WDR48 (WD repeat domain 48)

Gene

• Entrez ID: 57599
• Gene name: WD repeat domain 48
• Gene symbol: WDR48
• Synonyms (NCBI Gene): Bun62, P80, SPG60, UAF1
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051598	hsa-let-7e-5p	CLASH	23622248
MIRT044190	hsa-miR-99b-5p	CLASH	23622248
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT1490814	hsa-miR-147	CLIP-seq
MIRT1490815	hsa-miR-2053	CLIP-seq
MIRT1490816	hsa-miR-3121-5p	CLIP-seq
MIRT1490817	hsa-miR-3132	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT1490819	hsa-miR-3668	CLIP-seq
MIRT1490820	hsa-miR-3911	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT1490823	hsa-miR-3935	CLIP-seq
MIRT1490824	hsa-miR-3974	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT1490826	hsa-miR-4506	CLIP-seq
MIRT1490827	hsa-miR-4797-5p	CLIP-seq
MIRT1490828	hsa-miR-494	CLIP-seq
MIRT1490829	hsa-miR-548v	CLIP-seq
MIRT1490830	hsa-miR-569	CLIP-seq
MIRT1490831	hsa-miR-574-5p	CLIP-seq
MIRT1490832	hsa-miR-577	CLIP-seq
MIRT1490833	hsa-miR-593	CLIP-seq
MIRT1490834	hsa-miR-644	CLIP-seq
MIRT1490835	hsa-miR-759	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147939	hsa-miR-3173-3p	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT1490828	hsa-miR-494	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2368383	hsa-miR-4643	CLIP-seq
MIRT2368384	hsa-miR-466	CLIP-seq
MIRT2368385	hsa-miR-4717-3p	CLIP-seq
MIRT2368386	hsa-miR-4789-3p	CLIP-seq
MIRT2368387	hsa-miR-4802-3p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2368388	hsa-miR-516a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2396951	hsa-miR-3924	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662022	hsa-miR-103a	CLIP-seq
MIRT2662023	hsa-miR-107	CLIP-seq
MIRT2662024	hsa-miR-128	CLIP-seq
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2662025	hsa-miR-1587	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2662026	hsa-miR-302a	CLIP-seq
MIRT2662027	hsa-miR-302b	CLIP-seq
MIRT2662028	hsa-miR-302c	CLIP-seq
MIRT2662029	hsa-miR-302d	CLIP-seq
MIRT2662030	hsa-miR-302e	CLIP-seq
MIRT2662031	hsa-miR-3064-3p	CLIP-seq
MIRT2662032	hsa-miR-3065-3p	CLIP-seq
MIRT2662033	hsa-miR-3130-3p	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2662034	hsa-miR-3170	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2662035	hsa-miR-338-3p	CLIP-seq
MIRT2662036	hsa-miR-3622b-5p	CLIP-seq
MIRT2662037	hsa-miR-3654	CLIP-seq
MIRT2662038	hsa-miR-3685	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2662039	hsa-miR-372	CLIP-seq
MIRT2662040	hsa-miR-373	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT2662041	hsa-miR-3921	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT2662042	hsa-miR-3944-5p	CLIP-seq
MIRT2662043	hsa-miR-421	CLIP-seq
MIRT2662044	hsa-miR-4292	CLIP-seq
MIRT2662045	hsa-miR-4308	CLIP-seq
MIRT2662046	hsa-miR-4315	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT2662047	hsa-miR-4492	CLIP-seq
MIRT2662048	hsa-miR-4498	CLIP-seq
MIRT2662049	hsa-miR-451b	CLIP-seq
MIRT2662050	hsa-miR-4530	CLIP-seq
MIRT2662051	hsa-miR-4533	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2662052	hsa-miR-4638-3p	CLIP-seq
MIRT2662053	hsa-miR-4649-3p	CLIP-seq
MIRT2662054	hsa-miR-4653-5p	CLIP-seq
MIRT2662055	hsa-miR-4656	CLIP-seq
MIRT2662056	hsa-miR-4675	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662057	hsa-miR-4715-3p	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT2662058	hsa-miR-4741	CLIP-seq
MIRT2662059	hsa-miR-4790-5p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2662060	hsa-miR-520a-3p	CLIP-seq
MIRT2662061	hsa-miR-520a-5p	CLIP-seq
MIRT2662062	hsa-miR-520b	CLIP-seq
MIRT2662063	hsa-miR-520c-3p	CLIP-seq
MIRT2662064	hsa-miR-520d-3p	CLIP-seq
MIRT2662065	hsa-miR-520e	CLIP-seq
MIRT2662066	hsa-miR-525-5p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2662067	hsa-miR-548a-3p	CLIP-seq
MIRT2662068	hsa-miR-548b-3p	CLIP-seq
MIRT2662069	hsa-miR-548e	CLIP-seq
MIRT2662070	hsa-miR-548f	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2662071	hsa-miR-599	CLIP-seq
