SVIL (supervillin)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6840
• Gene name: Supervillin
• Gene symbol: SVIL
• Synonyms (NCBI Gene): MFM10
• Chromosome: 10
• Chromosome location: 10p11.23
• Summary: This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs767673427	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA Show/Hide all (166)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016778	hsa-miR-335-5p	Microarray	18185580
MIRT051583	hsa-let-7e-5p	CLASH	23622248
MIRT040980	hsa-miR-18a-3p	CLASH	23622248
MIRT039692	hsa-miR-615-3p	CLASH	23622248
MIRT1404644	hsa-miR-204	CLIP-seq
MIRT1404645	hsa-miR-211	CLIP-seq
MIRT1404646	hsa-miR-3613-3p	CLIP-seq
MIRT1404647	hsa-miR-3977	CLIP-seq
MIRT1404648	hsa-miR-3978	CLIP-seq
MIRT1404649	hsa-miR-4755-5p	CLIP-seq
MIRT1404650	hsa-miR-4780	CLIP-seq
MIRT1404651	hsa-miR-520d-5p	CLIP-seq
MIRT1404652	hsa-miR-524-5p	CLIP-seq
MIRT1404653	hsa-miR-623	CLIP-seq
MIRT1404654	hsa-miR-124	CLIP-seq
MIRT1404655	hsa-miR-1284	CLIP-seq
MIRT1404656	hsa-miR-15a	CLIP-seq
MIRT1404657	hsa-miR-15b	CLIP-seq
MIRT1404658	hsa-miR-16	CLIP-seq
MIRT1404659	hsa-miR-195	CLIP-seq
MIRT1404660	hsa-miR-2110	CLIP-seq
MIRT1404661	hsa-miR-2682	CLIP-seq
MIRT1404662	hsa-miR-302a	CLIP-seq
MIRT1404663	hsa-miR-302b	CLIP-seq
MIRT1404664	hsa-miR-302c	CLIP-seq
MIRT1404665	hsa-miR-302d	CLIP-seq
MIRT1404666	hsa-miR-302e	CLIP-seq
MIRT1404667	hsa-miR-3140-5p	CLIP-seq
MIRT1404668	hsa-miR-3150a-3p	CLIP-seq
MIRT1404669	hsa-miR-3150a-5p	CLIP-seq
MIRT1404670	hsa-miR-3150b-5p	CLIP-seq
MIRT1404671	hsa-miR-3165	CLIP-seq
MIRT1404672	hsa-miR-3175	CLIP-seq
MIRT1404673	hsa-miR-34a	CLIP-seq
MIRT1404674	hsa-miR-34c-5p	CLIP-seq
MIRT1404675	hsa-miR-3714	CLIP-seq
MIRT1404676	hsa-miR-372	CLIP-seq
MIRT1404677	hsa-miR-373	CLIP-seq
MIRT1404678	hsa-miR-3927	CLIP-seq
MIRT1404679	hsa-miR-424	CLIP-seq
MIRT1404680	hsa-miR-4260	CLIP-seq
MIRT1404681	hsa-miR-4477a	CLIP-seq
MIRT1404682	hsa-miR-449a	CLIP-seq
MIRT1404683	hsa-miR-449b	CLIP-seq
MIRT1404684	hsa-miR-449c	CLIP-seq
MIRT1404685	hsa-miR-4524	CLIP-seq
MIRT1404686	hsa-miR-4650-3p	CLIP-seq
MIRT1404687	hsa-miR-4720-3p	CLIP-seq
MIRT1404688	hsa-miR-4762-3p	CLIP-seq
MIRT1404689	hsa-miR-4790-3p	CLIP-seq
MIRT1404690	hsa-miR-497	CLIP-seq
MIRT1404691	hsa-miR-503	CLIP-seq
MIRT1404692	hsa-miR-506	CLIP-seq
MIRT1404693	hsa-miR-519a	CLIP-seq
MIRT1404694	hsa-miR-519b-3p	CLIP-seq
MIRT1404695	hsa-miR-519c-3p	CLIP-seq
MIRT1404696	hsa-miR-520a-3p	CLIP-seq
MIRT1404697	hsa-miR-520b	CLIP-seq
MIRT1404698	hsa-miR-520c-3p	CLIP-seq
MIRT1404699	hsa-miR-520d-3p	CLIP-seq
MIRT1404700	hsa-miR-520e	CLIP-seq
MIRT1404701	hsa-miR-548ac	CLIP-seq
MIRT1404702	hsa-miR-548ae	CLIP-seq
MIRT1404703	hsa-miR-548ag	CLIP-seq
MIRT1404704	hsa-miR-548ai	CLIP-seq
MIRT1404705	hsa-miR-548aj	CLIP-seq
MIRT1404706	hsa-miR-548am	CLIP-seq
MIRT1404707	hsa-miR-548d-3p	CLIP-seq
MIRT1404708	hsa-miR-548x	CLIP-seq
MIRT1404709	hsa-miR-548z	CLIP-seq
MIRT1404710	hsa-miR-646	CLIP-seq
MIRT1404711	hsa-miR-939	CLIP-seq
MIRT1404662	hsa-miR-302a	CLIP-seq
MIRT1404663	hsa-miR-302b	CLIP-seq
MIRT1404664	hsa-miR-302c	CLIP-seq
MIRT1404665	hsa-miR-302d	CLIP-seq
MIRT1404666	hsa-miR-302e	CLIP-seq
