NUP153 (nucleoporin 153)

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

Gene

• Entrez ID: 9972
• Gene name: Nucleoporin 153
• Gene symbol: NUP153
• Synonyms (NCBI Gene): HNUP153, N153
• Chromosome: 6
• Chromosome location: 6p22.3
• Summary: Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nu

miRNA Show/Hide all (217)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016069	hsa-miR-374b-5p	Sequencing	20371350
MIRT030167	hsa-miR-26b-5p	Microarray	19088304
MIRT052022	hsa-let-7b-5p	CLASH	23622248
MIRT050446	hsa-miR-23a-3p	CLASH	23622248
MIRT048835	hsa-miR-93-5p	CLASH	23622248
MIRT043842	hsa-miR-330-3p	CLASH	23622248
MIRT038549	hsa-miR-106b-3p	CLASH	23622248
MIRT037471	hsa-miR-744-5p	CLASH	23622248
MIRT471784	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	23592263
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT471780	hsa-miR-4696	PAR-CLIP	23592263
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	26701625
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	26701625
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	26701625
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	26701625
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	26701625
MIRT471780	hsa-miR-4696	PAR-CLIP	26701625
MIRT471780	hsa-miR-4696	PAR-CLIP	26701625
MIRT471780	hsa-miR-4696	PAR-CLIP	26701625
MIRT471780	hsa-miR-4696	PAR-CLIP	26701625
MIRT471780	hsa-miR-4696	PAR-CLIP	26701625
MIRT471784	hsa-miR-552-3p	PAR-CLIP	26701625
MIRT471784	hsa-miR-552-3p	PAR-CLIP	26701625
MIRT471784	hsa-miR-552-3p	PAR-CLIP	26701625
MIRT471784	hsa-miR-552-3p	PAR-CLIP	26701625
MIRT471784	hsa-miR-552-3p	PAR-CLIP	26701625
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT471784	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT471783	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT471782	hsa-miR-6888-5p	PAR-CLIP	23592263
MIRT471781	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT471780	hsa-miR-4696	PAR-CLIP	23592263
MIRT1198991	hsa-miR-1207-5p	CLIP-seq
MIRT1198992	hsa-miR-1225-5p	CLIP-seq
MIRT1198993	hsa-miR-1226	CLIP-seq
MIRT1198994	hsa-miR-1262	CLIP-seq
MIRT1198995	hsa-miR-1284	CLIP-seq
MIRT1198996	hsa-miR-1297	CLIP-seq
MIRT1198997	hsa-miR-1305	CLIP-seq
MIRT1198998	hsa-miR-1343	CLIP-seq
MIRT1198999	hsa-miR-136	CLIP-seq
MIRT1199000	hsa-miR-1468	CLIP-seq
MIRT1199001	hsa-miR-1827	CLIP-seq
MIRT1199002	hsa-miR-186	CLIP-seq
MIRT1199003	hsa-miR-2682	CLIP-seq
MIRT1199004	hsa-miR-26a	CLIP-seq
MIRT1199005	hsa-miR-26b	CLIP-seq
MIRT1199006	hsa-miR-27a	CLIP-seq
MIRT1199007	hsa-miR-27b	CLIP-seq
MIRT1199008	hsa-miR-300	CLIP-seq
MIRT1199009	hsa-miR-3133	CLIP-seq
MIRT1199010	hsa-miR-3151	CLIP-seq
MIRT1199011	hsa-miR-3200-5p	CLIP-seq
