about
P1269
Myelin basic proteinSolute carrier family 26, member 5Collagen, type II, alpha 1Doublecortin domain containing 2aCollagen, type I, alpha 1Intercellular adhesion molecule 1Aquaporin 4Hexosaminidase BSolute carrier family 1 (glial high affinity glutamate transporter), member 3Myosin VIIAProsaposinFibroblast growth factor receptor 1Caspase 3UrocortinPotassium voltage-gated channel subfamily E regulatory subunit 1Chromodomain helicase DNA binding protein 7NIPBL cohesin loading factorSuperoxide dismutase 1, solubleSuperoxide dismutase 2, mitochondrialSuperoxide dismutase 1Aldehyde dehydrogenase 7 family member A1BarH like homeobox 1F-box protein 11Acid sensing ion channel subunit 2Calcium voltage-gated channel subunit alpha1 DClarin 1Contactin 5Cyclin dependent kinase inhibitor 2DRHO family interacting cell polarization regulator 2Glutaredoxin and cysteine rich domain containing 2Transcription factor AP-2 alphaEspin likeLipoxygenase homology domains 1NADH:ubiquinone oxidoreductase subunit B9Potassium voltage-gated channel subfamily Q member 4Otogelin likeCell migration inducing hyaluronidase 1Chloride intracellular channel 5Collagen type XI alpha 2 chainReceptor tyrosine kinase like orphan receptor 1
P682
Nonsyndromic hearing impairment is associated with a mutation in DFNA5Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessMolecular cloning of a zinc finger gene eZNF from a human inner ear cDNA library, and in situ expression pattern of its mouse homologue in mouse inner earA gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat proteinX-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsSequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneityMutations in COL11A2 cause non-syndromic hearing loss (DFNA13)A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mappingCarcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing lossFAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.Modification of human hearing loss by plasma-membrane calcium pump PMCA2Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossTargeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Prestin, a cochlear motor protein, is defective in non-syndromic hearing lossMultiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing lossBrown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosisMutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in JapaneseMutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locusIdentification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndromeMutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humansDigenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansNovel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossAn ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)Epistatic relationship between Waardenburg syndrome genes MITF and PAX3A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndromeThe human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndromeGRM7 variants confer susceptibility to age-related hearing impairmentIdentification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafnessTricellulin is a tight-junction protein necessary for hearing.Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patientsA frameshift mutation in GRXCR2 causes recessively inherited hearing lossA mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing lossHOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
P921