MIRT1404676	hsa-miR-372	CLIP-seq
MIRT1404677	hsa-miR-373	CLIP-seq
MIRT2121412	hsa-miR-3925-3p	CLIP-seq
MIRT1404648	hsa-miR-3978	CLIP-seq
MIRT1404687	hsa-miR-4720-3p	CLIP-seq
MIRT2121413	hsa-miR-515-5p	CLIP-seq
MIRT1404693	hsa-miR-519a	CLIP-seq
MIRT1404694	hsa-miR-519b-3p	CLIP-seq
MIRT1404695	hsa-miR-519c-3p	CLIP-seq
MIRT1404696	hsa-miR-520a-3p	CLIP-seq
MIRT2121414	hsa-miR-520a-5p	CLIP-seq
MIRT1404697	hsa-miR-520b	CLIP-seq
MIRT1404698	hsa-miR-520c-3p	CLIP-seq
MIRT1404699	hsa-miR-520d-3p	CLIP-seq
MIRT1404700	hsa-miR-520e	CLIP-seq
MIRT2121415	hsa-miR-525-5p	CLIP-seq
MIRT2121416	hsa-miR-766	CLIP-seq
MIRT2121412	hsa-miR-3925-3p	CLIP-seq
MIRT2121413	hsa-miR-515-5p	CLIP-seq
MIRT2121414	hsa-miR-520a-5p	CLIP-seq
MIRT2121415	hsa-miR-525-5p	CLIP-seq
MIRT2395445	hsa-miR-548g	CLIP-seq
MIRT2121416	hsa-miR-766	CLIP-seq
MIRT2637135	hsa-miR-1257	CLIP-seq
MIRT2637136	hsa-miR-1276	CLIP-seq
MIRT2637137	hsa-miR-1289	CLIP-seq
MIRT2637138	hsa-miR-141	CLIP-seq
MIRT2637139	hsa-miR-142-5p	CLIP-seq
MIRT2637140	hsa-miR-200a	CLIP-seq
MIRT2637141	hsa-miR-3074-3p	CLIP-seq
MIRT2637142	hsa-miR-3122	CLIP-seq
MIRT2637143	hsa-miR-3177-5p	CLIP-seq
MIRT2637144	hsa-miR-337-3p	CLIP-seq
MIRT2637145	hsa-miR-340	CLIP-seq
MIRT2637146	hsa-miR-3609	CLIP-seq
MIRT2637147	hsa-miR-3662	CLIP-seq
MIRT2637148	hsa-miR-3689a-3p	CLIP-seq
MIRT2637149	hsa-miR-3689c	CLIP-seq
MIRT2637150	hsa-miR-3913-5p	CLIP-seq
MIRT2637151	hsa-miR-3925-5p	CLIP-seq
MIRT2637152	hsa-miR-4292	CLIP-seq
MIRT2637153	hsa-miR-4308	CLIP-seq
MIRT2637154	hsa-miR-4311	CLIP-seq
MIRT2637155	hsa-miR-4446-5p	CLIP-seq
MIRT2637156	hsa-miR-452	CLIP-seq
MIRT2637157	hsa-miR-4635	CLIP-seq
MIRT2637158	hsa-miR-4676-3p	CLIP-seq
MIRT2637159	hsa-miR-4698	CLIP-seq
MIRT2637160	hsa-miR-4719	CLIP-seq
MIRT1404649	hsa-miR-4755-5p	CLIP-seq
MIRT2637161	hsa-miR-4762-5p	CLIP-seq
MIRT2637162	hsa-miR-488	CLIP-seq
MIRT2637163	hsa-miR-548ah	CLIP-seq
MIRT2637164	hsa-miR-548q	CLIP-seq
MIRT2637165	hsa-miR-583	CLIP-seq
MIRT2637166	hsa-miR-670	CLIP-seq
MIRT2692460	hsa-miR-1273f	CLIP-seq
MIRT2637136	hsa-miR-1276	CLIP-seq
MIRT2637138	hsa-miR-141	CLIP-seq
MIRT2637139	hsa-miR-142-5p	CLIP-seq
MIRT2692461	hsa-miR-143	CLIP-seq
MIRT2637140	hsa-miR-200a	CLIP-seq
MIRT2692462	hsa-miR-2467-3p	CLIP-seq
MIRT2637143	hsa-miR-3177-5p	CLIP-seq
MIRT2637145	hsa-miR-340	CLIP-seq
MIRT1404646	hsa-miR-3613-3p	CLIP-seq
MIRT2692463	hsa-miR-3674	CLIP-seq
MIRT2692464	hsa-miR-3678-3p	CLIP-seq
MIRT2637151	hsa-miR-3925-5p	CLIP-seq
MIRT2692465	hsa-miR-3935	CLIP-seq
MIRT2692466	hsa-miR-409-3p	CLIP-seq
MIRT2692467	hsa-miR-4282	CLIP-seq
MIRT2637152	hsa-miR-4292	CLIP-seq
MIRT2692468	hsa-miR-4307	CLIP-seq
MIRT2637153	hsa-miR-4308	CLIP-seq
MIRT2637154	hsa-miR-4311	CLIP-seq
MIRT2637155	hsa-miR-4446-5p	CLIP-seq
MIRT2692469	hsa-miR-4461	CLIP-seq
MIRT2637156	hsa-miR-452	CLIP-seq
MIRT2637158	hsa-miR-4676-3p	CLIP-seq
MIRT2692470	hsa-miR-4693-3p	CLIP-seq
MIRT2637159	hsa-miR-4698	CLIP-seq
MIRT2692471	hsa-miR-4708-5p	CLIP-seq
MIRT1404649	hsa-miR-4755-5p	CLIP-seq
MIRT2692472	hsa-miR-4770	CLIP-seq
MIRT2637164	hsa-miR-548q	CLIP-seq
MIRT2692473	hsa-miR-577	CLIP-seq
MIRT2637165	hsa-miR-583	CLIP-seq
MIRT2637166	hsa-miR-670	CLIP-seq

