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	23279
Gene name	Nucleoporin 160
Gene symbol	NUP160
Synonyms (NCBI Gene)	NPHS19
Chromosome	11
Chromosome location	11p11.2
Summary	NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023922	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT031904	hsa-miR-16-5p	Proteomics	18668040
MIRT046496	hsa-miR-15b-5p	CLASH	23622248
MIRT043189	hsa-miR-324-5p	CLASH	23622248
MIRT038904	hsa-miR-93-3p	CLASH	23622248
MIRT1199063	hsa-miR-200b	CLIP-seq
MIRT1199064	hsa-miR-200c	CLIP-seq
MIRT1199065	hsa-miR-298	CLIP-seq
MIRT1199066	hsa-miR-300	CLIP-seq
MIRT1199067	hsa-miR-3166	CLIP-seq
MIRT1199068	hsa-miR-3591-3p	CLIP-seq
MIRT1199069	hsa-miR-3609	CLIP-seq
MIRT1199070	hsa-miR-3613-5p	CLIP-seq
MIRT1199071	hsa-miR-3672	CLIP-seq
MIRT1199072	hsa-miR-3678-3p	CLIP-seq
MIRT1199073	hsa-miR-374c	CLIP-seq
MIRT1199074	hsa-miR-381	CLIP-seq
MIRT1199075	hsa-miR-3944-5p	CLIP-seq
MIRT1199076	hsa-miR-3978	CLIP-seq
MIRT1199077	hsa-miR-409-3p	CLIP-seq
MIRT1199078	hsa-miR-4256	CLIP-seq
MIRT1199079	hsa-miR-429	CLIP-seq
MIRT1199080	hsa-miR-4290	CLIP-seq
MIRT1199081	hsa-miR-4643	CLIP-seq
MIRT1199082	hsa-miR-466	CLIP-seq
MIRT1199083	hsa-miR-4666-3p	CLIP-seq
MIRT1199084	hsa-miR-4667-3p	CLIP-seq
MIRT1199085	hsa-miR-4670-3p	CLIP-seq
MIRT1199086	hsa-miR-4729	CLIP-seq
MIRT1199087	hsa-miR-4771	CLIP-seq
MIRT1199088	hsa-miR-4775	CLIP-seq
MIRT1199089	hsa-miR-4786-5p	CLIP-seq
MIRT1199090	hsa-miR-4789-3p	CLIP-seq
MIRT1199091	hsa-miR-4798-5p	CLIP-seq
MIRT1199092	hsa-miR-4799-5p	CLIP-seq
MIRT1199093	hsa-miR-493	CLIP-seq
MIRT1199094	hsa-miR-499a-5p	CLIP-seq
MIRT1199095	hsa-miR-548ah	CLIP-seq
MIRT1199096	hsa-miR-581	CLIP-seq
MIRT1199097	hsa-miR-582-5p	CLIP-seq
MIRT1199098	hsa-miR-618	CLIP-seq
MIRT1199099	hsa-miR-627	CLIP-seq
MIRT1199100	hsa-miR-645	CLIP-seq
MIRT1199101	hsa-miR-646	CLIP-seq
MIRT1199102	hsa-miR-655	CLIP-seq
MIRT1199103	hsa-miR-718	CLIP-seq
MIRT1199104	hsa-miR-769-5p	CLIP-seq
MIRT1199105	hsa-miR-924	CLIP-seq
MIRT1199106	hsa-miR-935	CLIP-seq
MIRT1199107	hsa-miR-944	CLIP-seq
MIRT2057714	hsa-miR-1234	CLIP-seq
MIRT2057715	hsa-miR-133a	CLIP-seq
MIRT2057716	hsa-miR-133b	CLIP-seq
MIRT2057717	hsa-miR-1911	CLIP-seq
MIRT2057718	hsa-miR-323-3p	CLIP-seq
MIRT2057719	hsa-miR-323b-3p	CLIP-seq
MIRT1199069	hsa-miR-3609	CLIP-seq
