GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

SMO (smoothened, frizzled class receptor)

Gene

6608

Smoothened, frizzled class receptor

SMO

CRJS, FZD11, Gx, PHLS, SMOH

7q32.1

The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein comp

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17710891	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121918347	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918348	G>A	Pathogenic	Missense variant, coding sequence variant
rs879255280	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000527	hsa-miR-324-5p	Review, Luciferase reporter assay, Western blot	20216554
MIRT000526	hsa-miR-326	Review, Luciferase reporter assay, Western blot	20216554
MIRT000525	hsa-miR-125b-5p	Review, Luciferase reporter assay, Western blot	20216554
MIRT000527	hsa-miR-324-5p	Luciferase reporter assay, Western blot	18756266
MIRT000526	hsa-miR-326	Luciferase reporter assay, Western blot	18756266
MIRT000525	hsa-miR-125b-5p	Luciferase reporter assay, Western blot	18756266
MIRT006455	hsa-miR-338-3p	Luciferase reporter assay, qRT-PCR, Western blot	21671467
MIRT006455	hsa-miR-338-3p	Luciferase reporter assay, qRT-PCR, Western blot	21671467
MIRT006455	hsa-miR-338-3p	Luciferase reporter assay, qRT-PCR, Western blot	21671467
MIRT006455	hsa-miR-338-3p	Luciferase reporter assay, qRT-PCR, Western blot	21671467
MIRT000526	hsa-miR-326	Western blot	23341351
MIRT000526	hsa-miR-326	Western blot	23341351
MIRT006455	hsa-miR-338-3p	Western blot;qRT-PCR	21671467
MIRT043390	hsa-miR-331-3p	CLASH	23622248
MIRT006455	hsa-miR-338-3p	Western blot	23599646
MIRT000526	hsa-miR-326	Immunofluorescence, qRT-PCR, Luciferase reporter assay, Western blot	25173582
MIRT000526	hsa-miR-326	Immunofluorescence, qRT-PCR, Luciferase reporter assay, Western blot	25173582
MIRT000526	hsa-miR-326	Immunofluorescence, qRT-PCR, Luciferase reporter assay, Western blot	25173582
MIRT000526	hsa-miR-326	Immunofluorescence, qRT-PCR, Luciferase reporter assay, Western blot	25173582
MIRT731771	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	26261515
MIRT731771	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	26261515
MIRT731968	hsa-miR-20a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27543062
MIRT731968	hsa-miR-20a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27543062
MIRT737238	hsa-miR-370-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32945196
MIRT1373727	hsa-miR-3929	CLIP-seq
MIRT1373728	hsa-miR-4292	CLIP-seq
MIRT1373729	hsa-miR-4308	CLIP-seq
MIRT1373730	hsa-miR-4419b	CLIP-seq
MIRT1373731	hsa-miR-4478	CLIP-seq
MIRT1373732	hsa-miR-4701-5p	CLIP-seq
MIRT1373733	hsa-miR-588	CLIP-seq
MIRT1373734	hsa-miR-645	CLIP-seq
MIRT1373727	hsa-miR-3929	CLIP-seq
MIRT1373728	hsa-miR-4292	CLIP-seq
MIRT1373729	hsa-miR-4308	CLIP-seq
MIRT1373730	hsa-miR-4419b	CLIP-seq
MIRT1373731	hsa-miR-4478	CLIP-seq
MIRT1373734	hsa-miR-645	CLIP-seq
MIRT2334398	hsa-miR-103a	CLIP-seq
MIRT2334399	hsa-miR-107	CLIP-seq
MIRT2334400	hsa-miR-125a-5p	CLIP-seq
MIRT2334401	hsa-miR-125b	CLIP-seq
MIRT2334402	hsa-miR-1270	CLIP-seq
MIRT2334403	hsa-miR-1273f	CLIP-seq
MIRT2334404	hsa-miR-1913	CLIP-seq
MIRT2334405	hsa-miR-1914	CLIP-seq
MIRT2334406	hsa-miR-3074-5p	CLIP-seq
MIRT2334407	hsa-miR-3189-5p	CLIP-seq
MIRT2334408	hsa-miR-324-3p	CLIP-seq
MIRT2334409	hsa-miR-3659	CLIP-seq
MIRT2334410	hsa-miR-3670	CLIP-seq
MIRT2334411	hsa-miR-3944-5p	CLIP-seq
MIRT2334412	hsa-miR-423-3p	CLIP-seq
MIRT2334413	hsa-miR-4319	CLIP-seq
MIRT2334414	hsa-miR-4658	CLIP-seq
MIRT2334415	hsa-miR-4683	CLIP-seq
MIRT2334416	hsa-miR-4690-3p	CLIP-seq
MIRT2334417	hsa-miR-4710	CLIP-seq
MIRT2334418	hsa-miR-4722-3p	CLIP-seq
MIRT2334419	hsa-miR-4725-5p	CLIP-seq
MIRT2334420	hsa-miR-4728-5p	CLIP-seq
MIRT2334421	hsa-miR-4758-3p	CLIP-seq
MIRT2334422	hsa-miR-503	CLIP-seq
MIRT2334423	hsa-miR-504	CLIP-seq
MIRT2334424	hsa-miR-574-5p	CLIP-seq
MIRT2334425	hsa-miR-620	CLIP-seq
MIRT2334426	hsa-miR-646	CLIP-seq
MIRT2334427	hsa-miR-877	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
GLI3	Activation	15072830

