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GLIS3 (GLIS family zinc finger 3)

Gene

169792

GLIS family zinc finger 3

GLIS3

NDH, ZNF515

9p24.2

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the develo

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114838275	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs148168366	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, intron variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs868197660	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869320723	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs879255608	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879255609	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1586744173	->AG	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all(232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT657782	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT657781	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT657779	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT657780	hsa-miR-3655	HITS-CLIP	23824327
MIRT657778	hsa-miR-3909	HITS-CLIP	23824327
MIRT657777	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT657776	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT657775	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT657774	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT657772	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT657773	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT657771	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT448804	hsa-miR-548az-5p	PAR-CLIP	22100165
MIRT448803	hsa-miR-548t-5p	PAR-CLIP	22100165
MIRT448802	hsa-miR-3609	PAR-CLIP	22100165
MIRT448801	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT448800	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT448799	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT440564	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440564	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT733110	hsa-miR-644a	Immunofluorescence, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	33520363
MIRT657782	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT657781	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT657779	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT657780	hsa-miR-3655	HITS-CLIP	23824327
MIRT657778	hsa-miR-3909	HITS-CLIP	23824327
MIRT657777	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT657776	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT657775	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT657774	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT657772	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT657773	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT657771	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT448804	hsa-miR-548az-5p	PAR-CLIP	22100165
MIRT448803	hsa-miR-548t-5p	PAR-CLIP	22100165
MIRT448802	hsa-miR-3609	PAR-CLIP	22100165
MIRT448801	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT448800	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT448799	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT1021179	hsa-miR-106a	CLIP-seq
MIRT1021180	hsa-miR-106b	CLIP-seq
MIRT1021181	hsa-miR-1245b-3p	CLIP-seq
MIRT1021182	hsa-miR-1273	CLIP-seq
MIRT1021183	hsa-miR-1286	CLIP-seq
MIRT1021184	hsa-miR-1304	CLIP-seq
MIRT1021185	hsa-miR-1324	CLIP-seq
MIRT1021186	hsa-miR-17	CLIP-seq
MIRT1021187	hsa-miR-2054	CLIP-seq
MIRT1021188	hsa-miR-20a	CLIP-seq
MIRT1021189	hsa-miR-20b	CLIP-seq
MIRT1021190	hsa-miR-302a	CLIP-seq
MIRT1021191	hsa-miR-302b	CLIP-seq
MIRT1021192	hsa-miR-302c	CLIP-seq
MIRT1021193	hsa-miR-302d	CLIP-seq
MIRT1021194	hsa-miR-302e	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT1021197	hsa-miR-361-3p	CLIP-seq
MIRT1021198	hsa-miR-3616-3p	CLIP-seq
MIRT1021199	hsa-miR-3677-5p	CLIP-seq
MIRT1021200	hsa-miR-3683	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021202	hsa-miR-372	CLIP-seq
MIRT1021203	hsa-miR-373	CLIP-seq
MIRT1021204	hsa-miR-375	CLIP-seq
MIRT1021205	hsa-miR-380	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021207	hsa-miR-3924	CLIP-seq
MIRT1021208	hsa-miR-3926	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT1021210	hsa-miR-3944-5p	CLIP-seq
MIRT1021211	hsa-miR-4302	CLIP-seq
MIRT1021212	hsa-miR-431	CLIP-seq
MIRT1021213	hsa-miR-4433	CLIP-seq
MIRT1021214	hsa-miR-4436b-5p	CLIP-seq
MIRT1021215	hsa-miR-4446-3p	CLIP-seq
MIRT1021216	hsa-miR-4446-5p	CLIP-seq
MIRT1021217	hsa-miR-4455	CLIP-seq
MIRT1021218	hsa-miR-4475	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT1021220	hsa-miR-4495	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021222	hsa-miR-4653-3p	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT1021224	hsa-miR-4699-5p	CLIP-seq
MIRT1021225	hsa-miR-4709-3p	CLIP-seq
MIRT1021226	hsa-miR-4721	CLIP-seq
MIRT1021227	hsa-miR-4722-5p	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021229	hsa-miR-508-3p	CLIP-seq