MIRT1199072	hsa-miR-3678-3p	CLIP-seq
MIRT1199076	hsa-miR-3978	CLIP-seq
MIRT1199085	hsa-miR-4670-3p	CLIP-seq
MIRT2057720	hsa-miR-4698	CLIP-seq
MIRT1199088	hsa-miR-4775	CLIP-seq
MIRT2057721	hsa-miR-4778-3p	CLIP-seq
MIRT1199093	hsa-miR-493	CLIP-seq
MIRT2057722	hsa-miR-520d-5p	CLIP-seq
MIRT2057723	hsa-miR-524-5p	CLIP-seq
MIRT1199095	hsa-miR-548ah	CLIP-seq
MIRT1199099	hsa-miR-627	CLIP-seq
MIRT1199105	hsa-miR-924	CLIP-seq
MIRT2057714	hsa-miR-1234	CLIP-seq
MIRT2286085	hsa-miR-134	CLIP-seq
MIRT2057717	hsa-miR-1911	CLIP-seq
MIRT1199065	hsa-miR-298	CLIP-seq
MIRT2286086	hsa-miR-29a	CLIP-seq
MIRT2286087	hsa-miR-29b	CLIP-seq
MIRT2286088	hsa-miR-29c	CLIP-seq
MIRT1199066	hsa-miR-300	CLIP-seq
MIRT2286089	hsa-miR-3118	CLIP-seq
MIRT2286090	hsa-miR-3140-3p	CLIP-seq
MIRT2286091	hsa-miR-3152-3p	CLIP-seq
MIRT1199067	hsa-miR-3166	CLIP-seq
MIRT2286092	hsa-miR-323-5p	CLIP-seq
MIRT1199068	hsa-miR-3591-3p	CLIP-seq
MIRT1199071	hsa-miR-3672	CLIP-seq
MIRT1199074	hsa-miR-381	CLIP-seq
MIRT1199075	hsa-miR-3944-5p	CLIP-seq
MIRT2286093	hsa-miR-4504	CLIP-seq
MIRT1199083	hsa-miR-4666-3p	CLIP-seq
MIRT1199087	hsa-miR-4771	CLIP-seq
MIRT1199089	hsa-miR-4786-5p	CLIP-seq
MIRT2286094	hsa-miR-486-5p	CLIP-seq
MIRT1199094	hsa-miR-499a-5p	CLIP-seq
MIRT2057722	hsa-miR-520d-5p	CLIP-seq
MIRT2057723	hsa-miR-524-5p	CLIP-seq
MIRT2286095	hsa-miR-548c-3p	CLIP-seq
MIRT1199096	hsa-miR-581	CLIP-seq
MIRT1199101	hsa-miR-646	CLIP-seq
MIRT1199104	hsa-miR-769-5p	CLIP-seq
MIRT2286096	hsa-miR-876-3p	CLIP-seq
MIRT2391820	hsa-miR-1226	CLIP-seq
MIRT2286086	hsa-miR-29a	CLIP-seq
MIRT2286087	hsa-miR-29b	CLIP-seq
MIRT2286088	hsa-miR-29c	CLIP-seq
MIRT2286091	hsa-miR-3152-3p	CLIP-seq
MIRT2391821	hsa-miR-634	CLIP-seq
MIRT2431757	hsa-miR-1299	CLIP-seq
MIRT2431758	hsa-miR-2113	CLIP-seq
MIRT2431759	hsa-miR-223	CLIP-seq
MIRT2431760	hsa-miR-302f	CLIP-seq
MIRT2286090	hsa-miR-3140-3p	CLIP-seq
MIRT2431761	hsa-miR-3177-5p	CLIP-seq
MIRT2431762	hsa-miR-338-5p	CLIP-seq
MIRT2431763	hsa-miR-33a	CLIP-seq
MIRT2431764	hsa-miR-33b	CLIP-seq
MIRT2431765	hsa-miR-3619-3p	CLIP-seq
MIRT2431766	hsa-miR-378	CLIP-seq
MIRT2431767	hsa-miR-378b	CLIP-seq
MIRT2431768	hsa-miR-378c	CLIP-seq
MIRT2431769	hsa-miR-378d	CLIP-seq
MIRT2431770	hsa-miR-378e	CLIP-seq
MIRT2431771	hsa-miR-378f	CLIP-seq
MIRT2431772	hsa-miR-378h	CLIP-seq