MIRT1199012	hsa-miR-345	CLIP-seq
MIRT1199013	hsa-miR-361-5p	CLIP-seq
MIRT1199014	hsa-miR-3671	CLIP-seq
MIRT1199015	hsa-miR-3680	CLIP-seq
MIRT1199016	hsa-miR-377	CLIP-seq
MIRT1199017	hsa-miR-381	CLIP-seq
MIRT1199018	hsa-miR-3941	CLIP-seq
MIRT1199019	hsa-miR-3942-3p	CLIP-seq
MIRT1199020	hsa-miR-3973	CLIP-seq
MIRT1199021	hsa-miR-4283	CLIP-seq
MIRT1199022	hsa-miR-4310	CLIP-seq
MIRT1199023	hsa-miR-4316	CLIP-seq
MIRT1199024	hsa-miR-4423-3p	CLIP-seq
MIRT1199025	hsa-miR-4465	CLIP-seq
MIRT1199026	hsa-miR-4489	CLIP-seq
MIRT1199027	hsa-miR-449c	CLIP-seq
MIRT1199028	hsa-miR-4633-5p	CLIP-seq
MIRT1199029	hsa-miR-466	CLIP-seq
MIRT1199030	hsa-miR-4666-3p	CLIP-seq
MIRT1199031	hsa-miR-4672	CLIP-seq
MIRT1199032	hsa-miR-4699-3p	CLIP-seq
MIRT1199033	hsa-miR-4701-3p	CLIP-seq
MIRT1199034	hsa-miR-4704-3p	CLIP-seq
MIRT1199035	hsa-miR-4710	CLIP-seq
MIRT1199036	hsa-miR-4712-5p	CLIP-seq
MIRT1199037	hsa-miR-4731-3p	CLIP-seq
MIRT1199038	hsa-miR-4733-3p	CLIP-seq
MIRT1199039	hsa-miR-4762-5p	CLIP-seq
MIRT1199040	hsa-miR-4763-3p	CLIP-seq
MIRT1199041	hsa-miR-4766-5p	CLIP-seq
MIRT1199042	hsa-miR-4789-3p	CLIP-seq
MIRT1199043	hsa-miR-4801	CLIP-seq
MIRT1199044	hsa-miR-498	CLIP-seq
MIRT1199045	hsa-miR-512-5p	CLIP-seq
MIRT1199046	hsa-miR-513a-3p	CLIP-seq
MIRT1199047	hsa-miR-513a-5p	CLIP-seq
MIRT1199048	hsa-miR-520d-5p	CLIP-seq
MIRT1199049	hsa-miR-524-5p	CLIP-seq
MIRT1199050	hsa-miR-548k	CLIP-seq
MIRT1199051	hsa-miR-583	CLIP-seq
MIRT1199052	hsa-miR-607	CLIP-seq
MIRT1199053	hsa-miR-617	CLIP-seq
MIRT1199054	hsa-miR-634	CLIP-seq
MIRT1199055	hsa-miR-770-5p	CLIP-seq
MIRT1199056	hsa-miR-940	CLIP-seq
MIRT1199057	hsa-miR-95	CLIP-seq
MIRT1198992	hsa-miR-1225-5p	CLIP-seq
MIRT1198993	hsa-miR-1226	CLIP-seq
MIRT1198995	hsa-miR-1284	CLIP-seq
MIRT1198997	hsa-miR-1305	CLIP-seq
MIRT1198998	hsa-miR-1343	CLIP-seq
MIRT1198999	hsa-miR-136	CLIP-seq
MIRT1199000	hsa-miR-1468	CLIP-seq
MIRT2057704	hsa-miR-1973	CLIP-seq
MIRT1199008	hsa-miR-300	CLIP-seq
MIRT2057705	hsa-miR-3155	CLIP-seq
MIRT2057706	hsa-miR-3155b	CLIP-seq
MIRT1199013	hsa-miR-361-5p	CLIP-seq
MIRT2057707	hsa-miR-3619-3p	CLIP-seq
MIRT1199017	hsa-miR-381	CLIP-seq
MIRT2057708	hsa-miR-421	CLIP-seq
MIRT2057709	hsa-miR-4276	CLIP-seq
MIRT2057710	hsa-miR-4639-3p	CLIP-seq
MIRT1199030	hsa-miR-4666-3p	CLIP-seq
MIRT2057711	hsa-miR-4686	CLIP-seq
MIRT1199034	hsa-miR-4704-3p	CLIP-seq
MIRT1199038	hsa-miR-4733-3p	CLIP-seq
MIRT1199039	hsa-miR-4762-5p	CLIP-seq
MIRT2057712	hsa-miR-484	CLIP-seq
MIRT1199048	hsa-miR-520d-5p	CLIP-seq
MIRT1199049	hsa-miR-524-5p	CLIP-seq
MIRT1199050	hsa-miR-548k	CLIP-seq
MIRT2057713	hsa-miR-576-5p	CLIP-seq
MIRT1199051	hsa-miR-583	CLIP-seq
MIRT1199056	hsa-miR-940	CLIP-seq
MIRT1198992	hsa-miR-1225-5p	CLIP-seq