Show/Hide all(86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001708	Process	Cell fate specification	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0003323	Process	Type B pancreatic cell development	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005113	Function	Patched binding	IBA	21873635
GO:0005113	Function	Patched binding	IPI	9811851
GO:0005515	Function	Protein binding	IPI	19592253, 21659505
GO:0005794	Component	Golgi apparatus	IDA	11278759
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19304771
GO:0005901	Component	Caveola	IDA	11278759
GO:0005929	Component	Cilium	IBA	21873635
GO:0005929	Component	Cilium	IDA	27727273
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	TAS	21931618
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IEP	17850284
GO:0007224	Process	Smoothened signaling pathway	IMP	9422511, 19304771, 21177415
GO:0007228	Process	Positive regulation of hh target transcription factor activity	ISS
GO:0007371	Process	Ventral midline determination	ISS
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0007494	Process	Midgut development	ISS
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	21671467
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021696	Process	Cerebellar cortex morphogenesis	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021910	Process	Smoothened signaling pathway involved in ventral spinal cord patterning	IEA
GO:0021938	Process	Smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	21671467
GO:0030425	Component	Dendrite	IBA	21873635
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	11278759
GO:0043392	Process	Negative regulation of DNA binding	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0048143	Process	Astrocyte activation	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0048853	Process	Forebrain morphogenesis	ISS
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051451	Process	Myoblast migration	IEA
GO:0051799	Process	Negative regulation of hair follicle development	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0060242	Process	Contact inhibition	IMP	9422511
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	IEA
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IEA
GO:0061053	Process	Somite development	ISS
GO:0061113	Process	Pancreas morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070986	Process	Left/right axis specification	IEA
GO:0071397	Process	Cellular response to cholesterol	ISS
GO:0071679	Process	Commissural neuron axon guidance	IBA	21873635
GO:0072285	Process	Mesenchymal to epithelial transition involved in metanephric renal vesicle formation	ISS
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0097542	Component	Ciliary tip	TAS
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:2000036	Process	Regulation of stem cell population maintenance	IEA
GO:2000826	Process	Regulation of heart morphogenesis	ISS

MIM	HGNC	e!Ensembl
601500	11119	ENSG00000128602

Protein

UniProt ID

Q99835

Protein name

Protein smoothened (Protein Gx)

Protein function

G protein-coupled receptor which associates with the patched protein (PTCH) to transduce hedgehog protein signaling. Binding of sonic hedgehog (SHH) to its receptor patched prevents inhibition of smoothened (SMO) by patched. When active, SMO bin

PDB

4JKV , 4N4W , 4O9R , 4QIM , 4QIN , 5L7D , 5L7I , 5V56 , 5V57 , 6OT0 , 6XBJ , 6XBK , 6XBL , 6XBM , 7ZI0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01392	Fz	70 → 179	Fz domain	Domain
PF01534	Frizzled	221 → 552	Frizzled/Smoothened family membrane region	Family

Sequence

MAAARPARGPELPLLGLLLLLLLGDPGRGAASSGNATGPGPRSAGGSARRSAAVTGPPPP
LSHCGRAAPCEPLRYNVCLGSVLPYGATSTLLAGDSDSQEEAHGKLVLWSGLRNAPRCWA
VIQPLLCAVYMPKCENDRVELPSRTLCQATRGPCAIVERERGWPDFLRCTPDRFPEGCTN
EVQNIKFNSSGQCEVPLVRTDNPKSWYEDVEGCGIQCQNPLFTEAEHQDMHSYIAAFGAV
TGLCTLFTLATFVADWRNSNRYPAVILFYVNACFFVGSIGWLAQFMDGARREIVCRADGT
MRLGEPTSNETLSCVIIFVIVYYALMAGVVWFVVLTYAWHTSFKALGTTYQPLSGKTSYF
HLLTWSLPFVLTVAILAVAQVDGDSVSGICFVGYKNYRYRAGFVLAPIGLVLIVGGYFLI
RGVMTLFSIKSNHPGLLSEKAASKINETMLRLGIFGFLAFGFVLITFSCHFYDFFNQAEW
ERSFRDYVLCQANVTIGLPTKQPIPDCEIKNRPSLLVEKINLFAMFGTGIAMSTWVWTKA
TLLIWRRTWCRLTGQSDDEPKRIKKSKMIAKAFSKRHELLQNPGQELSFSMHTVSHDGPV
AGLAFDLNEPSADVSSAWAQHVTKMVARRGAILPQDISVTPVATPVPPEEQANLWLVEAE
ISPELQKRLGRKKKRRKRKKEVCPLAPPPELHPPAPAPSTIPRLPQLPRQKCLVAAGAWG
AGDSCRQGAWTLVSNPFCPEPSPPQDPFLPSAPAPVAWAHGRRQGLGPIHSRTNLMDTEL
MDADSDF