MIRT1021230	hsa-miR-511	CLIP-seq
MIRT1021231	hsa-miR-519d	CLIP-seq
MIRT1021232	hsa-miR-520a-3p	CLIP-seq
MIRT1021233	hsa-miR-520b	CLIP-seq
MIRT1021234	hsa-miR-520c-3p	CLIP-seq
MIRT1021235	hsa-miR-520d-3p	CLIP-seq
MIRT1021236	hsa-miR-520e	CLIP-seq
MIRT1021237	hsa-miR-520f	CLIP-seq
MIRT1021238	hsa-miR-520g	CLIP-seq
MIRT1021239	hsa-miR-520h	CLIP-seq
MIRT1021240	hsa-miR-548a-5p	CLIP-seq
MIRT1021241	hsa-miR-548ab	CLIP-seq
MIRT1021242	hsa-miR-548ak	CLIP-seq
MIRT1021243	hsa-miR-548b-5p	CLIP-seq
MIRT1021244	hsa-miR-548c-5p	CLIP-seq
MIRT1021245	hsa-miR-548d-5p	CLIP-seq
MIRT1021246	hsa-miR-548h	CLIP-seq
MIRT1021247	hsa-miR-548i	CLIP-seq
MIRT1021248	hsa-miR-548j	CLIP-seq
MIRT1021249	hsa-miR-548s	CLIP-seq
MIRT1021250	hsa-miR-548w	CLIP-seq
MIRT1021251	hsa-miR-548y	CLIP-seq
MIRT1021252	hsa-miR-555	CLIP-seq
MIRT1021253	hsa-miR-559	CLIP-seq
MIRT1021254	hsa-miR-653	CLIP-seq
MIRT1021255	hsa-miR-93	CLIP-seq
MIRT1021256	hsa-miR-1238	CLIP-seq
MIRT1021181	hsa-miR-1245b-3p	CLIP-seq
MIRT1021182	hsa-miR-1273	CLIP-seq
MIRT1021184	hsa-miR-1304	CLIP-seq
MIRT1021185	hsa-miR-1324	CLIP-seq
MIRT1021257	hsa-miR-181a	CLIP-seq
MIRT1021258	hsa-miR-181b	CLIP-seq
MIRT1021259	hsa-miR-181c	CLIP-seq
MIRT1021260	hsa-miR-181d	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT1021261	hsa-miR-3163	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT1021198	hsa-miR-3616-3p	CLIP-seq
MIRT1021262	hsa-miR-3671	CLIP-seq
MIRT1021200	hsa-miR-3683	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021205	hsa-miR-380	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021207	hsa-miR-3924	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT1021263	hsa-miR-4262	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT1021220	hsa-miR-4495	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021222	hsa-miR-4653-3p	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT1021264	hsa-miR-4691-5p	CLIP-seq
MIRT1021265	hsa-miR-4720-5p	CLIP-seq
MIRT1021226	hsa-miR-4721	CLIP-seq
MIRT1021266	hsa-miR-4769-3p	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021267	hsa-miR-4799-3p	CLIP-seq
MIRT1021268	hsa-miR-548aa	CLIP-seq
MIRT1021252	hsa-miR-555	CLIP-seq
MIRT1021269	hsa-miR-579	CLIP-seq
MIRT1021270	hsa-miR-664	CLIP-seq
MIRT2002576	hsa-miR-1267	CLIP-seq
MIRT2002577	hsa-miR-129-5p	CLIP-seq
MIRT1021190	hsa-miR-302a	CLIP-seq
MIRT1021191	hsa-miR-302b	CLIP-seq
MIRT1021192	hsa-miR-302c	CLIP-seq
MIRT1021193	hsa-miR-302d	CLIP-seq
MIRT1021194	hsa-miR-302e	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021202	hsa-miR-372	CLIP-seq
MIRT1021203	hsa-miR-373	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT2002578	hsa-miR-3977	CLIP-seq
MIRT1021215	hsa-miR-4446-3p	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT2002579	hsa-miR-4506	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT1021226	hsa-miR-4721	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021232	hsa-miR-520a-3p	CLIP-seq
MIRT1021233	hsa-miR-520b	CLIP-seq
MIRT1021234	hsa-miR-520c-3p	CLIP-seq
MIRT1021235	hsa-miR-520d-3p	CLIP-seq
MIRT1021236	hsa-miR-520e	CLIP-seq
MIRT1021237	hsa-miR-520f	CLIP-seq
MIRT2235566	hsa-miR-3199	CLIP-seq
MIRT2235567	hsa-miR-4318	CLIP-seq
MIRT1021214	hsa-miR-4436b-5p	CLIP-seq
MIRT2235568	hsa-miR-4463	CLIP-seq
MIRT1021190	hsa-miR-302a	CLIP-seq
MIRT1021191	hsa-miR-302b	CLIP-seq
MIRT1021192	hsa-miR-302c	CLIP-seq
MIRT1021193	hsa-miR-302d	CLIP-seq
MIRT1021194	hsa-miR-302e	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT2388501	hsa-miR-3145-3p	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT2388502	hsa-miR-323b-3p	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021202	hsa-miR-372	CLIP-seq
MIRT1021203	hsa-miR-373	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT2388503	hsa-miR-4768-5p	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021232	hsa-miR-520a-3p	CLIP-seq
MIRT1021233	hsa-miR-520b	CLIP-seq
MIRT1021234	hsa-miR-520c-3p	CLIP-seq
MIRT1021235	hsa-miR-520d-3p	CLIP-seq
MIRT1021236	hsa-miR-520e	CLIP-seq
MIRT2539431	hsa-miR-29a	CLIP-seq
MIRT2539432	hsa-miR-29b	CLIP-seq
MIRT2539433	hsa-miR-29c	CLIP-seq
MIRT2539434	hsa-miR-3148	CLIP-seq
MIRT2539435	hsa-miR-3189-5p	CLIP-seq
MIRT2539436	hsa-miR-3659	CLIP-seq
MIRT2539437	hsa-miR-3688-3p	CLIP-seq
MIRT2539438	hsa-miR-455-5p	CLIP-seq
MIRT2539439	hsa-miR-4658	CLIP-seq
MIRT2539440	hsa-miR-4668-3p	CLIP-seq
MIRT2539441	hsa-miR-4684-5p	CLIP-seq
MIRT2539442	hsa-miR-4712-5p	CLIP-seq
MIRT2388503	hsa-miR-4768-5p	CLIP-seq
MIRT2539443	hsa-miR-518d-5p	CLIP-seq
MIRT2539444	hsa-miR-519b-5p	CLIP-seq
MIRT2539445	hsa-miR-519c-5p	CLIP-seq
MIRT2539446	hsa-miR-520c-5p	CLIP-seq
MIRT2539447	hsa-miR-526a	CLIP-seq
MIRT2539448	hsa-miR-550a	CLIP-seq
MIRT2539449	hsa-miR-570	CLIP-seq
MIRT2539450	hsa-miR-574-5p	CLIP-seq
MIRT2539451	hsa-miR-576-3p	CLIP-seq
MIRT1021269	hsa-miR-579	CLIP-seq
MIRT2539452	hsa-miR-770-5p	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610192	28510	ENSG00000107249