MIRT1198993	hsa-miR-1226	CLIP-seq
MIRT1198995	hsa-miR-1284	CLIP-seq
MIRT2286059	hsa-miR-1287	CLIP-seq
MIRT2286060	hsa-miR-129-5p	CLIP-seq
MIRT1198996	hsa-miR-1297	CLIP-seq
MIRT1198997	hsa-miR-1305	CLIP-seq
MIRT2286061	hsa-miR-133a	CLIP-seq
MIRT2286062	hsa-miR-133b	CLIP-seq
MIRT1198998	hsa-miR-1343	CLIP-seq
MIRT1198999	hsa-miR-136	CLIP-seq
MIRT1199000	hsa-miR-1468	CLIP-seq
MIRT1199002	hsa-miR-186	CLIP-seq
MIRT2057704	hsa-miR-1973	CLIP-seq
MIRT2286063	hsa-miR-200b	CLIP-seq
MIRT2286064	hsa-miR-200c	CLIP-seq
MIRT2286065	hsa-miR-2053	CLIP-seq
MIRT1199003	hsa-miR-2682	CLIP-seq
MIRT1199004	hsa-miR-26a	CLIP-seq
MIRT1199005	hsa-miR-26b	CLIP-seq
MIRT1199006	hsa-miR-27a	CLIP-seq
MIRT1199007	hsa-miR-27b	CLIP-seq
MIRT1199008	hsa-miR-300	CLIP-seq
MIRT1199009	hsa-miR-3133	CLIP-seq
MIRT2286066	hsa-miR-3135b	CLIP-seq
MIRT2057705	hsa-miR-3155	CLIP-seq
MIRT2057706	hsa-miR-3155b	CLIP-seq
MIRT2286067	hsa-miR-3163	CLIP-seq
MIRT2286068	hsa-miR-3185	CLIP-seq
MIRT2286069	hsa-miR-338-5p	CLIP-seq
MIRT1199012	hsa-miR-345	CLIP-seq
MIRT1199013	hsa-miR-361-5p	CLIP-seq
MIRT2286070	hsa-miR-374c	CLIP-seq
MIRT1199017	hsa-miR-381	CLIP-seq
MIRT1199019	hsa-miR-3942-3p	CLIP-seq
MIRT1199020	hsa-miR-3973	CLIP-seq
MIRT2057708	hsa-miR-421	CLIP-seq
MIRT2057709	hsa-miR-4276	CLIP-seq
MIRT2286071	hsa-miR-429	CLIP-seq
MIRT2286072	hsa-miR-4330	CLIP-seq
MIRT1199024	hsa-miR-4423-3p	CLIP-seq
MIRT1199025	hsa-miR-4465	CLIP-seq
MIRT1199027	hsa-miR-449c	CLIP-seq
MIRT2286073	hsa-miR-455-3p	CLIP-seq
MIRT1199028	hsa-miR-4633-5p	CLIP-seq
MIRT2057710	hsa-miR-4639-3p	CLIP-seq
MIRT1199030	hsa-miR-4666-3p	CLIP-seq
MIRT2057711	hsa-miR-4686	CLIP-seq
MIRT1199034	hsa-miR-4704-3p	CLIP-seq
MIRT2286074	hsa-miR-4720-3p	CLIP-seq
MIRT1199038	hsa-miR-4733-3p	CLIP-seq
MIRT1199039	hsa-miR-4762-5p	CLIP-seq
MIRT2286075	hsa-miR-4804-3p	CLIP-seq
MIRT2057712	hsa-miR-484	CLIP-seq
MIRT1199044	hsa-miR-498	CLIP-seq
MIRT1199046	hsa-miR-513a-3p	CLIP-seq
MIRT1199047	hsa-miR-513a-5p	CLIP-seq
MIRT2286076	hsa-miR-516a-3p	CLIP-seq
MIRT1199048	hsa-miR-520d-5p	CLIP-seq
MIRT1199049	hsa-miR-524-5p	CLIP-seq
MIRT2286077	hsa-miR-548c-3p	CLIP-seq
MIRT1199050	hsa-miR-548k	CLIP-seq
MIRT2286078	hsa-miR-548n	CLIP-seq
MIRT2286079	hsa-miR-561	CLIP-seq
MIRT1199051	hsa-miR-583	CLIP-seq
MIRT1199053	hsa-miR-617	CLIP-seq
MIRT2286080	hsa-miR-628-5p	CLIP-seq
MIRT2286081	hsa-miR-655	CLIP-seq
MIRT1199056	hsa-miR-940	CLIP-seq
MIRT1199057	hsa-miR-95	CLIP-seq
MIRT2286065	hsa-miR-2053	CLIP-seq
MIRT2391814	hsa-miR-299-5p	CLIP-seq
MIRT2391815	hsa-miR-3143	CLIP-seq
MIRT2391816	hsa-miR-4729	CLIP-seq
MIRT2391817	hsa-miR-4733-5p	CLIP-seq
MIRT2391818	hsa-miR-569	CLIP-seq
MIRT2391819	hsa-miR-944	CLIP-seq
MIRT2286067	hsa-miR-3163	CLIP-seq