MIRT2662072	hsa-miR-619	CLIP-seq
MIRT2662073	hsa-miR-640	CLIP-seq
MIRT2662074	hsa-miR-649	CLIP-seq
MIRT2662075	hsa-miR-762	CLIP-seq
MIRT2662076	hsa-miR-765	CLIP-seq
MIRT2662077	hsa-miR-767-3p	CLIP-seq
MIRT2662022	hsa-miR-103a	CLIP-seq
MIRT2662023	hsa-miR-107	CLIP-seq
MIRT2662024	hsa-miR-128	CLIP-seq
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2662025	hsa-miR-1587	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2662026	hsa-miR-302a	CLIP-seq
MIRT2662027	hsa-miR-302b	CLIP-seq
MIRT2662028	hsa-miR-302c	CLIP-seq
MIRT2662029	hsa-miR-302d	CLIP-seq
MIRT2662030	hsa-miR-302e	CLIP-seq
MIRT2662031	hsa-miR-3064-3p	CLIP-seq
MIRT2662032	hsa-miR-3065-3p	CLIP-seq
MIRT2662033	hsa-miR-3130-3p	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2662034	hsa-miR-3170	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2662035	hsa-miR-338-3p	CLIP-seq
MIRT2662036	hsa-miR-3622b-5p	CLIP-seq
MIRT2662037	hsa-miR-3654	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2662039	hsa-miR-372	CLIP-seq
MIRT2662040	hsa-miR-373	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT2662041	hsa-miR-3921	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT2662042	hsa-miR-3944-5p	CLIP-seq
MIRT2662043	hsa-miR-421	CLIP-seq
MIRT2662044	hsa-miR-4292	CLIP-seq
MIRT2662045	hsa-miR-4308	CLIP-seq
MIRT2662046	hsa-miR-4315	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT2662047	hsa-miR-4492	CLIP-seq
MIRT2662048	hsa-miR-4498	CLIP-seq
MIRT2662049	hsa-miR-451b	CLIP-seq
MIRT2662050	hsa-miR-4530	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2662052	hsa-miR-4638-3p	CLIP-seq
MIRT2662053	hsa-miR-4649-3p	CLIP-seq
MIRT2662054	hsa-miR-4653-5p	CLIP-seq
MIRT2662055	hsa-miR-4656	CLIP-seq
MIRT2662056	hsa-miR-4675	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662057	hsa-miR-4715-3p	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT2662058	hsa-miR-4741	CLIP-seq
MIRT2662059	hsa-miR-4790-5p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2662060	hsa-miR-520a-3p	CLIP-seq
MIRT2662061	hsa-miR-520a-5p	CLIP-seq
MIRT2662062	hsa-miR-520b	CLIP-seq
MIRT2662063	hsa-miR-520c-3p	CLIP-seq
MIRT2662064	hsa-miR-520d-3p	CLIP-seq
MIRT2662065	hsa-miR-520e	CLIP-seq
MIRT2662066	hsa-miR-525-5p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2662067	hsa-miR-548a-3p	CLIP-seq
MIRT2662068	hsa-miR-548b-3p	CLIP-seq
MIRT2662069	hsa-miR-548e	CLIP-seq
MIRT2662070	hsa-miR-548f	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2662071	hsa-miR-599	CLIP-seq
MIRT2662072	hsa-miR-619	CLIP-seq
MIRT2662073	hsa-miR-640	CLIP-seq
MIRT2662074	hsa-miR-649	CLIP-seq
MIRT2662075	hsa-miR-762	CLIP-seq
MIRT2662077	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0003677	Function	DNA binding	IDA	31253762
GO:0003690	Function	Double-stranded DNA binding	IDA	27239033
GO:0003697	Function	Single-stranded DNA binding	IDA	27239033
GO:0005515	Function	Protein binding	IPI	18082604, 19075014, 24145035, 27239033, 27373336, 27463890, 27650958
GO:0005634	Component	Nucleus	IDA	18082604
GO:0005654	Component	Nucleoplasm	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	27239033, 27463890
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0016032	Process	Viral process	IEA
GO:0016579	Process	Protein deubiquitination	IDA	18082604, 19075014, 24145035
GO:0016579	Process	Protein deubiquitination	TAS
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036297	Process	Interstrand cross-link repair	TAS
GO:0042769	Process	DNA damage response, detection of DNA damage	TAS
GO:0043130	Function	Ubiquitin binding	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043588	Process	Skin development	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0072520	Process	Seminiferous tubule development	IEA
GO:1902525	Process	Regulation of protein monoubiquitination	IEA
GO:1903003	Process	Positive regulation of protein deubiquitination	IBA	21873635
GO:1903003	Process	Positive regulation of protein deubiquitination	IDA	31253762
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27239033, 27463890