MIRT2431773	hsa-miR-378i	CLIP-seq
MIRT2431774	hsa-miR-422a	CLIP-seq
MIRT2431775	hsa-miR-4277	CLIP-seq
MIRT2431776	hsa-miR-4638-3p	CLIP-seq
MIRT2431777	hsa-miR-4776-5p	CLIP-seq
MIRT2431778	hsa-miR-4782-5p	CLIP-seq
MIRT2431779	hsa-miR-516b	CLIP-seq
MIRT2431780	hsa-miR-552	CLIP-seq
MIRT2431781	hsa-miR-599	CLIP-seq
MIRT2057714	hsa-miR-1234	CLIP-seq
MIRT2583977	hsa-miR-1236	CLIP-seq
MIRT2583978	hsa-miR-1246	CLIP-seq
MIRT2583979	hsa-miR-1267	CLIP-seq
MIRT2583980	hsa-miR-1290	CLIP-seq
MIRT2057717	hsa-miR-1911	CLIP-seq
MIRT2583981	hsa-miR-297	CLIP-seq
MIRT1199065	hsa-miR-298	CLIP-seq
MIRT2583982	hsa-miR-3134	CLIP-seq
MIRT2583983	hsa-miR-3149	CLIP-seq
MIRT1199067	hsa-miR-3166	CLIP-seq
MIRT2583984	hsa-miR-3167	CLIP-seq
MIRT1199070	hsa-miR-3613-5p	CLIP-seq
MIRT2583985	hsa-miR-3664-5p	CLIP-seq
MIRT1199071	hsa-miR-3672	CLIP-seq
MIRT2583986	hsa-miR-376a	CLIP-seq
MIRT2583987	hsa-miR-376b	CLIP-seq
MIRT2583988	hsa-miR-3921	CLIP-seq
MIRT1199075	hsa-miR-3944-5p	CLIP-seq
MIRT1199077	hsa-miR-409-3p	CLIP-seq
MIRT2583989	hsa-miR-4251	CLIP-seq
MIRT2583990	hsa-miR-4267	CLIP-seq
MIRT1199080	hsa-miR-4290	CLIP-seq
MIRT2583991	hsa-miR-4329	CLIP-seq
MIRT2583992	hsa-miR-4522	CLIP-seq
MIRT2583993	hsa-miR-4534	CLIP-seq
MIRT2583994	hsa-miR-4637	CLIP-seq
MIRT2583995	hsa-miR-4639-5p	CLIP-seq
MIRT1199081	hsa-miR-4643	CLIP-seq
MIRT2583996	hsa-miR-4653-5p	CLIP-seq
MIRT1199082	hsa-miR-466	CLIP-seq
MIRT1199084	hsa-miR-4667-3p	CLIP-seq
MIRT1199085	hsa-miR-4670-3p	CLIP-seq
MIRT2583997	hsa-miR-4699-3p	CLIP-seq
MIRT2583998	hsa-miR-4714-5p	CLIP-seq
MIRT1199086	hsa-miR-4729	CLIP-seq
MIRT1199087	hsa-miR-4771	CLIP-seq
MIRT1199090	hsa-miR-4789-3p	CLIP-seq
MIRT2583999	hsa-miR-487a	CLIP-seq
MIRT1199094	hsa-miR-499a-5p	CLIP-seq
MIRT2057722	hsa-miR-520d-5p	CLIP-seq
MIRT2057723	hsa-miR-524-5p	CLIP-seq
MIRT2286095	hsa-miR-548c-3p	CLIP-seq
MIRT2584000	hsa-miR-580	CLIP-seq
MIRT1199096	hsa-miR-581	CLIP-seq
MIRT1199097	hsa-miR-582-5p	CLIP-seq
MIRT2584001	hsa-miR-643	CLIP-seq
MIRT1199103	hsa-miR-718	CLIP-seq
MIRT2584002	hsa-miR-876-5p	CLIP-seq
MIRT1199106	hsa-miR-935	CLIP-seq
MIRT2057714	hsa-miR-1234	CLIP-seq
MIRT2583977	hsa-miR-1236	CLIP-seq
MIRT2583978	hsa-miR-1246	CLIP-seq
MIRT2583979	hsa-miR-1267	CLIP-seq
MIRT2583980	hsa-miR-1290	CLIP-seq
MIRT2057717	hsa-miR-1911	CLIP-seq