Gene ontology (GO) Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11777942, 11896061, 12802065, 17255949, 18845677, 20133940, 21858095, 23652018, 26456112, 26496610, 35044719, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IDA	12802065, 15229283
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006405	Process	RNA export from nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0008139	Function	Nuclear localization sequence binding	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	26051542
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IDA	22253824
GO:0017056	Function	Structural constituent of nuclear pore	IMP	15229283
GO:0031965	Component	Nuclear membrane	IDA	11839768, 12802065, 15229283, 20407419
GO:0031965	Component	Nuclear membrane	IEA
GO:0034399	Component	Nuclear periphery	IDA	11839768, 15229283
GO:0034399	Component	Nuclear periphery	IEA
GO:0042405	Component	Nuclear inclusion body	IDA	11839768
GO:0042405	Component	Nuclear inclusion body	IEA
GO:0042802	Function	Identical protein binding	IPI	23238392
GO:0043495	Function	Protein-membrane adaptor activity	IMP	12802065, 15229283
GO:0043657	Component	Host cell	IEA
GO:0044615	Component	Nuclear pore nuclear basket	IDA	11839768
GO:0044615	Component	Nuclear pore nuclear basket	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046832	Process	Negative regulation of RNA export from nucleus	IDA	22253824
GO:0046872	Function	Metal ion binding	IEA
GO:0051028	Process	MRNA transport	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	12802065, 15229283
GO:0075732	Process	Viral penetration into host nucleus	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	21961597, 23238392
GO:1990000	Process	Amyloid fibril formation	IPI	23238392