Gene ontology (GO) Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002102	Component	Podosome	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	18639526
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005634	Component	Nucleus	IDA	12711699
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12711699
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	12711699
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007519	Process	Skeletal muscle tissue development	IMP	12711699
GO:0008154	Process	Actin polymerization or depolymerization	IBA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0015629	Component	Actin cytoskeleton	NAS	9867483
GO:0016020	Component	Membrane	IEA
GO:0030496	Component	Midbody	IEA
GO:0030496	Component	Midbody	ISS
GO:0032154	Component	Cleavage furrow	IEA
GO:0032154	Component	Cleavage furrow	ISS
GO:0032467	Process	Positive regulation of cytokinesis	ISS
GO:0036449	Component	Microtubule minus-end	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043034	Component	Costamere	IDA	12711699
GO:0043034	Component	Costamere	IEA
GO:0051014	Process	Actin filament severing	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	12711699
GO:0051015	Function	Actin filament binding	IEA
GO:0051016	Process	Barbed-end actin filament capping	IBA
GO:0061061	Process	Muscle structure development	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 604126
• HGNC: 11480
• e!Ensembl: ENSG00000197321

Protein

• UniProt ID: O95425
• Protein name: Supervillin (Archvillin) (p205/p250)
• Protein function: [Isoform 1]: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699)
• PDB: 2K6M , 2K6N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00626	Gelsolin	1453 → 1521	Gelsolin repeat	Domain
  PF02209	VHP	2179 → 2214	Villin headpiece domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues. Most abundant in muscle, bone marrow, thyroid gland and salivary gland. Isoform 1 (archvillin) is muscle specific. {ECO:0000269|PubMed:9867483}.
• Sequence:

