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

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CDH11 (cadherin 11)

Gene

1009

Cadherin 11

CDH11

CAD11, CDHOB, ESWS, OB, OSF-4, TBHS2

16q21

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555514463	AG>CTGATGATC	Pathogenic	Frameshift variant, coding sequence variant
rs1555515331	C>A	Pathogenic	Splice donor variant
rs1555515924	G>C	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(215)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018564	hsa-miR-335-5p	Microarray	18185580
MIRT022977	hsa-miR-124-3p	Microarray	18668037
MIRT054102	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, QRTPCR	23497265
MIRT732299	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26706910
MIRT732299	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26706910
MIRT735017	hsa-miR-181a-5p	qRT-PCR	33102604
MIRT736395	hsa-miR-127-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33574696
MIRT879295	hsa-miR-101	CLIP-seq
MIRT879296	hsa-miR-1206	CLIP-seq
MIRT879297	hsa-miR-127-5p	CLIP-seq
MIRT879298	hsa-miR-1279	CLIP-seq
MIRT879299	hsa-miR-128	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT879301	hsa-miR-151-3p	CLIP-seq
MIRT879302	hsa-miR-200b	CLIP-seq
MIRT879303	hsa-miR-200c	CLIP-seq
MIRT879304	hsa-miR-204	CLIP-seq
MIRT879305	hsa-miR-205	CLIP-seq
MIRT879306	hsa-miR-211	CLIP-seq
MIRT879307	hsa-miR-2113	CLIP-seq
MIRT879308	hsa-miR-223	CLIP-seq
MIRT879309	hsa-miR-27a	CLIP-seq
MIRT879310	hsa-miR-27b	CLIP-seq
MIRT879311	hsa-miR-3141	CLIP-seq
MIRT879312	hsa-miR-3143	CLIP-seq
MIRT879313	hsa-miR-3145-3p	CLIP-seq
MIRT879314	hsa-miR-3152-5p	CLIP-seq
MIRT879315	hsa-miR-3161	CLIP-seq
MIRT879316	hsa-miR-3163	CLIP-seq
MIRT879317	hsa-miR-3662	CLIP-seq
MIRT879318	hsa-miR-376c	CLIP-seq
MIRT879319	hsa-miR-4277	CLIP-seq
MIRT879320	hsa-miR-4279	CLIP-seq
MIRT879321	hsa-miR-4289	CLIP-seq
MIRT879322	hsa-miR-429	CLIP-seq
MIRT879323	hsa-miR-4420	CLIP-seq
MIRT879324	hsa-miR-4422	CLIP-seq
MIRT879325	hsa-miR-4446-5p	CLIP-seq
MIRT879326	hsa-miR-4666-5p	CLIP-seq
MIRT879327	hsa-miR-4678	CLIP-seq
MIRT879328	hsa-miR-4697-3p	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT879330	hsa-miR-4709-5p	CLIP-seq
MIRT879331	hsa-miR-4755-5p	CLIP-seq
MIRT879332	hsa-miR-4774-3p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT879334	hsa-miR-513a-5p	CLIP-seq
MIRT879335	hsa-miR-539	CLIP-seq
MIRT879336	hsa-miR-543	CLIP-seq
MIRT879337	hsa-miR-548c-3p	CLIP-seq
MIRT879338	hsa-miR-548m	CLIP-seq
MIRT879339	hsa-miR-595	CLIP-seq
MIRT879340	hsa-miR-600	CLIP-seq
MIRT879341	hsa-miR-623	CLIP-seq
MIRT879342	hsa-miR-758	CLIP-seq
MIRT879295	hsa-miR-101	CLIP-seq