Other IDs

• MIM: 612167
• HGNC: 30914
• e!Ensembl: ENSG00000114742

Protein

• UniProt ID: Q8TAF3
• Protein name: WD repeat-containing protein 48 (USP1-associated factor 1) (WD repeat endosomal protein) (p80)
• Protein function: Regulator of deubiquitinating complexes, which acts as a strong activator of USP1, USP12 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029, PubMed:31253762). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost ina
• PDB: 5CVL, 5CVN, 5CVO, 5K1A, 5K1B, 5K1C, 5L8E, 5L8W, 6JLQ, 7AY0, 7AY1, 7AY2, 8A9J, 8A9K, 9EBS, 9HNW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	66 → 103	WD domain, G-beta repeat	Repeat
  PF00400	WD40	107 → 145	WD domain, G-beta repeat	Repeat
  PF00400	WD40	158 → 196	WD domain, G-beta repeat	Repeat
  PF00400	WD40	200 → 238	WD domain, G-beta repeat	Repeat
  PF11816	DUF3337	509 → 674	Domain of unknown function (DUF3337)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12196293}.
• Sequence:

  MAAHHRQNTAGRRKVQVSYVIRDEVEKYNRNGVNALQLDPALNRLFTAGRDSIIRIWSVN
  QHKQDPYIASMEHHTDWVNDIVLCCNGKTLISASSDTTVKVWNAHKGFCMSTLRTHKDYV
  KALAYAKDKELVASAGLDRQIFLWDVNTLTALTASNNTVTTSSLSGNKDSIYSLAMNQLG
  TIIVSGSTEKVLRVWDPRTCAKLMKLKGHTDNVKALLLNRDGTQCLSGSSDGTIRLWSLG
  QQRCIATYRVHDEGVWALQVNDAFTHVYSGGRDRKIYCTDLRNPDIRVLICEEKAPVLKM
  ELDRSADPPPAIWVATTKSTVNKWTLKGIHNFRASGDYDNDCTNPITPLCTQPDQVIKGG
  ASIIQCHILNDKRHILTKDTNNNVAYWDVLKACKVEDLGKVDFEDEIKKRFKMVYVPNWF
  SVDLKTGMLTITLDESDCFAAWVSAKDAGFSSPDGSDPKLNLGGLLLQALLEYWPRTHVN
  PMDEEENEVNHVNGEQENRVQKGNGYFQVPPHTPVIFGEAGGRTLFRLLCRDSGGETESM
  LLNETVPQWVIDITVDKNMPKFNKIPFYLQPHASSGAKTLKKDRLSASDMLQVRKVMEHV
  YEKIINLDNESQTTSSSNNEKPGEQEKEEDIAVLAEEKIELLCQDQVLDPNMDLRTVKHF
  IWKSGGDLTLHYRQKST

• Sequence length: 677

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Recognition of DNA damage by PCNA-containing replication complex
Ub-specific processing proteases
Fanconi Anemia Pathway
Signaling by cytosolic PDGFRA and PDGFRB fusion proteins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	Mild Mental Retardation	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
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spastic paraplegia	Spastic Paraplegia, Autosomal recessive spastic paraplegia type 60	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	24482476

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic Paraplegia	autosomal recessive spastic paraplegia type 60			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	36403194
Carcinoma Non Small Cell Lung	Associate	22118673, 25229643
Colorectal Neoplasms	Associate	24145035
Drug Hypersensitivity	Associate	27239033
Fanconi Anemia	Associate	18082604, 19075014, 20147737, 22118673, 30890612, 31253762, 32350107, 33795880
Intracranial Aneurysm	Associate	26186006
Neoplasm Metastasis	Associate	36403194
Neoplasms	Associate	22701671, 24145035, 32951278
Prostatic Neoplasms	Associate	26462181
Triple Negative Breast Neoplasms	Associate	33461373