs1554645052, rs765514069	RCV005419669 RCV004587732 RCV000515622 RCV000515631 RCV001197281	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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.
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUSC2-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STUVE-WIEDEMANN SYNDROME 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27238570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	40243558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27612186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27612186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27612186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27238570		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27612186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24664538		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	BEFREE	27612186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RUSC2 (RUN and SH3 domain containing 2)