MIRT2583981	hsa-miR-297	CLIP-seq
MIRT1199065	hsa-miR-298	CLIP-seq
MIRT2583982	hsa-miR-3134	CLIP-seq
MIRT2583983	hsa-miR-3149	CLIP-seq
MIRT1199067	hsa-miR-3166	CLIP-seq
MIRT2583984	hsa-miR-3167	CLIP-seq
MIRT1199070	hsa-miR-3613-5p	CLIP-seq
MIRT2583985	hsa-miR-3664-5p	CLIP-seq
MIRT1199071	hsa-miR-3672	CLIP-seq
MIRT2583986	hsa-miR-376a	CLIP-seq
MIRT2583987	hsa-miR-376b	CLIP-seq
MIRT2583988	hsa-miR-3921	CLIP-seq
MIRT1199075	hsa-miR-3944-5p	CLIP-seq
MIRT1199077	hsa-miR-409-3p	CLIP-seq
MIRT2583989	hsa-miR-4251	CLIP-seq
MIRT2583990	hsa-miR-4267	CLIP-seq
MIRT1199080	hsa-miR-4290	CLIP-seq
MIRT2583991	hsa-miR-4329	CLIP-seq
MIRT2583992	hsa-miR-4522	CLIP-seq
MIRT2583993	hsa-miR-4534	CLIP-seq
MIRT2583994	hsa-miR-4637	CLIP-seq
MIRT2583995	hsa-miR-4639-5p	CLIP-seq
MIRT1199081	hsa-miR-4643	CLIP-seq
MIRT2583996	hsa-miR-4653-5p	CLIP-seq
MIRT1199082	hsa-miR-466	CLIP-seq
MIRT1199084	hsa-miR-4667-3p	CLIP-seq
MIRT1199085	hsa-miR-4670-3p	CLIP-seq
MIRT2583997	hsa-miR-4699-3p	CLIP-seq
MIRT2583998	hsa-miR-4714-5p	CLIP-seq
MIRT1199086	hsa-miR-4729	CLIP-seq
MIRT1199087	hsa-miR-4771	CLIP-seq
MIRT1199090	hsa-miR-4789-3p	CLIP-seq
MIRT2286094	hsa-miR-486-5p	CLIP-seq
MIRT2583999	hsa-miR-487a	CLIP-seq
MIRT1199094	hsa-miR-499a-5p	CLIP-seq
MIRT2057722	hsa-miR-520d-5p	CLIP-seq
MIRT2057723	hsa-miR-524-5p	CLIP-seq
MIRT2286095	hsa-miR-548c-3p	CLIP-seq
MIRT2584000	hsa-miR-580	CLIP-seq
MIRT1199096	hsa-miR-581	CLIP-seq
MIRT1199097	hsa-miR-582-5p	CLIP-seq
MIRT2584001	hsa-miR-643	CLIP-seq
MIRT1199103	hsa-miR-718	CLIP-seq
MIRT2584002	hsa-miR-876-5p	CLIP-seq
MIRT1199106	hsa-miR-935	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	IDA	15146057
GO:0005515	Function	Protein binding	IPI	15146057, 17043677, 24315095, 25416956, 30179222, 31413325
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IDA	11564755, 11684705, 17098863
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	IDA	11684705
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0015031	Process	Protein transport	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IDA	11684705
GO:0031080	Component	Nuclear pore outer ring	IDA	17360435
GO:0031080	Component	Nuclear pore outer ring	NAS	15146057, 17363900
GO:0051028	Process	MRNA transport	IEA
GO:0072006	Process	Nephron development	IMP	30179222

