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	nonsyndromic deafness

Disease ID	1822
Disease	nonsyndromic deafness
Definition	Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body.Genetic changes are related to the following types of nonsyndromic deafness. - Wikipedia Reference: https://en.wikipedia.org/wiki/nonsyndromic deafness
Synonym	isolated deafness nonsyndromic hearing impairment nonsyndromic hearing loss undifferentiated deafness
DOID	DOID:0050563
UMLS	C3711374
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C1863752 \| enlarged vestibular aqueduct \| 2 C0022116 \| ischemia \| 1 C0042568 \| vertebrobasilar ischemia \| 1 C0026769 \| multiple sclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:90) 5269 \| SERPINB6 \| UniProtKB-KW 53904 \| MYO3A \| UniProtKB-KW 1687 \| DFNA5 \| UniProtKB-KW;GHR 9381 \| OTOF \| UniProtKB-KW;GHR 340990 \| OTOG \| UniProtKB-KW 79784 \| MYH14 \| UniProtKB-KW 1288 \| COL4A6 \| UniProtKB-KW 87178 \| PNPT1 \| UniProtKB-KW 64072 \| CDH23 \| UniProtKB-KW;GHR 4233 \| MET \| UniProtKB-KW 4647 \| MYO7A \| UniProtKB-KW;GHR 5631 \| PRPS1 \| UniProtKB-KW 3082 \| HGF \| UniProtKB-KW 2706 \| GJB2 \| UniProtKB-KW;GHR 57465 \| TBC1D24 \| UniProtKB-KW 56616 \| DIABLO \| UniProtKB-KW 286262 \| TPRN \| UniProtKB-KW 4254 \| KITLG \| UniProtKB-KW 51168 \| MYO15A \| UniProtKB-KW;GHR 71 \| ACTG1 \| UniProtKB-KW;GHR 161497 \| STRC \| UniProtKB-KW;GHR 4627 \| MYH9 \| UniProtKB-KW 107 \| ADCY1 \| UniProtKB-KW 10518 \| CIB2 \| UniProtKB-KW 11078 \| TRIOBP \| UniProtKB-KW;GHR 10083 \| USH1C \| UniProtKB-KW;GHR 5459 \| POU4F3 \| UniProtKB-KW 10804 \| GJB6 \| UniProtKB-KW;GHR 23676 \| SMPX \| UniProtKB-KW 283310 \| OTOGL \| UniProtKB-KW 1302 \| COL11A2 \| CLINVAR;GHR 7466 \| WFS1 \| UniProtKB-KW;GHR 253827 \| MSRB3 \| UniProtKB-KW 388551 \| CEACAM16 \| UniProtKB-KW 389207 \| GRXCR1 \| UniProtKB-KW 7007 \| TECTA \| UniProtKB-KW;GHR 5456 \| POU3F4 \| UniProtKB-KW;GHR 79731 \| NARS2 \| UniProtKB-KW 5962 \| RDX \| UniProtKB-KW 51473 \| DCDC2 \| CLINVAR;UniProtKB-KW 22953 \| P2RX2 \| UniProtKB-KW 491 \| ATP2B2 \| GHR 374462 \| PTPRQ \| UniProtKB-KW 23562 \| CLDN14 \| UniProtKB-KW;GHR 222662 \| LHFPL5 \| UniProtKB-KW;GHR 65217 \| PCDH15 \| UniProtKB-KW;GHR 2707 \| GJB3 \| UniProtKB-KW;GHR 375611 \| SLC26A5 \| UniProtKB-KW 246213 \| SLC17A8 \| UniProtKB-KW 4646 \| MYO6 \| UniProtKB-KW;GHR 9455 \| HOMER2 \| UniProtKB-KW 1690 \| COCH \| UniProtKB-KW;GHR 83715 \| ESPN \| UniProtKB-KW;GHR 1428 \| CRYM \| UniProtKB-KW 2070 \| EYA4 \| UniProtKB-KW;GHR 220074 \| LRTOMT \| UniProtKB-KW 124842 \| TMEM132E \| UniProtKB-KW 9294 \| S1PR2 \| UniProtKB-KW 117531 \| TMC1 \| UniProtKB-KW;GHR 79977 \| GRHL2 \| UniProtKB-KW 5172 \| SLC26A4 \| UniProtKB-KW;GHR 9132 \| KCNQ4 \| UniProtKB-KW;GHR 