  MKRKERIARRLEGIENDTQPILLQSCTGLVTHRLLEEDTPRYMRASDPASPHIGRSNEEE
  ETSDSSLEKQTRSKYCTETSGVHGDSPYGSGTMDTHSLESKAERIARYKAERRRQLAEKY
  GLTLDPEADSEYLSRYTKSRKEPDAVEKRGGKSDKQEESSRDASSLYPGTETMGLRTCAG
  ESKDYALHVGDGSSDPEVLLNIENQRRGQELSATRQAHDLSPAAESSSTFSFSGRDSSFT
  EVPRSPKHAHSSSLQQAASRSPSFGDPQLSPEARPSTGKPKHEWFLQKDSEGDTPSLINW
  PSRVKVREKLVKEESARNSPELASESVTQRRHQPAPVHYVSFQSEHSAFDRVPSKAAGST
  RQPIRGYVQPADTGHTAKLVTPETPENASECSWVASATQNVPKPPSLTVLEGDGRDSPVL
  HVCESKAEEEEGEGEGEEKEEDVCFTEALEQSKKTLLALEGDGLVRSPEDPSRNEDFGKP
  AVSTVTLEHQKELENVAQPPQAPHQPTERTGRSEMVLYIQSEPVSQDAKPTGHNREASKK
  RKVRTRSLSDFTGPPQLQALKYKDPASRRELELPSSKTEGPYGEISMLDTKVSVAQLRSA
  FLASANACRRPELKSRVERSAEGPGLPTGVERERGSRKPRRYFSPGESRKTSERFRTQPI
  TSAERKESDRCTSHSETPTVDDEEKVDERAKLSVAAKRLLFREMEKSFDEQNVPKRRSRN
  TAVEQRLRRLQDRSLTQPITTEEVVIAATEPIPASCSGGTHPVMARLPSPTVARSAVQPA
  RLQASAHQKALAKDQTNEGKELAEQGEPDSSTLSLAEKLALFNKLSQPVSKAISTRNRID
  TRQRRMNARYQTQPVTLGEVEQVQSGKLIPFSPAVNTSVSTVASTVAPMYAGDLRTKPPL
  DHNASATDYKFSSSIENSDSPVRSILKSQAWQPLVEGSENKGMLREYGETESKRALTGRD
  SGMEKYGSFEEAEASYPILNRAREGDSHKESKYAVPRRGSLERANPPITHLGDEPKEFSM
  AKMNAQGNLDLRDRLPFEEKVEVENVMKRKFSLRAAEFGEPTSEQTGTAAGKTIAQTTAP
  VSWKPQDSSEQPQEKLCKNPCAMFAAGEIKTPTGEGLLDSPSKTMSIKERLALLKKSGEE
  DWRNRLSRRQEGGKAPASSLHTQEAGRSLIKKRVTESRESQMTIEERKQLITVREEAWKT
  RGRGAANDSTQFTVAGRMVKKGLASPTAITPVASPICGKTRGTTPVSKPLEDIEARPDMQ
  LESDLKLDRLETFLRRLNNKVGGMHETVLTVTGKSVKEVMKPDDDETFAKFYRSVDYNMP
  RSPVEMDEDFDVIFDPYAPKLTSSVAEHKRAVRPKRRVQASKNPLKMLAAREDLLQEYTE
  QRLNVAFMESKRMKVEKMSSNSNFSEVTLAGLASKENFSNVSLRSVNLTEQNSNNSAVPY
  KRLMLLQIKGRRHVQTRLVEPRASALNSGDCFLLLSPHCCFLWVGEFANVIEKAKASELA
  TLIQTKRELGCRATYIQTIEEGINTHTHAAKDFWKLLGGQTSYQSAGDPKEDELYEAAII
  ETNCIYRLMDDKLVPDDDYWGKIPKCSLLQPKEVLVFDFGSEVYVWHGKEVTLAQRKIAF
  QLAKHLWNGTFDYENCDINPLDPGECNPLIPRKGQGRPDWAIFGRLTEHNETILFKEKFL
  DWTELKRSNEKNPGELAQHKEDPRTDVKAYDVTRMVSMPQTTAGTILDGVNVGRGYGLVE
  GHDRRQFEITSVSVDVWHILEFDYSRLPKQSIGQFHEGDAYVVKWKFMVSTAVGSRQKGE
  HSVRAAGKEKCVYFFWQGRHSTVSEKGTSALMTVELDEERGAQVQVLQGKEPPCFLQCFQ
  GGMVVHSGRREEEEENVQSEWRLYCVRGEVPVEGNLLEVACHCSSLRSRTSMVVLNVNKA
  LIYLWHGCKAQAHTKEVGRTAANKIKEQCPLEAGLHSSSKVTIHECDEGSEPLGFWDALG
  RRDRKAYDCMLQDPGSFNFAPRLFILSSSSGDFAATEFVYPARAPSVVSSMPFLQEDLYS
  APQPALFLVDNHHEVYLWQGWWPIENKITGSARIRWASDRKSAMETVLQYCKGKNLKKPA
  PKSYLIHAGLEPLTFTNMFPSWEHREDIAEITEMDTEVSNQITLVEDVLAKLCKTIYPLA
  DLLARPLPEGVDPLKLEIYLTDEDFEFALDMTRDEYNALPAWKQVNLKKAKGLF

