USP18 (ubiquitin specific peptidase 18)

Gene

• Entrez ID: 11274
• Gene name: Ubiquitin specific peptidase 18
• Gene symbol: USP18
• Synonyms: ISG43, PTORCH2, UBP43
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein eff

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1085307118	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602534094	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003365	hsa-miR-221-3p	Reporter assay;Microarray	20018759
MIRT024799	hsa-miR-215-5p	Microarray	19074876
MIRT026176	hsa-miR-192-5p	Microarray	19074876
MIRT028905	hsa-miR-26b-5p	Microarray	19088304
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477856	hsa-miR-1292	CLIP-seq
MIRT1477857	hsa-miR-138	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT1477859	hsa-miR-188-5p	CLIP-seq
MIRT1477860	hsa-miR-24	CLIP-seq
MIRT1477861	hsa-miR-3136-5p	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT1477863	hsa-miR-3161	CLIP-seq
MIRT1477864	hsa-miR-3184	CLIP-seq
MIRT1477865	hsa-miR-328	CLIP-seq
MIRT1477866	hsa-miR-340	CLIP-seq
MIRT1477867	hsa-miR-345	CLIP-seq
MIRT1477868	hsa-miR-361-3p	CLIP-seq
MIRT1477869	hsa-miR-383	CLIP-seq
MIRT1477870	hsa-miR-409-5p	CLIP-seq
MIRT1477871	hsa-miR-423-5p	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT1477873	hsa-miR-4256	CLIP-seq
MIRT1477874	hsa-miR-4274	CLIP-seq
MIRT1477875	hsa-miR-4279	CLIP-seq
MIRT1477876	hsa-miR-4299	CLIP-seq
MIRT1477877	hsa-miR-4422	CLIP-seq
MIRT1477878	hsa-miR-4436a	CLIP-seq
MIRT1477879	hsa-miR-4439	CLIP-seq
MIRT1477880	hsa-miR-4471	CLIP-seq
MIRT1477881	hsa-miR-4513	CLIP-seq
MIRT1477882	hsa-miR-4519	CLIP-seq
MIRT1477883	hsa-miR-4527	CLIP-seq
MIRT1477884	hsa-miR-4646-5p	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT1477887	hsa-miR-4717-3p	CLIP-seq
MIRT1477888	hsa-miR-4743	CLIP-seq
MIRT1477889	hsa-miR-4772-5p	CLIP-seq
MIRT1477890	hsa-miR-492	CLIP-seq
MIRT1477891	hsa-miR-520d-5p	CLIP-seq
MIRT1477892	hsa-miR-524-5p	CLIP-seq
MIRT1477893	hsa-miR-544b	CLIP-seq
MIRT1477894	hsa-miR-570	CLIP-seq
MIRT1477895	hsa-miR-889	CLIP-seq
MIRT1477896	hsa-miR-935	CLIP-seq
MIRT1477897	hsa-miR-944	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2143954	hsa-miR-200b	CLIP-seq
MIRT2143955	hsa-miR-200c	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2143958	hsa-miR-369-3p	CLIP-seq
MIRT2143959	hsa-miR-374a	CLIP-seq
MIRT2143960	hsa-miR-374b	CLIP-seq
MIRT2143961	hsa-miR-429	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT2143964	hsa-miR-568	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2364180	hsa-miR-191	CLIP-seq
MIRT2143954	hsa-miR-200b	CLIP-seq
MIRT2143955	hsa-miR-200c	CLIP-seq
MIRT2364181	hsa-miR-216b	CLIP-seq
MIRT2364182	hsa-miR-2277-3p	CLIP-seq
MIRT2364183	hsa-miR-300	CLIP-seq
MIRT2364184	hsa-miR-3148	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2364185	hsa-miR-3157-5p	CLIP-seq
MIRT2364186	hsa-miR-3662	CLIP-seq
MIRT2364187	hsa-miR-3663-5p	CLIP-seq
MIRT2364188	hsa-miR-3688-3p	CLIP-seq
MIRT2143958	hsa-miR-369-3p	CLIP-seq
MIRT2143959	hsa-miR-374a	CLIP-seq
MIRT2143960	hsa-miR-374b	CLIP-seq
MIRT2364189	hsa-miR-381	CLIP-seq
MIRT2364190	hsa-miR-409-3p	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT2143961	hsa-miR-429	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT2364191	hsa-miR-4640-3p	CLIP-seq
MIRT2364192	hsa-miR-4666-3p	CLIP-seq
MIRT2364193	hsa-miR-4676-5p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT2364194	hsa-miR-4694-3p	CLIP-seq
MIRT2364195	hsa-miR-4722-3p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT1477891	hsa-miR-520d-5p	CLIP-seq
MIRT1477892	hsa-miR-524-5p	CLIP-seq
MIRT2143964	hsa-miR-568	CLIP-seq
MIRT2364196	hsa-miR-575	CLIP-seq
MIRT2364197	hsa-miR-665	CLIP-seq
MIRT2364198	hsa-miR-873	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477856	hsa-miR-1292	CLIP-seq