MIM	HGNC	e!Ensembl
607614	18017	ENSG00000030066

Q12769

Protein name

Nuclear pore complex protein Nup160 (160 kDa nucleoporin) (Nucleoporin Nup160)

Protein function

Functions as a component of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:11684705). Involved in poly(A)+ RNA transport.

PDB

5A9Q , 7PEQ , 7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11715	Nup160	62 → 577		Family

Sequence

MLHLSAAPPAPPPEVTATARPCLCSVGRRGDGGKMAAAGALERSFVELSGAERERPRHFR
EFTVCSIGTANAVAGAVKYSESAGGFYYVESGKLFSVTRNRFIHWKTSGDTLELMEESLD
INLLNNAIRLKFQNCSVLPGGVYVSETQNRVIILMLTNQTVHRLLLPHPSRMYRSELVVD
SQMQSIFTDIGKVDFTDPCNYQLIPAVPGISPNSTASTAWLSSDGEALFALPCASGGIFV
LKLPPYDIPGMVSVVELKQSSVMQRLLTGWMPTAIRGDQSPSDRPLSLAVHCVEHDAFIF
ALCQDHKLRMWSYKEQMCLMVADMLEYVPVKKDLRLTAGTGHKLRLAYSPTMGLYLGIYM
HAPKRGQFCIFQLVSTESNRYSLDHISSLFTSQETLIDFALTSTDIWALWHDAENQTVVK
YINFEHNVAGQWNPVFMQPLPEEEIVIRDDQDPREMYLQSLFTPGQFTNEALCKALQIFC
RGTERNLDLSWSELKKEVTLAVENELQGSVTEYEFSQEEFRNLQQEFWCKFYACCLQYQE
ALSHPLALHLNPHTNMVCLLKKGYLSFLIPSSLVDHLYLLPYENLLTEDETTISDDVDIA
RDVICLIKCLRLIEESVTVDMSVIMEMSCYNLQSPEKAAEQILEDMITIDVENVMEDICS
KLQEIRNPIHAIGLLIREMDYETEVEMEKGFNPAQPLNIRMNLTQLYGSNTAGYIVCRGV
HKIASTRFLICRDLLILQQLLMRLGDAVIWGTGQLFQAQQDLLHRTAPLLLSYYLIKWGS
ECLATDVPLDTLESNLQHLSVLELTDSGALMANRFVSSPQTIVELFFQEVARKHIISHLF
SQPKAPLSQTGLNWPEMITAITSYLLQLLWPSNPGCLFLECLMGNCQYVQLQDYIQLLHP
WCQVNVGSCRFMLGRCYLVTGEGQKALECFCQAASEVGKEEFLDRLIRSEDGEIVSTPRL
QYYDKVLRLLDVIGLPELVIQLATSAITEAGDDWKSQATLRTCIFKHHLDLGHNSQAYEA
LTQIPDSSRQLDCLRQLVVVLCERSQLQDLVEFPYVNLHNEVVGIIESRARAVDLMTHNY
YELLYAFHIYRHNYRKAGTVMFEYGMRLGREVRTLRGLEKQGNCYLAALNCLRLIRPEYA
WIVQPVSGAVYDRPGASPKRNHDGECTAAPTNRQIEILELEDLEKECSLARIRLTLAQHD
PSAVAVAGSSSAEEMVTLLVQAGLFDTAISLCQTFKLPLTPVFEGLAFKCIKLQFGGEAA
QAEAWAWLAANQLSSVITTKESSATDEAWRLLSTYLERYKVQNNLYHHCVINKLLSHGVP
LPNWLINSYKKVDAAELLRLYLNYDLLEEAVDLVSEYVDAVLGKGHQYFGIEFPLSATAP
MVWLPYSSIDQLLQALGENSANSHNIALSQKILDKLEDYQQKVDKATRDLLYRRTL

Sequence length

1436

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport Amyotrophic lateral sclerosis		ISG15 antiviral mechanism Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Transport of the SLBP independent Mature mRNA 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 Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion 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) RHO GTPases Activate Formins tRNA processing in the nucleus Mitotic Prometaphase HCMV Early Events HCMV Late Events Postmitotic nuclear pore complex (NPC) reformation EML4 and NUDC in mitotic spindle formation

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
Nephrotic syndrome, type 19	Pathogenic	rs2135334498, rs2135385033	RCV001391129 RCV001844383	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NUP160-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	27215977	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29671412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29671412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	BEFREE	26527604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31486501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	30910934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	30179222		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 19	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	30179222		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, TYPE 19	Nephrotic Syndrome	UNIPROT_DG	30179222, 30910934		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria	Proteinuria	Pubtator	30910934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	30179222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NUP160 (nucleoporin 160)