6495 \| SIX1 \| UniProtKB-KW 84173 \| ELMOD3 \| UniProtKB-KW 51475 \| CABP2 \| UniProtKB-KW 54084 \| TSPEAR \| UniProtKB-KW 125336 \| LOXHD1 \| UniProtKB-KW 4512 \| MT-CO1 \| UniProtKB-KW 286676 \| ILDR1 \| UniProtKB-KW 9750 \| FAM65B \| UniProtKB-KW 163183 \| SYNE4 \| UniProtKB-KW 146183 \| OTOA \| UniProtKB-KW 2103 \| ESRRB \| UniProtKB-KW 152137 \| CCDC50 \| UniProtKB-KW 494513 \| DFNB59 \| UniProtKB-KW;GHR 81624 \| DIAPH3 \| UniProtKB-KW 8556 \| CDC14A \| UniProtKB-KW 2059 \| EPS8 \| UniProtKB-KW 1729 \| DIAPH1 \| UniProtKB-KW 64699 \| TMPRSS3 \| UniProtKB-KW;GHR 4640 \| MYO1A \| GHR 153562 \| MARVELD2 \| UniProtKB-KW 53405 \| CLIC5 \| UniProtKB-KW 3735 \| KARS \| UniProtKB-KW 8763 \| CD164 \| UniProtKB-KW 3371 \| TNC \| UniProtKB-KW 259236 \| TMIE \| UniProtKB-KW;GHR 4171 \| MCM2 \| UniProtKB-KW 9885 \| OSBPL2 \| UniProtKB-KW 643226 \| GRXCR2 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2706 \| GJB2 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:191) 71 \| ACTG1 \| 4.463 \| DISEASES 9507 \| ADAMTS4 \| 1.062 \| DISEASES 104 \| ADARB1 \| 1.474 \| DISEASES 491 \| ATP2B2 \| 1.159 \| DISEASES 493 \| ATP2B4 \| 1.108 \| DISEASES 7917 \| BAG6 \| 1.507 \| DISEASES 10134 \| BCAP31 \| 1.408 \| DISEASES 55814 \| BDP1 \| 1.535 \| DISEASES 254065 \| BRWD3 \| 2.392 \| DISEASES 7809 \| BSND \| 2.356 \| DISEASES 689 \| BTF3 \| 1.414 \| DISEASES 755 \| C21orf2 \| 2.7 \| DISEASES 774 \| CACNA1B \| 1.092 \| DISEASES 152137 \| CCDC50 \| 3.058 \| DISEASES 8556 \| CDC14A \| 1.57 \| DISEASES 64072 \| CDH23 \| 5.982 \| DISEASES 388551 \| CEACAM16 \| 3.97 \| DISEASES 10519 \| CIB1 \| 3.174 \| DISEASES 1187 \| CLCNKA \| 1.572 \| DISEASES 1188 \| CLCNKB \| 1.53 \| DISEASES 23562 \| CLDN14 \| 4.797 \| DISEASES 137075 \| CLDN23 \| 2.039 \| DISEASES 9080 \| CLDN9 \| 2.171 \| DISEASES 9022 \| CLIC3 \| 2.015 \| DISEASES 7401 \| CLRN1 \| 1.506 \| DISEASES 7555 \| CNBP \| 1.028 \| DISEASES 22837 \| COBLL1 \| 1.879 \| DISEASES 1302 \| COL11A2 \| 4.973 \| DISEASES 1287 \| COL4A5 \| 1.926 \| DISEASES 1288 \| COL4A6 \| 1.046 \| DISEASES 1413 \| CRYBA4 \| 1.777 \| DISEASES 1415 \| CRYBB2 \| 1.187 \| DISEASES 155051 \| CRYGN \| 2.605 \| DISEASES 2017 \| CTTN \| 1.049 \| DISEASES 7818 \| DAP3 \| 1.963 \| DISEASES 131566 \| DCBLD2 \| 2.058 \| DISEASES 51473 \| DCDC2 \| 1.232 \| DISEASES 149069 \| DCDC2B \| 3.49 \| DISEASES 1668 \| DEFA3 \| 1.065 \| DISEASES 1687 \| DFNA5 \| 5.065 \| DISEASES 494513 \| DFNB59 \| 5.466 \| DISEASES 1729 \| DIAPH1 \| 3.996 \| DISEASES 81624 \| DIAPH3 \| 3.795 \| DISEASES 23312 \| DMXL2 \| 2.271 \| DISEASES 9732 \| DOCK4 \| 2.518 \| DISEASES 79659 \| DYNC2H1 \| 1.548 \| DISEASES 8291 \| DYSF \| 1.674 \| DISEASES 79813 \| EHMT1 \| 1.062 \| DISEASES 64787 \| EPS8L2 \| 2.703 \| DISEASES 