Sequence length

787

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Axon guidance Pathways in cancer Proteoglycans in cancer Basal cell carcinoma		Hedgehog 'off' state BBSome-mediated cargo-targeting to cilium Hedgehog 'on' state Activation of SMO

Associated diseases

Show/Hide Causal Diseases (14)

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Carcinoma	Basal cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	22679179, 9581815, 26950094, 25759020, 19726788
Carcinoma, somatic	BASAL CELL CARCINOMA, SOMATIC	rs587776628, rs121918347, rs121918348, rs587776689, rs137853214, rs137853215, rs137853216
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Curry-jones syndrome	Winter Shortland Temple syndrome, Curry-Jones syndrome	rs879255280	27236920, 24859340
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
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Medulloblastoma	Medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	22679179, 19726788
Meningioma	Meningioma, Meningiomas, Multiple, Clear Cell Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs397509406, rs397509407, rs397509408, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907	23334667
Mental retardation	Intellectual Disability	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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Polydactyly	Polydactyly, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	27236920
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Show/Hide Unknown Diseases (51)

Unknown
Disease name	Disease term	dbSNP ID	References
Ameloblastoma	Ameloblastoma		24859340
Angioblastic meningioma	Angioblastic Meningioma		23334667
Angiomatous meningioma	Angiomatous Meningioma		23334667
Benign meningioma	Benign Meningioma		23334667
Blepharophimosis	Blepharophimosis
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain	rs1800720, rs587781720	9581815
Intracranial neoplasm	Neoplasms, Intracranial		9581815
Cerebral convexity meningioma	Cerebral Convexity Meningioma		23334667
Cerebral primitive neuroectodermal tumor	Cerebral Primitive Neuroectodermal Tumor		9581815
Coloboma of optic disc	Coloboma of optic disc
Congenital coloboma of iris	Congenital coloboma of iris
Congenital dermal melanocytosis	Congenital dermal melanocytosis
Congenital malrotation of intestine	Congenital malrotation of intestine
Ependymoblastoma	Ependymoblastoma		9581815
Fibrous meningioma	Fibrous Meningioma		23334667
Fossa meningioma	Posterior Fossa Meningioma		23334667
Hamartoma	Hamartoma	rs140172891, rs143083812, rs34545616, rs587778688, rs2228617
Hemangioblastic meningioma	Hemangioblastic Meningioma		23334667
Hemangiopericytic meningioma	Hemangiopericytic Meningioma		23334667
Hypertrichosis	Hypertrichosis
Hypopigmentation disorder	Hypopigmentation disorder
Intracranial meningioma	Intracranial Meningioma		23334667
Intraorbital meningioma	Intraorbital Meningioma		23334667
Intraventricular meningioma	Intraventricular Meningioma		23334667
Jaw abnormalities	Jaw Abnormalities		16580747
Malignant meningioma	Malignant Meningioma		23334667
Maxillary neoplasms	Maxillary Neoplasms		24859340
Medulloepithelioma	Medulloepithelioma		9581815
Meningothelial meningioma	Meningothelial meningioma		23334667
Microcystic meningioma	Microcystic meningioma	rs779101828	23334667
Neuroectodermal tumors	Neuroectodermal Tumor, Primitive		9581815
Olfactory groove meningioma	Olfactory Groove Meningioma		23334667
Osteoarthritis of hip	Osteoarthritis of hip		30374069
Papillary meningioma	Papillary Meningioma		23334667
Papilloma	Papilloma
Parasagittal meningioma	Parasagittal Meningioma		23334667
Polydactyly of toes	Polydactyly of toes
Promyelocytic leukemia	Acute Promyelocytic Leukemia		23867347
Psammomatous meningioma	Psammomatous Meningioma		23334667
Radial polydactyly	Radial polydactyly		27236920
Secretory meningioma	Secretory meningioma		23334667
Skin cancer	Malignant neoplasm of skin		9581815
Skin neoplasms	Skin Neoplasms		9581815
Sphenoid wing meningioma	Sphenoid Wing Meningioma		23334667
Spinal meningioma	Spinal Meningioma		23334667
Spongioblastoma	Spongioblastoma		9581815
Subfertility	Subfertility, Female		28560483
Syndactyly of fingers	Syndactyly of fingers, Cutaneous finger syndactyly
Syndactyly of the toes	Syndactyly of the toes
Transitional meningioma	Transitional Meningioma		23334667
Xanthomatous meningioma	Xanthomatous Meningioma		23334667

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412