MIRT1477857	hsa-miR-138	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2143954	hsa-miR-200b	CLIP-seq
MIRT2143955	hsa-miR-200c	CLIP-seq
MIRT2364183	hsa-miR-300	CLIP-seq
MIRT2657908	hsa-miR-3129-3p	CLIP-seq
MIRT1477861	hsa-miR-3136-5p	CLIP-seq
MIRT2657909	hsa-miR-3145-3p	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2364185	hsa-miR-3157-5p	CLIP-seq
MIRT1477865	hsa-miR-328	CLIP-seq
MIRT1477867	hsa-miR-345	CLIP-seq
MIRT1477868	hsa-miR-361-3p	CLIP-seq
MIRT2657910	hsa-miR-3663-3p	CLIP-seq
MIRT2364187	hsa-miR-3663-5p	CLIP-seq
MIRT2143958	hsa-miR-369-3p	CLIP-seq
MIRT2143959	hsa-miR-374a	CLIP-seq
MIRT2143960	hsa-miR-374b	CLIP-seq
MIRT2364189	hsa-miR-381	CLIP-seq
MIRT1477869	hsa-miR-383	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT1477873	hsa-miR-4256	CLIP-seq
MIRT2657911	hsa-miR-4286	CLIP-seq
MIRT2143961	hsa-miR-429	CLIP-seq
MIRT1477876	hsa-miR-4299	CLIP-seq
MIRT2657912	hsa-miR-4301	CLIP-seq
MIRT2657913	hsa-miR-431	CLIP-seq
MIRT1477877	hsa-miR-4422	CLIP-seq
MIRT1477878	hsa-miR-4436a	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT1477879	hsa-miR-4439	CLIP-seq
MIRT1477880	hsa-miR-4471	CLIP-seq
MIRT2657914	hsa-miR-4509	CLIP-seq
MIRT1477881	hsa-miR-4513	CLIP-seq
MIRT1477883	hsa-miR-4527	CLIP-seq
MIRT1477884	hsa-miR-4646-5p	CLIP-seq
MIRT2364192	hsa-miR-4666-3p	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT2364193	hsa-miR-4676-5p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT1477887	hsa-miR-4717-3p	CLIP-seq
MIRT1477888	hsa-miR-4743	CLIP-seq
MIRT1477889	hsa-miR-4772-5p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT1477890	hsa-miR-492	CLIP-seq
MIRT2657915	hsa-miR-503	CLIP-seq
MIRT2657916	hsa-miR-532-3p	CLIP-seq
MIRT2143964	hsa-miR-568	CLIP-seq
MIRT2364196	hsa-miR-575	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477856	hsa-miR-1292	CLIP-seq
MIRT1477857	hsa-miR-138	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2364183	hsa-miR-300	CLIP-seq
MIRT2657908	hsa-miR-3129-3p	CLIP-seq
MIRT1477861	hsa-miR-3136-5p	CLIP-seq
MIRT2657909	hsa-miR-3145-3p	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2364185	hsa-miR-3157-5p	CLIP-seq
MIRT1477865	hsa-miR-328	CLIP-seq
MIRT1477867	hsa-miR-345	CLIP-seq
MIRT1477868	hsa-miR-361-3p	CLIP-seq
MIRT2657910	hsa-miR-3663-3p	CLIP-seq
MIRT2364187	hsa-miR-3663-5p	CLIP-seq
MIRT2364189	hsa-miR-381	CLIP-seq
MIRT1477869	hsa-miR-383	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT1477873	hsa-miR-4256	CLIP-seq
MIRT2657911	hsa-miR-4286	CLIP-seq
MIRT1477876	hsa-miR-4299	CLIP-seq
MIRT2657912	hsa-miR-4301	CLIP-seq
MIRT2657913	hsa-miR-431	CLIP-seq
MIRT1477877	hsa-miR-4422	CLIP-seq
MIRT1477878	hsa-miR-4436a	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT1477879	hsa-miR-4439	CLIP-seq
MIRT1477880	hsa-miR-4471	CLIP-seq
MIRT2657914	hsa-miR-4509	CLIP-seq
MIRT1477881	hsa-miR-4513	CLIP-seq
MIRT1477883	hsa-miR-4527	CLIP-seq
MIRT1477884	hsa-miR-4646-5p	CLIP-seq
MIRT2364192	hsa-miR-4666-3p	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT2364193	hsa-miR-4676-5p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT1477887	hsa-miR-4717-3p	CLIP-seq
MIRT1477888	hsa-miR-4743	CLIP-seq
MIRT1477889	hsa-miR-4772-5p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT2657915	hsa-miR-503	CLIP-seq
MIRT2657916	hsa-miR-532-3p	CLIP-seq
MIRT2364196	hsa-miR-575	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA	21873635
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16189514, 16710296, 19615732, 25307056, 25416956, 28514442, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0016579	Process	Protein deubiquitination	IBA	21873635
GO:0016579	Process	Protein deubiquitination	TAS
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0050727	Process	Regulation of inflammatory response	IMP	27325888
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	TAS

