PedAM

Pediatric Disease Annotations & Medicines


	otosclerosis

Disease ID	152
Disease	otosclerosis
Definition	Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
Synonym	otoscleroses otosclerosis (disorder) otosclerosis 1 otosclerosis [disease/finding] otosclerosis nos otosclerosis nos (disorder) otosclerosis, nos otosclerosis, unspecified otospongioses otospongiosis otospongiosis, nos ots otsc1
OMIM	OMIM:166800
DOID	DOID:12185
UMLS	C0029899
MeSH	D010040
SNOMED-CT	SNOMEDCT_US_2016_09_01:11543004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0025007 \| measles \| 2 C0042769 \| virus infection \| 2 C1863752 \| enlarged vestibular aqueduct \| 1 C0018784 \| sensorineural hearing loss \| 1 C0025281 \| meniere's disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) RELN \| 5649 \| GWASCAT OTSC1 \| 5012 \| CTD_human;OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 1636 \| ACE \| infer 183 \| AGT \| infer 185 \| AGTR1 \| infer 1277 \| COL1A1 \| infer 1278 \| COL1A2 \| infer 5649 \| RELN \| infer 7040 \| TGFB1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:84) 7593 \| MZF1 \| DISEASES 10857 \| PGRMC1 \| DISEASES 123263 \| MTFMT \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 657 \| BMPR1A \| DISEASES 1277 \| COL1A1 \| DISEASES 3381 \| IBSP \| DISEASES 329 \| BIRC2 \| DISEASES 9519 \| TBPL1 \| DISEASES 8600 \| TNFSF11 \| DISEASES 652 \| BMP4 \| DISEASES 718 \| C3 \| DISEASES 6299 \| SALL1 \| DISEASES 5176 \| SERPINF1 \| DISEASES 3685 \| ITGAV \| DISEASES 1 \| A1BG \| DISEASES 1991 \| ELANE \| DISEASES 8452 \| CUL3 \| DISEASES 658 \| BMPR1B \| DISEASES 5972 \| REN \| DISEASES 4715 \| NDUFB9 \| DISEASES 4851 \| NOTCH1 \| DISEASES 5741 \| PTH \| DISEASES 284312 \| ZSCAN1 \| DISEASES 651 \| BMP3 \| DISEASES 1836 \| SLC26A2 \| DISEASES 114 \| ADCY8 \| DISEASES 6529 \| SLC6A1 \| DISEASES 4091 \| SMAD6 \| DISEASES 6781 \| STC1 \| DISEASES 2487 \| FRZB \| DISEASES 1278 \| COL1A2 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 717 \| C2 \| DISEASES 29123 \| ANKRD11 \| DISEASES 3094 \| HINT1 \| DISEASES 171558 \| PTCRA \| DISEASES 23592 \| LEMD3 \| DISEASES 196883 \| ADCY4 \| DISEASES 8557 \| TCAP \| DISEASES 4179 \| CD46 \| DISEASES 1960 \| EGR3 \| DISEASES 147179 \| WIPF2 \| DISEASES 2 \| A2M \| DISEASES 10139 \| ARFRP1 \| DISEASES 9241 \| NOG \| DISEASES 796 \| CALCA \| DISEASES 342184 \| FMN1 \| DISEASES 2009 \| EML1 \| DISEASES 113675 \| SDSL \| DISEASES 4771 \| NF2 \| DISEASES 26136 \| TES \| DISEASES 799 \| CALCR \| DISEASES 9851 \| KIAA0753 \| DISEASES 183 \| AGT \| DISEASES 6993 \| DYNLT1 \| DISEASES 55811 \| ADCY10 \| DISEASES 6280 \| S100A9 \| DISEASES 959 \| CD40LG \| DISEASES 653 \| BMP5 \| DISEASES 860 \| RUNX2 \| DISEASES 5730 \| PTGDS \| DISEASES 5456 \| POU3F4 \| DISEASES 659 \| BMPR2 \| DISEASES 54829 \| ASPN \| DISEASES 3107 \| HLA-C \| DISEASES 3105 \| HLA-A \| DISEASES 650 \| BMP2 \| DISEASES 2706 \| GJB2 \| DISEASES 9244 \| CRLF1 \| DISEASES 10106 \| CTDSP2 \| DISEASES 4148 \| MATN3 \| DISEASES 55636 \| CHD7 \| DISEASES 5649 \| RELN \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 139728 \| PNCK \| DISEASES 22862 \| FNDC3A \| DISEASES 4700 \| NDUFA6 \| DISEASES 6949 \| TCOF1 \| DISEASES 83695 \| RHNO1 \| DISEASES 100885779 \| LINC-ROR \| DISEASES 148756 \| OVAAL \| DISEASES
Locus	(Waiting for update.)

