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

COL11A2 (collagen type XI alpha 2 chain)

Gene

1302

Collagen type XI alpha 2 chain

COL11A2

DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3

6p21.32

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chai

Show/Hide all(46)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41266697	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs41268014	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs113067047	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs121912945	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912946	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912947	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912948	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912949	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121912950	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121912951	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121912952	G>T	Likely-pathogenic, pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs145499142	G>A	Uncertain-significance, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs147576338	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs200523422	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs200947059	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs374156844	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs375268140	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376797260	G>A	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs550153707	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs606231410	C>A,T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs727502939	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs745434198	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs746754428	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs748440351	G>-,GG	Pathogenic-likely-pathogenic, uncertain-significance	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, upstream transcript variant
rs750995470	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs764450149	G>A,C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs768569721	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs786205578	A>G,T	Likely-pathogenic	Synonymous variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs797044915	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs864309477	GCCCCGGGGGGCCTGGGTGACCTCTCT>-	Pathogenic	Genic downstream transcript variant, inframe indel, coding sequence variant
rs864309523	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886044584	CTTCC>T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs911722283	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554218503	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554220864	->C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1554223504	G>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554225999	GG>C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554226209	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1562312539	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562315748	C>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1562336726	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583287711	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1583335192	TTCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583351636	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583366400	->G	Likely-pathogenic	Intron variant, frameshift variant, upstream transcript variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1583394539	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT902436	hsa-miR-3157-5p	CLIP-seq
MIRT902437	hsa-miR-3170	CLIP-seq
MIRT902438	hsa-miR-3173-5p	CLIP-seq
MIRT902439	hsa-miR-4690-3p	CLIP-seq
MIRT902440	hsa-miR-4734	CLIP-seq
MIRT902441	hsa-miR-1912	CLIP-seq
MIRT902438	hsa-miR-3173-5p	CLIP-seq
MIRT902442	hsa-miR-3190	CLIP-seq
MIRT902440	hsa-miR-4734	CLIP-seq
MIRT902443	hsa-miR-7	CLIP-seq
MIRT1967696	hsa-miR-421	CLIP-seq
MIRT1967697	hsa-miR-4686	CLIP-seq
MIRT2203454	hsa-miR-1236	CLIP-seq
MIRT902442	hsa-miR-3190	CLIP-seq
MIRT2203455	hsa-miR-4753-3p	CLIP-seq
MIRT2203456	hsa-miR-4768-5p	CLIP-seq
MIRT902443	hsa-miR-7	CLIP-seq
MIRT2203457	hsa-miR-942	CLIP-seq
MIRT2506461	hsa-miR-1913	CLIP-seq
MIRT2506462	hsa-miR-3176	CLIP-seq
MIRT2506463	hsa-miR-324-3p	CLIP-seq
MIRT2506464	hsa-miR-3616-3p	CLIP-seq
MIRT2506465	hsa-miR-3922-3p	CLIP-seq
MIRT2506466	hsa-miR-4721	CLIP-seq
MIRT2506467	hsa-miR-4763-5p	CLIP-seq
MIRT2506461	hsa-miR-1913	CLIP-seq
MIRT2506462	hsa-miR-3176	CLIP-seq
MIRT2506463	hsa-miR-324-3p	CLIP-seq
MIRT2506464	hsa-miR-3616-3p	CLIP-seq
MIRT2506465	hsa-miR-3922-3p	CLIP-seq
MIRT2506466	hsa-miR-4721	CLIP-seq
MIRT2506467	hsa-miR-4763-5p	CLIP-seq

Transcription factors

Show/Hide all(6)

Transcription factor	Regulation	Reference
HMGA2	Activation	16375854
SOX10	Activation	12783851
SOX9	Activation	12783851
SP1	Activation	16734381
SP3	Activation	16734381
SP7	Activation	16734381

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	10677296
GO:0001501	Process	Skeletal system development	NAS	7859284, 8838804
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17703188
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IBA	21873635
GO:0005592	Component	Collagen type XI trimer	NAS	7859284, 8838804
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007605	Process	Sensory perception of sound	IBA	21873635
GO:0007605	Process	Sensory perception of sound	IMP	9188673, 10581026, 10677296, 16033917
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	NAS	7859284, 8838804
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28675934
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030199	Process	Collagen fibril organization	IBA	21873635
GO:0030199	Process	Collagen fibril organization	IDA	9188673
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10677296
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IBA	21873635
GO:0051216	Process	Cartilage development	IMP	9188673
GO:0060021	Process	Roof of mouth development	IMP	12673280
GO:0060023	Process	Soft palate development	IMP	10677296
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315, 28675934

MIM	HGNC	e!Ensembl
120290	2187	ENSG00000204248

Protein

UniProt ID

P13942

Protein name

Collagen alpha-2(XI) chain

Protein function

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02210	Laminin_G_2	92 → 211	Laminin G domain	Domain
PF01391	Collagen	396 → 450	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	485 → 546	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	528 → 606	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	832 → 900	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1099 → 1156	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1114 → 1175	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1539 → 1621	Fibrillar collagen C-terminal domain	Family
PF01410	COLFI	1616 → 1734	Fibrillar collagen C-terminal domain	Family