Protein

UniProt ID

Q8NEA6

Protein name

Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515)

Protein function

Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	413 → 436	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	472 → 496	Zinc finger, C2H2 type	Domain

Sequence

MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLT
ESQSASSMKQEWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFG
TESSHSPYPSPRHSSTRSHSARSKKRALSLSPLSDGIGIDFNTIIRTSPTSLVAYINGSR
ASPANLSPQPEVYGHFLGVRGSCIPQPRPVPGSQKGVLVAPGGLALPAYGEDGALEHERM
QQLEHGGLQPGLVNHMVVQHGLPGPDSQSAGLFKTERLEEFPGSTVDLPPAPPLPPLPPP
PGPPPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWIDCSALYDQQE
ELVRHIEKVHIDQRKGEDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCE
KAFSRLENLKIHLRSHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCT
KRYTDPSSLRKHVKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEG
TVGRSPGPGPDLYSAPIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLP
PLTAVDAGAERFAPSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPETNSS
FQPNGIHVHGFYGQLQKFCPPHYPDSQRIVPPVSSCSVVPSFEDCLVPTSMGQASFDVFH
RAFSTHSGITVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSSVYTEG

Sequence length

775

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	23562540
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	30664745
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	30804561
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670	16715098
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent, Neonatal diabetes mellitus, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	19430480, 25751624, 21980299, 30718926, 28736931, 22158537, 26818947, 22961080, 22885922, 30054458, 24509480, 23300278, 30595370, 28869590, 19430480
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060	16715098
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
Angle closure glaucoma	Angle Closure Glaucoma, Primary angle-closure glaucoma		27064256
Autoimmune diabetes	Diabetes, Autoimmune		19430480
Congenital epicanthus	Congenital Epicanthus
Diabetes mellitus with congenital hypothyroidism	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism		12966531, 16715098
Diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Brittle diabetes mellitus	Brittle diabetes		19430480
Glaucoma, congenital	Hydrophthalmos		16715098
Knee osteoarthritis	Osteoarthritis, Knee		30664745, 29436472
Liver fibrosis	Fibrosis, Liver		16715098
Osteoarthritis of hip	Osteoarthritis of hip		29436472, 30664745
Portal hypertension	Portal Hypertension

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