• Sequence length: 2214

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs767673427	RCV000454313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 10	Pathogenic	rs753121062, rs1948690345	RCV001260966 RCV001260967	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (20)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	26830138	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	28580392	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	37069358	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	20708005	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	37196047	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	17330099	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30219690	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	23793025	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	GWAS catalog	23793025	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	19010793	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	20708005	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	22419666	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SVIL-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	33667223	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	34837083	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29799805		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29954442		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29954442		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30640733		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	32683206	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	GWASCAT_DG	28580392		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29799805, 34588774	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37670039	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

JCAD 3 shared diseasesLiver cirrhosis, Diverticulitis, Orofacial cleft 4 shared evidence sourcesGWAS catalog (Liver cirrhosis), GWAS catalog (Diverticulitis), GWAS catalog (Nonalcoholic fatty liver disease), GWAS catalog (Orofacial cleft) Related via 3 shared diseases including Liver cirrhosis, Diverticulitis — evidence mostly GWAS catalog. LHX8 2 shared diseasesDiverticulitis, Orofacial cleft 2 shared evidence sourcesGWAS catalog (Diverticulitis), GWAS catalog (Orofacial cleft) Related via 2 shared diseases including Diverticulitis, Orofacial cleft — evidence mostly GWAS catalog. ADTRP 2 shared diseasesBone fracture, Orofacial cleft 2 shared evidence sourcesGWAS catalog (Bone fracture), GWAS catalog (Orofacial cleft) Related via 2 shared diseases including Bone fracture, Orofacial cleft — evidence mostly GWAS catalog. TRIB1 2 shared diseasesLiver cirrhosis, Orofacial cleft 3 shared evidence sourcesGWAS catalog (Liver cirrhosis), GWAS catalog (Nonalcoholic fatty liver disease), GWAS catalog (Orofacial cleft) Related via 2 shared diseases including Liver cirrhosis, Orofacial cleft — evidence mostly GWAS catalog. LRRC4C 2 shared diseasesDiverticulitis, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Diverticulitis), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Diverticulitis, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
JCAD	3	["Liver cirrhosis","Diverticulitis","Orofacial cleft"]	0	[]	4	["GWAS catalog (Liver cirrhosis)","GWAS catalog (Diverticulitis)","GWAS catalog (Nonalcoholic fatty liver disease)","GWAS catalog (Orofacial cleft)"]
LHX8	2	["Diverticulitis","Orofacial cleft"]	0	[]	2	["GWAS catalog (Diverticulitis)","GWAS catalog (Orofacial cleft)"]
ADTRP	2	["Bone fracture","Orofacial cleft"]	0	[]	2	["GWAS catalog (Bone fracture)","GWAS catalog (Orofacial cleft)"]
TRIB1	2	["Liver cirrhosis","Orofacial cleft"]	0	[]	3	["GWAS catalog (Liver cirrhosis)","GWAS catalog (Nonalcoholic fatty liver disease)","GWAS catalog (Orofacial cleft)"]
LRRC4C	2	["Diverticulitis","Upper aerodigestive tract neoplasm"]	0	[]	2	["GWAS catalog (Diverticulitis)","GWAS catalog (Upper aerodigestive tract neoplasm)"]

Diseases Linked via Similar Genes

Attention deficit hyperactivity disorder Linked via 3 of 5 related genesJCAD, LHX8, LRRC4C Ischemic heart disease Linked via 3 of 5 related genesJCAD, ADTRP, TRIB1 Coronary artery disease Linked via 3 of 5 related genesJCAD, ADTRP, TRIB1 Myocardial ischemia Linked via 3 of 5 related genesJCAD, ADTRP, TRIB1 Substance abuse Linked via 3 of 5 related genesJCAD, LHX8, LRRC4C

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Attention deficit hyperactivity disorder	3	["JCAD","LHX8","LRRC4C"]
Ischemic heart disease	3	["JCAD","ADTRP","TRIB1"]
Coronary artery disease	3	["JCAD","ADTRP","TRIB1"]
Myocardial ischemia	3	["JCAD","ADTRP","TRIB1"]
Substance abuse	3	["JCAD","LHX8","LRRC4C"]