MIRT879296	hsa-miR-1206	CLIP-seq
MIRT879299	hsa-miR-128	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT879309	hsa-miR-27a	CLIP-seq
MIRT879310	hsa-miR-27b	CLIP-seq
MIRT1546367	hsa-miR-2964a-5p	CLIP-seq
MIRT879312	hsa-miR-3143	CLIP-seq
MIRT879316	hsa-miR-3163	CLIP-seq
MIRT1546368	hsa-miR-3183	CLIP-seq
MIRT1546369	hsa-miR-3607-3p	CLIP-seq
MIRT1546370	hsa-miR-3686	CLIP-seq
MIRT1546371	hsa-miR-3713	CLIP-seq
MIRT1546372	hsa-miR-3909	CLIP-seq
MIRT1546373	hsa-miR-4328	CLIP-seq
MIRT1546374	hsa-miR-4477a	CLIP-seq
MIRT879327	hsa-miR-4678	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT879330	hsa-miR-4709-5p	CLIP-seq
MIRT1546375	hsa-miR-4723-3p	CLIP-seq
MIRT879334	hsa-miR-513a-5p	CLIP-seq
MIRT879336	hsa-miR-543	CLIP-seq
MIRT879338	hsa-miR-548m	CLIP-seq
MIRT879339	hsa-miR-595	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT879313	hsa-miR-3145-3p	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT879319	hsa-miR-4277	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT1960648	hsa-miR-548p	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT879302	hsa-miR-200b	CLIP-seq
MIRT879303	hsa-miR-200c	CLIP-seq
MIRT879322	hsa-miR-429	CLIP-seq
MIRT879323	hsa-miR-4420	CLIP-seq
MIRT879326	hsa-miR-4666-5p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT879340	hsa-miR-600	CLIP-seq
MIRT879296	hsa-miR-1206	CLIP-seq
MIRT879299	hsa-miR-128	CLIP-seq
MIRT2427228	hsa-miR-1297	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT2427229	hsa-miR-198	CLIP-seq
MIRT879302	hsa-miR-200b	CLIP-seq
MIRT879303	hsa-miR-200c	CLIP-seq
MIRT879307	hsa-miR-2113	CLIP-seq
MIRT2427230	hsa-miR-214	CLIP-seq
MIRT2427231	hsa-miR-2355-3p	CLIP-seq
MIRT2427232	hsa-miR-26a	CLIP-seq
MIRT2427233	hsa-miR-26b	CLIP-seq
MIRT879309	hsa-miR-27a	CLIP-seq
MIRT879310	hsa-miR-27b	CLIP-seq
MIRT1546367	hsa-miR-2964a-5p	CLIP-seq
MIRT879312	hsa-miR-3143	CLIP-seq
MIRT879316	hsa-miR-3163	CLIP-seq
MIRT2427234	hsa-miR-3619-5p	CLIP-seq
MIRT1546372	hsa-miR-3909	CLIP-seq
MIRT2427235	hsa-miR-3976	CLIP-seq
MIRT2427236	hsa-miR-4263	CLIP-seq
MIRT879319	hsa-miR-4277	CLIP-seq
MIRT879322	hsa-miR-429	CLIP-seq
MIRT2427237	hsa-miR-4291	CLIP-seq
MIRT1546373	hsa-miR-4328	CLIP-seq
MIRT2427238	hsa-miR-4427	CLIP-seq
MIRT2427239	hsa-miR-4465	CLIP-seq
MIRT1546374	hsa-miR-4477a	CLIP-seq
MIRT2427240	hsa-miR-4477b	CLIP-seq
MIRT879326	hsa-miR-4666-5p	CLIP-seq
MIRT879327	hsa-miR-4678	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT2427241	hsa-miR-4735-5p	CLIP-seq
MIRT2427242	hsa-miR-4775	CLIP-seq
MIRT2427243	hsa-miR-498	CLIP-seq
MIRT879334	hsa-miR-513a-5p	CLIP-seq
MIRT2427244	hsa-miR-520a-5p	CLIP-seq
MIRT2427245	hsa-miR-524-3p	CLIP-seq
MIRT2427246	hsa-miR-525-3p	CLIP-seq
