COL9A1 (collagen type IX alpha 1 chain)

Gene

• Entrez ID: 1297
• Gene name: Collagen type IX alpha 1 chain
• Gene symbol: COL9A1
• Synonyms: DJ149L1.1.2, EDM6, MED, STL4
• Chromosome: 6
• Chromosome location: 6q13
• Summary: This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912931	G>A	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs143848379	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant
rs146700420	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs149830493	A>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs189754995	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant
rs201035486	G>A,C,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, missense variant, genic downstream transcript variant
rs202232444	C>G	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs374843706	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs672601329	->A	Uncertain-significance, pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs745532481	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs868122313	A>T	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1057519130	A>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1064797325	->C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1322800124	G>-,GG	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1554248926	A>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1562305261	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT495748	hsa-miR-1324	PAR-CLIP	22291592
MIRT495747	hsa-miR-3166	PAR-CLIP	22291592
MIRT495746	hsa-miR-4771	PAR-CLIP	22291592
MIRT495745	hsa-miR-1273h-3p	PAR-CLIP	22291592
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT610835	hsa-miR-8485	HITS-CLIP	27418678
MIRT610835	hsa-miR-8485	HITS-CLIP	27418678
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610835	hsa-miR-8485	HITS-CLIP	23824327
MIRT610834	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT610833	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT610832	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT495748	hsa-miR-1324	PAR-CLIP	22291592
MIRT495747	hsa-miR-3166	PAR-CLIP	22291592
MIRT495746	hsa-miR-4771	PAR-CLIP	22291592
MIRT495745	hsa-miR-1273h-3p	PAR-CLIP	22291592
MIRT903225	hsa-miR-1206	CLIP-seq
MIRT903226	hsa-miR-1226	CLIP-seq
MIRT903227	hsa-miR-197	CLIP-seq
MIRT903228	hsa-miR-412	CLIP-seq
MIRT903229	hsa-miR-4502	CLIP-seq
MIRT903230	hsa-miR-4522	CLIP-seq
MIRT903231	hsa-miR-4733-3p	CLIP-seq
MIRT1967812	hsa-miR-34c-3p	CLIP-seq
MIRT1967813	hsa-miR-483-3p	CLIP-seq
MIRT1967814	hsa-miR-508-5p	CLIP-seq
MIRT1967815	hsa-miR-520a-5p	CLIP-seq
MIRT1967816	hsa-miR-525-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005594	Component	Collagen type IX trimer	IBA	21873635
GO:0005594	Component	Collagen type IX trimer	IDA	8660302
GO:0005594	Component	Collagen type IX trimer	TAS	9707347
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0009887	Process	Animal organ morphogenesis	TAS	3473493
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IC	8660302
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231

Other IDs

• MIM: 120210
• HGNC: 2217
• e!Ensembl: ENSG00000112280

Protein

• UniProt ID: P20849
• Protein name: Collagen alpha-1(IX) chain
• Protein function: Structural component of hyaline cartilage and vitreous of the eye.
• PDB: 2UUR, 5CTD, 5CTI, 5CVA, 5CVB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	266 → 326	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	303 → 358	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	357 → 409	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	415 → 474	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	454 → 531	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	643 → 716	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	697 → 760	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	785 → 849	Collagen triple helix repeat (20 copies)	Repeat

• Sequence:

  MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLI
  SQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMT
  GSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQW
  HKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLI
  HCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGP
  PGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIP
  GPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS
  GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDK
  GEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLP
  GVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQM
  GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLP
  GMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSR
  GLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAAS
  LKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK
  GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGF
  CEPASCTMQAGQRAFNKGPDP

• Sequence length: 921

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection

Reactome:

Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Epiphyseal dysplasia	Epiphyseal dysplasia, EPIPHYSEAL DYSPLASIA, MULTIPLE, 6	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817	11565064, 16691584
Hearing loss	Sensorineural Hearing Loss (disorder), Sensory hearing loss	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	16909383
Melnick-needles syndrome	Melnick-Needles Syndrome	rs28935472, rs28935473	16909383, 11565064
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia, Multiple epiphyseal dysplasia due to collagen 9 anomaly	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939	11565064, 16691584, 16909383
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023	16909383
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	11565064, 16909383
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Schwartz-jampel syndrome	Schwartz-Jampel Syndrome	rs886039909, rs927473035, rs1572304438, rs1572356343	16909383, 11565064
Spondyloenchondrodysplasia	Spondyloepiphyseal Dysplasia Tarda, X-Linked	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246	16909383, 11565064
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099, rs869312907, rs886041895, rs760093841, rs374379931, rs1471554906, rs1567185220, rs1567186585, rs1592198747, rs1239366051, rs1592197682	11565064, 16909383
Stickler syndrome	Stickler syndrome (disorder), STICKLER SYNDROME, TYPE IV, Autosomal recessive Stickler syndrome	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	16718610, 16909383, 15802199, 21421862, 16691584, 11565064
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism
Chondrodystrophic myotonia	Schwartz-Jampel Syndrome, Type 1		16909383, 11565064
Degenerative vitreoretinopathy	Degenerative vitreoretinopathy
Disorder of eye	Disorder of eye
Dwarfism	Dwarfism
Dyschondroplasias	Dyschondroplasias		11565064, 16909383
Micrognathism	Micrognathism
Micromelia	Micromelia
Retinal diseases	Retinal Diseases		16909383
Schmorl`s nodes	Schmorl`s nodes
Van buchem disease	Van Buchem disease		16909383, 11565064
Vitreoretinal degeneration	Vitreoretinal degeneration