Other IDs

• MIM: 607057
• HGNC: 12616
• e!Ensembl: ENSG00000184979

Protein

• UniProt ID: Q9UMW8
• Protein name: Ubl carboxyl-terminal hydrolase 18 (EC 3.4.19.12) (43 kDa ISG15-specific protease) (hUBP43) (ISG15-specific-processing protease) (Ubl thioesterase 18)
• Protein function: Interferon-induced ISG15-specific protease that plays a crucial role for maintaining a proper balance of ISG15-conjugated proteins in cells (PubMed:11788588). Regulates protein ISGylation by efficiently cleaving ISG15 conjugates linked via isope
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00443	UCH	55 → 367	Ubiquitin carboxyl-terminal hydrolase	Family

• Sequence:

  MSKAFGLLRQICQSILAESSQSPADLEEKKEEDSNMKREQPRERPRAWDYPHGLVGLHNI
  GQTCCLNSLIQVFVMNVDFTRILKRITVPRGADEQRRSVPFQMLLLLEKMQDSRQKAVRP
  LELAYCLQKCNVPLFVQHDAAQLYLKLWNLIKDQITDVHLVERLQALYTIRVKDSLICVD
  CAMESSRNSSMLTLPLSLFDVDSKPLKTLEDALHCFFQPRELSSKSKCFCENCGKKTRGK
  QVLKLTHLPQTLTIHLMRFSIRNSQTRKICHSLYFPQSLDFSQILPMKRESCDAEEQSGG
  QYELFAVIAHVGMADSGHYCVYIRNAVDGKWFCFNDSNICLVSWEDIQCTYGNPNYHWQE
  TAYLLVYMKMEC

• Sequence length: 372

Pathways

Reactome:

ISG15 antiviral mechanism
Ub-specific processing proteases
Regulation of IFNA signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aicardi goutieres syndrome	AICARDI-GOUTIERES SYNDROME, AICARDI-GOUTIERES SYNDROME 1, Aicardi-Goutieres Syndrome 2	rs78635798, rs75184679, rs74555752, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs72556554, rs78218009, rs74556809, rs78408272, rs78846775, rs121908117, rs76857106, rs387906948, rs138603088, rs398122893, rs398122894, rs398122822, rs398122895, rs398122896, rs398122897, rs398122898, rs397515479, rs75718910, rs397515480, rs77103971, rs149846637, rs74689946, rs77371662, rs74876396, rs78762691, rs76642637, rs78300695, rs79318303, rs369587937, rs515726141, rs369035155, rs515726146, rs768943773, rs587777445, rs587777446, rs587777447, rs587777448, rs672601336, rs587777449, rs587777575, rs587777576, rs376048533, rs786205483, rs200773268, rs760594164, rs748914604, rs184953805, rs777313709, rs753679297, rs367915667, rs1553207540, rs779357448, rs1555257383, rs774964432, rs372632599, rs75186889, rs1452451283, rs1568762986, rs1303667371, rs1575293518, rs768724007, rs1559810905, rs549586181, rs781284373, rs1571046959, rs75325951, rs79310911, rs768409471, rs1219206348, rs1335417539, rs1601144527, rs752442185, rs1593470515, rs77301371, rs1571110158, rs1575295176, rs768019897, rs1601141002, rs1576219706, rs138373022, rs1576222015, rs765887304, rs1238832404, rs774958328, rs1576222803, rs1576222845, rs201472224, rs1576224269, rs753599401, rs1576226604, rs753383954, rs1576226728, rs1576227162, rs1576229572, rs1180888940, rs1331920811, rs769561543, rs2063480012, rs1300333132, rs1442728513, rs1951857498
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	27325888
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	27980214
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Pseudo-torch syndrome	Pseudo-TORCH syndrome, PSEUDO-TORCH SYNDROME 2, USP18 deficiency	rs1561334604, rs749237456, rs267606926, rs797045840, rs863225128, rs1085307118, rs748442113, rs1580554633, rs1602534094	27325888, 27821552, 12833411, 27325888

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia
Leiomyosarcoma	leiomyosarcoma, Leiomyosarcoma, Epithelioid, Leiomyosarcoma, Myxoid		26555296
Lung neoplasms	Lung Neoplasms		27980214
Neuronal heterotopia	Neuronal heterotopia