83715 \| ESPN \| 4.524 \| DISEASES 2103 \| ESRRB \| 3.308 \| DISEASES 2138 \| EYA1 \| 2.859 \| DISEASES 2070 \| EYA4 \| 5.18 \| DISEASES 23201 \| FAM168A \| 1.961 \| DISEASES 54757 \| FAM20A \| 1.415 \| DISEASES 60343 \| FAM3A \| 2.158 \| DISEASES 54097 \| FAM3B \| 1.318 \| DISEASES 10447 \| FAM3C \| 2.393 \| DISEASES 131177 \| FAM3D \| 2.078 \| DISEASES 9873 \| FCHSD2 \| 1.627 \| DISEASES 654463 \| FER1L6 \| 3.006 \| DISEASES 2257 \| FGF12 \| 1.576 \| DISEASES 2248 \| FGF3 \| 1.426 \| DISEASES 342184 \| FMN1 \| 1.564 \| DISEASES 22862 \| FNDC3A \| 1.099 \| DISEASES 2302 \| FOXJ1 \| 1.182 \| DISEASES 6624 \| FSCN1 \| 1.012 \| DISEASES 53828 \| FXYD4 \| 3.053 \| DISEASES 57704 \| GBA2 \| 1.168 \| DISEASES 10755 \| GIPC1 \| 1.036 \| DISEASES 54810 \| GIPC2 \| 2.124 \| DISEASES 2705 \| GJB1 \| 1.771 \| DISEASES 2706 \| GJB2 \| 8.111 \| DISEASES 2707 \| GJB3 \| 5.955 \| DISEASES 127534 \| GJB4 \| 3.184 \| DISEASES 2709 \| GJB5 \| 2.02 \| DISEASES 349149 \| GJC3 \| 4.693 \| DISEASES 2710 \| GK \| 1.003 \| DISEASES 2801 \| GOLGA2 \| 2.22 \| DISEASES 57120 \| GOPC \| 1.449 \| DISEASES 29841 \| GRHL1 \| 1.639 \| DISEASES 389207 \| GRXCR1 \| 4.614 \| DISEASES 643226 \| GRXCR2 \| 3.49 \| DISEASES 84705 \| GTPBP3 \| 2.524 \| DISEASES 340784 \| HMX3 \| 2.628 \| DISEASES 3198 \| HOXA1 \| 1.275 \| DISEASES 3326 \| HSP90AB1 \| 1.514 \| DISEASES 286676 \| ILDR1 \| 5.515 \| DISEASES 83943 \| IMMP2L \| 1.61 \| DISEASES 387755 \| INSC \| 1.975 \| DISEASES 9452 \| ITM2A \| 2.181 \| DISEASES 3735 \| KARS \| 1.922 \| DISEASES 3766 \| KCNJ10 \| 2.903 \| DISEASES 11133 \| KPTN \| 2.022 \| DISEASES 55203 \| LGI2 \| 1.753 \| DISEASES 375612 \| LHFPL3 \| 2.499 \| DISEASES 222662 \| LHFPL5 \| 4.481 \| DISEASES 3980 \| LIG3 \| 1.586 \| DISEASES 3996 \| LLGL1 \| 2.045 \| DISEASES 474354 \| LRRC18 \| 2.67 \| DISEASES 51599 \| LSR \| 2.29 \| DISEASES 4134 \| MAP4 \| 1.146 \| DISEASES 153562 \| MARVELD2 \| 5.149 \| DISEASES 84299 \| MIEN1 \| 2.426 \| DISEASES 4359 \| MPZ \| 1.711 \| DISEASES 6182 \| MRPL12 \| 2.291 \| DISEASES 253827 \| MSRB3 \| 3.836 \| DISEASES 4508 \| MT-ATP6 \| 1.233 \| DISEASES 4512 \| MT-CO1 \| 2.503 \| DISEASES 4538 \| MT-ND4 \| 1.411 \| DISEASES 25821 \| MTO1 \| 3.122 \| DISEASES 4549 \| MT-RNR1 \| 5.88 \| DISEASES 4574 \| MT-TS1 \| 4.563 \| DISEASES 29116 \| MYLIP \| 1.263 \| DISEASES 4542 \| MYO1F \| 2.578 \| DISEASES 140469 \| MYO3B \| 2.389 \| DISEASES 4644 \| MYO5A \| 1.442 \| DISEASES 4646 \| MYO6 \| 5.17 \| DISEASES 4647 \| MYO7A \| 5.687 \| DISEASES 4649 \| MYO9A \| 2.036 \| DISEASES 26509 \| MYOF \| 3.319 \| DISEASES 29937 \| NENF \| 2.097 \| DISEASES 146183 \| OTOA \| 4.742 \| DISEASES 340990 \| OTOG \| 4.445 \| DISEASES 283310 \| OTOGL \| 3.299 \| DISEASES 22953 \| P2RX2 \| 2.627 \| DISEASES 56666 \| PANX2 \| 1.5 \| DISEASES 25973 \| PARS2 \| 2.033 \| DISEASES 65217 \| PCDH15 \| 5.192 \| DISEASES 5101 \| PCDH9 \| 1.818 \| DISEASES 79955 \| PDZD7 \| 3.829 \| DISEASES 221692 \| PHACTR1 \| 1.391 \| DISEASES 58473 \| PLEKHB1 \| 1.514 \| DISEASES 25894 \| PLEKHG4 \| 1.094 \| DISEASES 5456 \| POU3F4 \| 5.915 \| DISEASES 3275 \| PRMT2 \| 1.826 \| DISEASES 5631 \| PRPS1 \| 3.496 \| DISEASES 51334 \| PRR16 \| 1.081 \| DISEASES 5802 \| PTPRS \| 1.355 \| DISEASES 169714 \| QSOX2 \| 2.795 \| DISEASES 5884 \| RAD17 \| 1.033 \| DISEASES 5962 \| RDX \| 1.201 \| DISEASES 10287 \| RGS19 \| 1.417 \| DISEASES 5269 \| SERPINB6 \| 1.058 \| DISEASES 22941 \| SHANK2 \| 2.585 \| DISEASES 26503 \| SLC17A5 \| 1.437 \| DISEASES 10166 \| SLC25A15 \| 2.948 \| DISEASES 293 \| SLC25A6 \| 1.115 \| DISEASES 10861 \| SLC26A1 \| 2.849 \| DISEASES 284129 \| SLC26A11 \| 3.072 \| DISEASES 1811 \| SLC26A3 \| 2.956 \| DISEASES 65010 \| SLC26A6 \| 3.372 \| DISEASES 116369 \| SLC26A8 \| 3.119 \| DISEASES 115019 \| SLC26A9 \| 1.843 \| DISEASES 64924 \| SLC30A5 \| 1.676 \| DISEASES 54020 \| SLC37A1 \| 2.739 \| DISEASES 57153 \| SLC44A2 \| 2.704 \| DISEASES 6522 \| SLC4A2 \| 1.583 \| DISEASES 23676 \| SMPX \| 4.188 \| DISEASES 6663 \| SOX10 \| 1.424 \| DISEASES 161497 \| STRC \| 5.296 \| DISEASES 3703 \| STT3A \| 2.822 \| DISEASES 29091 \| STXBP6 \| 2.192 \| DISEASES 255928 \| SYT14 \| 2.512 \| DISEASES 84258 \| SYT3 \| 2.448 \| DISEASES 84958 \| SYTL1 \| 2.556 \| DISEASES 129685 \| TAF8 \| 1.255 \| DISEASES 6975 \| TECTB \| 4.036 \| DISEASES 7019 \| TFAM \| 1.047 \| DISEASES 51106 \| TFB1M \| 3.899 \| DISEASES 7053 \| TGM3 \| 2.027 \| DISEASES 1678 \| TIMM8A \| 1.7 \| DISEASES 9414 \| TJP2 \| 2.286 \| DISEASES 117532 \| TMC2 \| 4.571 \| DISEASES 342125 \| TMC3 \| 3.367 \| DISEASES 23670 \| TMEM2 \| 3.664 \| DISEASES 259236 \| TMIE \| 5.566 \| DISEASES 56649 \| TMPRSS4 \| 5.438 \| DISEASES 10043 \| TOM1 \| 1.515 \| DISEASES 286262 \| TPRN \| 5.002 \| DISEASES 11078 \| TRIOBP \| 5.174 \| DISEASES 7106 \| TSPAN4 \| 1.908 \| DISEASES 54084 \| TSPEAR \| 2.642 \| DISEASES 7278 \| TUBA3C \| 2.46 \| DISEASES 113457 \| TUBA3D \| 1.132 \| DISEASES 89910 \| UBE3B \| 1.741 \| DISEASES 9354 \| UBE4A \| 1.945 \| DISEASES 10277 \| UBE4B \| 1.409 \| DISEASES 6843 \| VAMP1 \| 1.45 \| DISEASES 8565 \| YARS \| 1.571 \| DISEASES 144348 \| ZNF664 \| 2.312 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1822
Disease	nonsyndromic deafness
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0011387 \| Dilated vestibular aqueduct \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0001751 \| Vestibular dysfunction \| 1 HP:0008554 \| Cochlear malformation \| 1

Disease ID	1822
Disease	nonsyndromic deafness