Q14876145-71C05473-9F18-4E56-BA49-0A12EA8C2C2EQ14876830-64CF185E-7C18-46DF-ACB3-5A7FBAF101A1Q14877688-820E3C2D-9619-4D85-922E-ACC61C2ACB71Q14877951-3E5C7A4F-50E2-41DB-8667-C9D527B2CF4AQ14877951-B2D55ACE-1329-4C3C-94E0-1A51BBEF73B8Q14881727-E8BCC7A9-9230-4639-83DF-DF340E430F4FQ14891112-53CFA7D5-BEFC-4880-90DA-E7AE4FD36398Q14902507-39684C9F-09A5-4FF3-A11B-9A8150F1D5EDQ14905015-67FC5A50-A4DD-4207-B55D-80672FBBB838Q14913173-96561650-03A0-4829-8E37-9E7802D61635Q14914032-E66B57AF-5F4E-4E86-BF8D-551E19473A34Q14914245-9E17C379-75E6-4639-A6F2-6EFE8A4514A1Q14914262-5EAA1B27-8AE3-4072-AD04-5CCF4F303B5DQ14914375-EF922FEC-65A7-422A-8CB4-C347087F2476Q14916447-2A3BD493-E692-41E1-BC69-8E0357D800E3Q1500343-8BF044BA-B65F-4035-B3F8-5ADF4AF0000DQ15311456-73845FA7-895B-43E5-B409-A9B83DC7306EQ15311625-D331182C-CA16-4D9F-8076-A5C41C6D1A01Q15328173-8CC49DF9-E92B-42C9-872D-C31D44F30E1CQ15335644-1D210B66-A29D-4176-B011-CCE6B64019D3Q2041084-D7AE9556-E9B7-48A6-9DE0-DCF059DE4301Q21097150-C488C58B-42C8-4C89-BDE6-C2E624EB46F4Q21100419-A6A2F130-1C75-42A1-8480-9853EDAD08E8Q21101352-1151038F-51F0-49E8-99D2-B4EC64AF1582Q21102082-402015FF-5892-4C4C-BFBB-C6B75A624C0AQ21102146-1074E4EA-5AD8-4783-88DD-09224CF6F5CCQ21102417-51A3099A-EED6-4080-9AC0-6D468E4B109CQ21102433-A72EFEC2-C1FD-41B7-83E3-1C97CA9EDD17Q21105502-99AF32B8-E7AB-4EFF-976F-88E99780524BQ21105989-6F1B7619-FB81-4456-AAA8-8281139DDDA7Q21106216-21E64FE6-854D-44F0-BB5D-2029AABFB14CQ21106376-58304B66-7579-405D-AE3D-AE3B68EE7AACQ21107302-17A58D3F-C0C6-4FB7-A2BA-1527264109CFQ21107924-430B7342-4A00-4CFA-A079-09496C234CCAQ21107983-8434C03F-ACBB-4C6B-B9E6-EEA8357AED54Q21108785-945A47AA-0D4B-42A7-A44A-0867773C60FAQ21109146-1FAF46F7-D06E-4C6A-9CCB-FB248A7B1307Q21109733-42F327E6-897C-42D2-906E-270582CB6FCDQ21109835-C897D7C2-1CE4-4B12-A2DA-3ADB24AC1D96Q21109884-2E1D5244-DCB1-43F5-9555-5C3A4D6B3EDF
P682
Q22003955-87B34F7F-304A-4764-98D9-27725A4EE60DQ22008703-C57047A4-44F1-447C-AAB1-80203038AFDAQ22008711-C4CE1F97-0C35-47E5-BFA4-961F498190C6Q22008800-2F41C738-C826-4A93-A021-8E189BAAD6E9Q22010051-DB2DB3A4-A9E6-466B-AEAD-DA8530400F03Q22010660-8BF21B85-D5AD-4136-9685-9A1FFD5F59D5Q22010841-EE3D3B2D-3F9C-4773-80C9-670797AE4395Q22010864-1E03C96B-C9AD-4BA7-9E8D-3B92DE1FC570Q22254343-8F748473-4867-41FA-8B0B-473A001D9689Q24294638-0B9D45AE-0C85-4322-81A6-D025F91ED477Q24296425-0AFF29A7-3910-4463-8A61-96AA4E257E7FQ24298272-F1F1A051-1EBA-4DAC-9E8A-81F0967CFD34Q24298441-2125C6DA-4F3E-427C-8967-663F41F93378Q24299788-817337F5-D09B-473B-8B9A-C6AE9342344DQ24300034-A5D684B5-E694-4FB1-9A3C-DB7D3EBD92A0Q24300273-76E7BCB2-B93C-43A7-BDA1-CF4CDEAACFE8Q24300298-29929A83-0A7A-49E2-ABFB-BDE475012F0FQ24300723-0A14693B-9859-4C58-AEC7-3839DD2DB9F2Q24301501-4D132328-D4D3-4C4F-A305-984974A99D28Q24301760-560036BD-477C-401F-854F-F43DE1C41FFFQ24305162-273CC6E9-0DCA-4176-A49D-6363DF8A4C93Q24305234-CA3228F2-23E8-4DEB-971D-F43D8EEBBFA0Q24309026-37557CA0-2721-4504-AAC2-0220245D978AQ24310158-8149A2A3-FA53-4AA5-AB7A-19B0F5C5E2E7Q24313238-64945311-0D57-4080-AD84-07F5A25FEDC8Q24313518-E582B846-05B3-45FA-9DE9-DC985C5CD29DQ24315649-2C8C08A8-0BDF-435D-BD34-1A00EF37C497Q24317113-231EDDB2-B777-45EB-A9FA-0A0EEAE817E9Q24317196-AD8A2518-F8C5-4BF4-B558-1CFAB4C1D532Q24318498-B81D156E-71BA-4500-A371-8BBE52AD892EQ24318817-B179934C-8852-4B3E-A28E-4BDB588DAC34Q24320011-3CFF8012-3C28-4E07-88DA-7F62B2200DDAQ24324566-DF335FC3-97EB-42D3-9080-85F63009F669Q24337513-C9030D52-825F-49BA-A90C-BFB1FBC3F7D6Q24337885-5D14CD96-07EF-469D-B2F6-9EB22D474BB7Q24338111-77D46818-AA1E-4B0F-A6D8-E00A7AD1A5F6Q24338978-E5F6DAD5-EC3C-47B6-9C1B-8A792AD3794DQ24670142-E4B4A5A0-FE9D-4D44-A284-854567B6BDA4Q27311312-80F91739-7F27-4A6B-8037-17CE3ED94BF0Q28119014-7EA0FCD6-11D4-470B-8803-1D79ED35D06E
P921
description
The series of events required ...... are processed to form a sound.
@en
biologisch proces
@nl
name
perception
@sw
sensory perception of sound
@en
smyslové vnímání zvuku
@cs
type
label
perception
@sw
sensory perception of sound
@en
smyslové vnímání zvuku
@cs
altLabel
GO:0007605
@en
hearing
@en
perception of sound
@en
prefLabel
perception
@sw
sensory perception of sound
@en
smyslové vnímání zvuku
@cs
P2888
P686
GO:0007605