RUSC2 (RUN and SH3 domain containing 2)

Gene

• Entrez ID: 9853
• Gene name: RUN and SH3 domain containing 2
• Gene symbol: RUSC2
• Synonyms (NCBI Gene): Iporin, MRT61
• Disease Acronyms (UniProt): MRT61
• 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]

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15796781
GO:0005829	Component	Cytosol	IEA
GO:0008150	Process	Biological_process	ND
GO:0031267	Function	Small GTPase binding	IPI	15796781
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IDA	15796781
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 611053
• HGNC: 23625
• e!Ensembl: ENSG00000198853

Protein

• UniProt ID: 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Schizophrenia	Schizophrenia			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Associate	40243558
Epilepsy	Associate	27612186
Intellectual Disability	Associate	27612186
Microcephaly	Associate	27612186
Muscle Hypotonia	Associate	27612186