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894396	20096468	2706	GJB2	umls:C3711374	BeFree	Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.	0.034321228	2010	GJB2	13	20189511	C	T
rs117685390	23640091	2706	GJB2	umls:C3711374	BeFree	In a NSHI family, inheritance of the rs117685390 C allele segregated on independent chromosomes with NSHI in conjunction with heterozygous inheritance of c.35delG, the most common Caucasian mutation in the GJB2 coding region.	0.034321228	2013	GJB2	13	20193170	A	G
rs121908073	20373850	117531	TMC1	umls:C3711374	BeFree	High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.	0.002171535	2010	TMC1	9	72694578	C	T
rs1801002	20096468	2706	GJB2	umls:C3711374	BeFree	Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.	0.034321228	2010	GJB2	13	20189547	C	T,A
rs1801002	23640091	2706	GJB2	umls:C3711374	BeFree	In a NSHI family, inheritance of the rs117685390 C allele segregated on independent chromosomes with NSHI in conjunction with heterozygous inheritance of c.35delG, the most common Caucasian mutation in the GJB2 coding region.	0.034321228	2013	GJB2	13	20189547	C	T,A
rs199606180	24194196	4647	MYO7A	umls:C3711374	BeFree	This finding further supports the premise that the MYO7A gene is responsible for two distinct diseases and gives evidence that the p.P1887L mutation in a homozygous state may be responsible for nonsyndromic hearing loss.	0.003257302	2013	MYO7A	11	77206120	C	T
rs28931593	25393658	2706	GJB2	umls:C3711374	BeFree	To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss.	0.034321228	2014	GJB2	13	20189358	C	T
rs28931593	15996214	2706	GJB2	umls:C3711374	BeFree	Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.	0.034321228	2005	GJB2	13	20189358	C	T
rs397514599	23084290	87178	PNPT1	umls:C3711374	BeFree	By positional cloning, we identified a homozygous PNPT1 missense mutation (c.1424A>G predicting the protein substitution p.Glu475Gly) of a highly conserved PNPase residue within the second RNase-PH domain in a family affected by autosomal-recessive nonsyndromic hearing impairment.	0.000271442	2012	PNPT1	2	55656148	T	C
rs397517255	24194196	25861	DFNB31	umls:C3711374	BeFree	Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II.	0.000542884	2013	DFNB31	9	114424483	G	A
rs606231410	NA	1302	COL11A2	umls:C3711374	CLINVAR	NA	0.12	NA	COL11A2	6	33189443	C	A
rs794729665	NA	51473	DCDC2	umls:C3711374	CLINVAR	NA	0.12	NA	DCDC2	6	24178385	T	G

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

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

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

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

Disease ID	1822
Disease	nonsyndromic deafness
Case	(Waiting for update.)

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