Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1297
Gene name	Collagen type IX alpha 1 chain
Gene symbol	COL9A1
Synonyms (NCBI Gene)	DJ149L1.1.2EDM6MEDSTL4
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

Show/Hide all (16)

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

172

Show/Hide all (172)

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

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15047691, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005594	Component	Collagen type IX trimer	IBA
GO:0005594	Component	Collagen type IX trimer	IDA	8660302
GO:0005594	Component	Collagen type IX trimer	IPI	27897211
GO:0005594	Component	Collagen type IX trimer	TAS	9707347
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	3473493
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
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:0030246	Function	Carbohydrate binding	EXP	15047691
GO:0030246	Function	Carbohydrate binding	IMP	15047691
GO:0030246	Function	Carbohydrate binding	IPI	15047691, 17553797
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031012	Component	Extracellular matrix	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	8660302
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
120210	2217	ENSG00000112280

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

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COL9A1-related disorder	Likely pathogenic; Pathogenic	rs1482734025, rs2127557714, rs759460647, rs2483312174, rs1049091691, rs374843706	RCV003399213 RCV004750915 RCV004731222 RCV004529120 RCV004801241 RCV004751604 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs1404756199, rs189754995	RCV002276946 RCV002277296	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epiphyseal dysplasia, multiple, 6	Pathogenic; Likely pathogenic	rs770789859, rs2483455914	RCV002482695 RCV003153229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs2127544065	RCV001353199	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Likely pathogenic	rs2483425306	RCV004018302	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome, type 4	Pathogenic; Likely pathogenic	rs770789859, rs189754995, rs755976129, rs121912931, rs201035486	RCV002482695 RCV000148951 RCV003447689 RCV000018735 RCV003989592	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE STICKLER SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marfan syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Epiphyseal Dysplasia, Dominant	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME TYPE 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler Syndrome, Recessive	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE IV	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	17301974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	10973135, 11378664, 12028055, 1520607, 22924376		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	10973135, 11378664, 12028055, 1520607, 22924376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29805540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30643080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive Stickler syndrome	Stickler Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases, Developmental	Bone Disease	BEFREE	18546327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30657779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27936202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31590967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26973327, 27819742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar medulloblastoma	Cerebellar medulloblastoma	BEFREE	9420431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28038565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	27819742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Collagenopathy type 2 alpha 1	Collagenopathy	Pubtator	33951325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	23254326, 27819742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10788539, 20077500, 25048791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative vitreoretinopathy	Degenerative vitreoretinopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30664617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29349514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31590967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	18553123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	8752657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6	Epiphyseal dysplasia	GENOMICS_ENGLAND_DG	11565064, 16691584		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6	Epiphyseal dysplasia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9788574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31315069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	1642095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17347910, 8828968, 8882879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	8828968, 8882879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30194545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25510649	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27477082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25774918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30657779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022, 9788574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30664617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17347910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	11479597, 11528506, 11565064, 11891674, 15183431, 15694129, 16440132, 16514635, 17200202, 18193163, 21922596, 31315069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	GENOMICS_ENGLAND_DG	16691584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple Epiphyseal Dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CTD_human_DG	16909383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	28938620		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21868677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26973327, 32878268	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Hip	Osteoarthritis	Pubtator	15880806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	10788539, 15880806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	11565064		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	11565064, 16909383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	11565064, 21922596, 30740902, 31315069, 39596690, 40392407	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	31732751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24101134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31072097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	15183431, 18193163, 18546327, 21922596, 9021009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	CTD_human_DG	16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20212452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schmorl`s nodes	Schmorl`s Nodes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Serous retinal detachment	Serous Retinal Detachment	BEFREE	21421862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	CLINGEN_DG	15802199, 16718610, 16909383, 21421862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	16909383, 21421862, 21671392, 23922384, 31315069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	16909383, 22522174, 31315069, 34405586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	16909383, 21421862, 21671392, 23922384, 31315069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE IV	Stickler syndrome	GENOMICS_ENGLAND_DG	11565064, 16691584		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE IV	Stickler syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE IV	Stickler syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28938620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	11565064, 16909383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

COL9A1 (collagen type IX alpha 1 chain)