MIRT2427247	hsa-miR-525-5p	CLIP-seq
MIRT879335	hsa-miR-539	CLIP-seq
MIRT879336	hsa-miR-543	CLIP-seq
MIRT879337	hsa-miR-548c-3p	CLIP-seq
MIRT879338	hsa-miR-548m	CLIP-seq
MIRT2427248	hsa-miR-576-5p	CLIP-seq
MIRT2427249	hsa-miR-590-3p	CLIP-seq
MIRT879339	hsa-miR-595	CLIP-seq
MIRT879340	hsa-miR-600	CLIP-seq
MIRT2427250	hsa-miR-656	CLIP-seq
MIRT2427251	hsa-miR-676	CLIP-seq
MIRT879342	hsa-miR-758	CLIP-seq
MIRT2427252	hsa-miR-761	CLIP-seq
MIRT2427253	hsa-miR-802	CLIP-seq
MIRT2427254	hsa-miR-922	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT2427228	hsa-miR-1297	CLIP-seq
MIRT2427232	hsa-miR-26a	CLIP-seq
MIRT2427233	hsa-miR-26b	CLIP-seq
MIRT2427239	hsa-miR-4465	CLIP-seq
MIRT2427243	hsa-miR-498	CLIP-seq
MIRT879337	hsa-miR-548c-3p	CLIP-seq
MIRT2427230	hsa-miR-214	CLIP-seq
MIRT2500587	hsa-miR-297	CLIP-seq
MIRT2500588	hsa-miR-3064-5p	CLIP-seq
MIRT2500589	hsa-miR-3115	CLIP-seq
MIRT2500590	hsa-miR-3126-3p	CLIP-seq
MIRT2500591	hsa-miR-3128	CLIP-seq
MIRT2500592	hsa-miR-3149	CLIP-seq
MIRT2500593	hsa-miR-320e	CLIP-seq
MIRT2500594	hsa-miR-335	CLIP-seq
MIRT2427234	hsa-miR-3619-5p	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT2427237	hsa-miR-4291	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT2427238	hsa-miR-4427	CLIP-seq
MIRT2500595	hsa-miR-4503	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT2500596	hsa-miR-4720-5p	CLIP-seq
MIRT2500597	hsa-miR-4799-3p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT1960648	hsa-miR-548p	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT2500598	hsa-miR-629	CLIP-seq
MIRT2427250	hsa-miR-656	CLIP-seq
MIRT2427252	hsa-miR-761	CLIP-seq
MIRT2427253	hsa-miR-802	CLIP-seq
MIRT2427254	hsa-miR-922	CLIP-seq
MIRT2427230	hsa-miR-214	CLIP-seq
MIRT2500587	hsa-miR-297	CLIP-seq
MIRT2500588	hsa-miR-3064-5p	CLIP-seq
MIRT2500589	hsa-miR-3115	CLIP-seq
MIRT2500590	hsa-miR-3126-3p	CLIP-seq
MIRT2500591	hsa-miR-3128	CLIP-seq
MIRT2500592	hsa-miR-3149	CLIP-seq
MIRT2500593	hsa-miR-320e	CLIP-seq
MIRT2500594	hsa-miR-335	CLIP-seq
MIRT2427234	hsa-miR-3619-5p	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT2427237	hsa-miR-4291	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT2427238	hsa-miR-4427	CLIP-seq
MIRT2500595	hsa-miR-4503	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT2500596	hsa-miR-4720-5p	CLIP-seq
MIRT2500597	hsa-miR-4799-3p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT1960648	hsa-miR-548p	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT2500598	hsa-miR-629	CLIP-seq
MIRT2427252	hsa-miR-761	CLIP-seq
MIRT2427253	hsa-miR-802	CLIP-seq
MIRT2427254	hsa-miR-922	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
AR	Unknown	20191612