Sequence

MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAY
RVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPV
RFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSAR
PVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQ
PHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEE
EILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETEL
GPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQ
ARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRA
GADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPR
GLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLP
GPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPR
GVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPT
GDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKD
GLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTA
GKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGER
GAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVA
GEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAK
GDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPP
GGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKR
GPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRP
GATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSP
GQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEV
IQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRP
TGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT
QFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG

Sequence length

1736

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Protein digestion and absorption		Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Non-integrin membrane-ECM interactions MET activates PTK2 signaling Collagen chain trimerization

Associated diseases

Show/Hide Causal Diseases (17)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Connective tissue disease	Connective Tissue Diseases	rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995, rs730880214, rs794728188, rs863223852, rs745672741, rs763514968, rs1064793914, rs1085307608, rs1131691804, rs1555399144, rs1554787779, rs1555167139, rs1939205327	22246659
Deafness	Deafness, Autosomal Recessive 53, Deafness, Autosomal Dominant 13	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, 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, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	14234962, 25633957, 9805126, 16033917, 15372529, 9805126, 10581026, 14234962
Developmental delay	Gross motor development 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
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Fibrochondrogenesis	Fibrochondrogenesis, FIBROCHONDROGENESIS 2	rs730882190, rs387906611, rs1557812993, rs2147483647, rs1570877567, rs1583335192	22246659, 22246659, 9805126
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder), Sensory 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	16637051
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	2760050, 9805126, 10581026, 10486316, 7859284, 813535, 9188673, 9506662, 21671392, 22246659, 10353778, 10677296, 10733181, 8838804, 16637051, 16033917, 2463256
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	10581026, 25633957, 19486694, 26445815, 16033917, 15141750
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal dysplasia, Autosomal dominant otospondylomegaepiphyseal dysplasia	rs750995470, rs121912945, rs864309477, rs121912946, rs121912949, rs121912950, rs121912951, rs1562315748, rs886044584, rs1554220864, rs1565683138, rs1583287711, rs1481453913, rs1045330263, rs1583351636, rs1583394539, rs1583335192	22796475, 16637051, 21438135, 15558753, 10677296, 15141750, 15372529, 11668593, 21208667, 7859284, 9805126, 25780254, 14234962, 22246659, 9506662, 19486694, 15922184, 21204229
Pierre-robin syndrome	Pierre Robin Syndrome, Pierre Robin syndrome with fetal chondrodysplasia	rs1057519389, rs1057518986	15372529, 9506662, 10677296, 21208667, 21204229, 11668593, 14234962, 7859284, 25780254, 15922184, 16637051, 9805126, 19486694, 15141750, 22246659, 15558753, 22796475
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	17804836, 19503088
Stickler syndrome	Stickler syndrome, type 3	rs121912943, rs121912931, rs121912866, rs2136528572, rs121912869, rs121912870, rs121912872, rs121912873, rs121912876, rs794727377, rs2136508504, rs2136577259, rs121912882, rs1057524696, rs121912884, rs121912885, rs2136637244, rs121912893, rs1592232116, rs1592196064, rs121912896, rs121912897, rs121912898, rs80356554, rs606231376, rs398122828, rs189754995, rs672601354, rs672601355, rs748459670, rs886041713, rs886043356, rs886043410, rs886044244, rs1057517989, rs1057524114, rs72667036, rs1085307608, rs1131691822, rs1555165494, rs1553404310, rs1555166555, rs1553193910, rs1553223152, rs1555168965, rs1555164735, rs1555165204, rs1555166218, rs1555166295, rs1555166658, rs1025202963, rs1555168309, rs1246771678, rs866783525, rs201035486, rs1565679039, rs1557847904, rs1557877041, rs1557932876, rs1592233968, rs1592196744, rs1592217071, rs1592235241, rs1592202517, rs753342774, rs1592205758, rs1592206729, rs1269619781, rs1592196867, rs1592218346, rs1399676515, rs1939312423	15372529
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (26)

Unknown
Disease name	Disease term	dbSNP ID	References
Cartilage diseases	Cartilage Diseases		11668593
Chondromalacia	Chondromalacia		11668593
Congenital anomaly of limb	Limb Deformities, Congenital		16637051
Short femur	Congenital hypoplasia of femur
Congenital omphalocele	Congenital omphalocele
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	21347282
Disorder of eye	Disorder of eye
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		8838804, 9506662, 2760050, 22246659, 10677296, 10486316, 9805126, 21671392, 2463256, 7859284, 10353778, 16033917, 10581026, 16637051, 9188673, 813535, 10733181
Glossoptosis	Glossoptosis
Neurosensory hearing impairment	Mild neurosensory hearing impairment
Hodgkin disease	Hodgkin Disease		24149102
Megaepiphyseal dwarfism	Megaepiphyseal dwarfism		16637051
Micrognathism	Micrognathism
Micromelia	Micromelia
Microstomia	Microstomia
Non-syndromic sensorineural deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA, Autosomal recessive non-syndromic sensorineural deafness type DFNB
Plagiocephaly	Plagiocephaly
Premature osteoarthritis	Premature osteoarthritis
Proptosis	Exophthalmos
Rhizomelia	Rhizomelia
Strabismus	Strabismus
Submucous cleft of soft and hard palate	Submucous cleft soft palate
Thoracic hypoplasia	Thoracic hypoplasia

| © 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