Disease ID	152
Disease	otosclerosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0000362 \| Otosclerosis HP:0000405 \| Conductive hearing loss
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0000410 \| Hearing loss, mixed \| 7 HP:0000405 \| Conductive hearing loss \| 5 HP:0002321 \| Vertigo \| 2 HP:0010885 \| Aseptic necrosis \| 1 HP:0000360 \| Ringing in the ears \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0001751 \| Vestibular dysfunction \| 1 HP:0002705 \| High, narrow palate \| 1 HP:0011387 \| Dilated vestibular aqueduct \| 1 HP:0000407 \| sensorineural hearing loss \| 1

Disease ID	152
Disease	otosclerosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:25) C2096293 \| vertigo C2029884 \| hearing loss C1963093 \| dizziness C1550639 \| fistula C1549524 \| mucous membrane C1384666 \| hearing impairment C1281300 \| vascular degeneration C0871189 \| psychotic symptoms C0700109 \| rigidity C0581883 \| deafness C0423479 \| ear symptoms C0260662 \| hearing disorders C0233777 \| hallucinosis C0206586 \| endolymphatic hydrops C0155552 \| mixed hearing loss C0155550 \| neural hearing loss C0155533 \| tinnitus aurium C0155509 \| perilymph fistula C0042769 \| virus infection C0042594 \| vestibular disorders C0020649 \| hypotension C0018784 \| sensorineural hearing loss C0018784 \| sensorineural deafness C0018777 \| conductive hearing loss C0018777 \| conductive deafness
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C1384666 \| hearing loss \| 18 C0155552 \| mixed hearing loss \| 7 C0018777 \| conductive hearing loss \| 4 C0042769 \| virus infection \| 2 C0042571 \| vertigo \| 2 C0018784 \| sensorineural hearing loss \| 1 C1384666 \| hearing impairment \| 1 C0018777 \| conductive deafness \| 1 C0155550 \| neural hearing loss \| 1 C0012833 \| dizziness \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs3914132	19230858	5649	RELN	umls:C0029899	GWASCAT	A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.	0.128729747	2009	RELN	7	103886922	C	T
rs3914132	20882487	5649	RELN	umls:C0029899	BeFree	Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India.	0.128729747	2010	RELN	7	103886922	C	T
rs3914132	19230858	5649	RELN	umls:C0029899	GAD	[A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.]	0.128729747	2009	RELN	7	103886922	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:13)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
2	82078480	rs2862590	G	T	rs2862590	19230858	6.73E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	NA
5	21586180	rs16888770	A	G	rs16888770	19230858	8.63E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	A	NA
7	103489992	rs39399	G	A	rs39399	19230858	1.66E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	RELN
7	103527369	rs3914132	C	T	rs3914132	19230858	2.00E-08	NA	1.54	[1.32-1.79]	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	T	RELN
11	11189537	rs885117	A	G	rs885117	19230858	3.24E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	NA
14	52621833	rs941614	A	G	rs941614	19230858	9.71E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	NA
15	82378808	rs2654227	C	T	rs2654227	19230858	4.44E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	C	NA
16	80818676	rs17761499	T	C	rs17761499	19230858	8.89E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	T	CDYL2
18	41685818	rs8099736	G	T	rs8099736	19230858	7.50E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	NA
19	37654976	rs1533736	A	G	rs1533736	19230858	8.35E-05	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	A	ZNF585A
19	37720972	rs1234261	C	T	rs1234261	19230858	4.62E-07	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	C	ZNF383
19	37823811	rs1530500	A	G	rs1530500	19230858	1.67E-06	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	NA
19	37875631	rs256733	T	C	rs256733	19230858	7.82E-06	NA	NA	NA	302 cases; 302 controls	NOPOP(604)	ALL(604)	NOPOP(604)	ALL(604)	Otosclerosis	HPOID:0000362	Otosclerosis	DOID:12185	otosclerosis	D010040	Otosclerosis	EFOID:0004213	otosclerosis	Nervous system disease	NA	Research Support, Non-U.S. Gov't	G	ZNF527

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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