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA	21873635
GO:0001501	Process	Skeletal system development	TAS	8163513
GO:0001503	Process	Ossification	NAS	8163513
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0007043	Process	Cell-cell junction assembly	IBA	21873635
GO:0007155	Process	Cell adhesion	TAS	8163513
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	21873635
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0021957	Process	Corticospinal tract morphogenesis	IEA
GO:0034332	Process	Adherens junction organization	IBA	21873635
GO:0034332	Process	Adherens junction organization	TAS
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
600023	1750	ENSG00000140937

Protein

UniProt ID

P55287

Protein name

Cadherin-11 (OSF-4) (Osteoblast cadherin) (OB-cadherin)

Protein function

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	59 → 150	Cadherin domain	Domain
PF00028	Cadherin	164 → 259	Cadherin domain	Domain
PF00028	Cadherin	273 → 375	Cadherin domain	Domain
PF00028	Cadherin	388 → 479	Cadherin domain	Domain
PF01049	Cadherin_C	641 → 789	Cadherin cytoplasmic region	Family

Sequence

MKENYCLQAALVCLGMLCHSHAFAPERRGHLRPSFHGHHEKGKEGQVLQRSKRGWVWNQF
FVIEEYTGPDPVLVGRLHSDIDSGDGNIKYILSGEGAGTIFVIDDKSGNIHATKTLDREE
RAQYTLMAQAVDRDTNRPLEPPSEFIVKVQDINDNPPEFLHETYHANVPERSNVGTSVIQ
VTASDADDPTYGNSAKLVYSILEGQPYFSVEAQTGIIRTALPNMDREAKEEYHVVIQAKD
MGGHMGGLSGTTKVTITLTDVNDNPPKFPQSVYQMSVSEAAVPGEEVGRVKAKDPDIGEN
GLVTYNIVDGDGMESFEITTDYETQEGVIKLKKPVDFETKRAYSLKVEAANVHIDPKFIS
NGPFKDTVTVKISVEDADEPPMFLAPSYIHEVQENAAAGTVVGRVHAKDPDAANSPIRYS
IDRHTDLDRFFTINPEDGFIKTTKPLDREETAWLNITVFAAEIHNRHQEAKVPVAIRVLD
VNDNAPKFAAPYEGFICESDQTKPLSNQPIVTISADDKDDTANGPRFIFSLPPEIIHNPN
FTVRDNRDNTAGVYARRGGFSRQKQDLYLLPIVISDGGIPPMSSTNTLTIKVCGCDVNGA
LLSCNAEAYILNAGLSTGALIAILACIVILLVIVVLFVTLRRQKKEPLIVFEEEDVRENI
ITYDDEGGGEEDTEAFDIATLQNPDGINGFIPRKDIKPEYQYMPRPGLRPAPNSVDVDDF
INTRIQEADNDPTAPPYDSIQIYGYEGRGSVAGSLSSLESATTDSDLDYDYLQNWGPRFK
KLADLYGSKDTFDDDS

Sequence length

796

Interactions

View interactions

	Reactome
			Adherens junctions interactions

Associated diseases

Show/Hide Causal Diseases (7)

Causal
Disease name	Disease term	dbSNP ID	References
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	30940143
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Hearing loss	Hearing Loss, Mixed Conductive-Sensorineural	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
Mental retardation	Moderate intellectual disability, 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
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

Show/Hide Unknown Diseases (23)

Unknown
Disease name	Disease term	dbSNP ID	References
Amelia	Amelia involving the lower limbs
Bladder exstrophy	Bladder Exstrophy	rs760064852, rs751444145
Blepharochalasis	Blepharochalasis
Brachioskeletogenital syndrome	Branchio-skeleto-genital syndrome		29271567, 28988429
Brachycephaly	Brachycephaly
Branchioskeletogenital syndrome	Branchioskeletogenital syndrome
Congenital absent nipple	Congenital absent nipple
Congenital exomphalos	Congenital exomphalos
Congenital keratoglobus	Congenital keratoglobus
Congenital pectus excavatum	Congenital pectus excavatum
Dentin dysplasia	Dentin dysplasia, type 1
Exodeviation	Exodeviation
High palate	Byzanthine arch palate
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Hypospadias	Hypospadias, penoscrotal
Malocclusion	Class III malocclusion
Penis agenesis	Penis agenesis
Posteriorly rotated ear	Posteriorly rotated ear
Proptosis	Exophthalmos
Strabismus	Strabismus
Submucosal cleft palate	Submucous cleft of hard palate
Synophrys	Synophrys
Upper limb peromelia	Upper limb peromelia

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