Other IDs

• MIM: 603948
• HGNC: 8062
• e!Ensembl: ENSG00000124789

Protein

• UniProt ID: P49790
• Protein name: Nuclear pore complex protein Nup153 (153 kDa nucleoporin) (Nucleoporin Nup153)
• Protein function: Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and
• PDB: 2EBQ , 2EBR , 2EBV , 2GQE , 4U0C , 4U0D , 5TSV , 5TSX , 6AYA , 8CKY , 8CL0 , 9CNU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00641	zf-RanBP	722 → 751	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	851 → 880	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	657 → 687	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	793 → 822	Zn-finger in Ran binding protein and others	Domain
  PF08604	Nup153	113 → 621	Nucleoporin Nup153-like	Family
  PF10599	Nup_retrotrp_bd	1385 → 1475	Retro-transposon transporting motif	Domain

• Sequence:

  MASGAGGVGGGGGGKIRTRRCHQGPIKPYQQGRQQHQGILSRVTESVKNIVPGWLQRYFN
  KNEDVCSCSTDTSEVPRWPENKEDHLVYADEESSNITDGRITPEPAVSNTEEPSTTSTAS
  NYPDVLTRPSLHRSHLNFSMLESPALHCQPSTSSAFPIGSSGFSLVKEIKDSTSQHDDDN
  ISTTSGFSSRASDKDITVSKNTSLPPLWSPEAERSHSLSQHTATSSKKPAFNLSAFGTLS
  PSLGNSSILKTSQLGDSPFYPGKTTYGGAAAAVRQSKLRNTPYQAPVRRQMKAKQLSAQS
  YGVTSSTARRILQSLEKMSSPLADAKRIPSIVSSPLNSPLDRSGIDITDFQAKREKVDSQ
  YPPVQRLMTPKPVSIATNRSVYFKPSLTPSGEFRKTNQRIDNKCSTGYEKNMTPGQNREQ
  RESGFSYPNFSLPAANGLSSGVGGGGGKMRRERTRFVASKPLEEEEMEVPVLPKISLPIT
  SSSLPTFNFSSPEITTSSPSPINSSQALTNKVQMTSPSSTGSPMFKFSSPIVKSTEANVL
  PPSSIGFTFSVPVAKTAELSGSSSTLEPIISSSAHHVTTVNSTNCKKTPPEDCEGPFRPA
  EILKEGSVLDILKSPGFASPKIDSVAAQPTATSPVVYTRPAISSFSSSGIGFGESLKAGS
  SWQCDTCLLQNKVTDNKCIACQAAKLSPRDTAKQTGIETPNKSGKTTLSASGTGFGDKFK
  PVIGTWDCDTCLVQNKPEAIKCVACETPKPGTCVKRALTLTVVSESAETMTASSSSCTVT
  TGTLGFGDKFKRPIGSWECSVCCVSNNAEDNKCVSCMSEKPGSSVPASSSSTVPVSLPSG
  GSLGLEKFKKPEGSWDCELCLVQNKADSTKCLACESAKPGTKSGFKGFDTSSSSSNSAAS
  SSFKFGVSSSSSGPSQTLTSTGNFKFGDQGGFKIGVSSDSGSINPMSEGFKFSKPIGDFK
  FGVSSESKPEEVKKDSKNDNFKFGLSSGLSNPVSLTPFQFGVSNLGQEEKKEELPKSSSA
  GFSFGTGVINSTPAPANTIVTSENKSSFNLGTIETKSASVAPFTCKTSEAKKEEMPATKG
  GFSFGNVEPASLPSASVFVLGRTEEKQQEPVTSTSLVFGKKADNEEPKCQPVFSFGNSEQ
  TKDENSSKSTFSFSMTKPSEKESEQPAKATFAFGAQTSTTADQGAAKPVFSFLNNSSSSS
  STPATSAGGGIFGSSTSSSNPPVATFVFGQSSNPVSSSAFGNTAESSTSQSLLFSQDSKL
  ATTSSTGTAVTPFVFGPGASSNNTTTSGFGFGATTTSSSAGSSFVFGTGPSAPSASPAFG
  ANQTPTFGQSQGASQPNPPGFGSISSSTALFPTGSQPAPPTFGTVSSSSQPPVFGQQPSQ
  SAFGSGTTPNSSSAFQFGSSTTNFNFTNNSPSGVFTFGANSSTPAASAQPSGSGGFPFNQ
  SPAAFTVGSNGKNVFSSSGTSFSGRKIKTAVRRRK

• Sequence length: 1475

Pathways

KEGG Pathway	Reactome Pathway
Nucleocytoplasmic transport	ISG15 antiviral mechanism
Viral life cycle - HIV-1	Transport of the SLBP independent Mature mRNA
Amyotrophic lateral sclerosis	Transport of the SLBP Dependant Mature mRNA
	Transport of Mature mRNA Derived from an Intronless Transcript
	Transport of Mature mRNA derived from an Intron-Containing Transcript
	Rev-mediated nuclear export of HIV RNA
	Transport of Ribonucleoproteins into the Host Nucleus
	NS1 Mediated Effects on Host Pathways
	Viral Messenger RNA Synthesis
	NEP/NS2 Interacts with the Cellular Export Machinery
	Regulation of Glucokinase by Glucokinase Regulatory Protein
	Vpr-mediated nuclear import of PICs
	snRNP Assembly
	SUMOylation of DNA damage response and repair proteins
	SUMOylation of ubiquitinylation proteins
	Nuclear Pore Complex (NPC) Disassembly
	Regulation of HSF1-mediated heat shock response
	SUMOylation of SUMOylation proteins
	SUMOylation of chromatin organization proteins
	SUMOylation of RNA binding proteins
	SUMOylation of DNA replication proteins
	Transcriptional regulation by small RNAs
	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
	tRNA processing in the nucleus
	HCMV Early Events
	HCMV Late Events

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)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CHOLELITHIASIS	—	GWAS catalog	34651315, 37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY ARTERY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	34651315	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	30898391	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	30898391	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary artery atresia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (15)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	19816199		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37924814	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25137373	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30347601		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24041470		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29963256		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30347601		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30347601		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30689197		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24041470		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24041470	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29963256		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16180235		★☆☆☆☆ Found in Text Mining only
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	30689197		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATG16L2 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. DDX17 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. FRAT2 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. GPR61 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. IRF2BP1 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATG16L2	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
DDX17	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
FRAT2	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
GPR61	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
IRF2BP1	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 2 of 5 related genesFRAT2, GPR61 Coronary artery disease Linked via 1 of 5 related genesATG16L2 Bipolar disorder Linked via 1 of 5 related genesGPR61 Major depressive disorder Linked via 1 of 5 related genesGPR61 Metabolic syndrome Linked via 1 of 5 related genesGPR61

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	2	["FRAT2","GPR61"]
Coronary artery disease	1	["ATG16L2"]
Bipolar disorder	1	["GPR61"]
Major depressive disorder	1	["GPR61"]
Metabolic syndrome	1	["GPR61"]