ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant nonsyndromic deafness
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Accession:DOID:0050564 term browser browse the term
Definition:A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)
Synonyms:exact_synonym: AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA;   autosomal dominant deafness
 primary_id: RDO:9002439
 alt_id: DOID:9009137
 xref: OMIM:PS124900;   ORDO:90635
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:8554872
G Pde1c phosphodiesterase 1C JBrowse link 4 86,359,762 86,925,044 RGD:8554872
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:7240710
RGD:8554872
RGD:12910984
Autosomal Dominant Deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc17a8 solute carrier family 17 member 8 JBrowse link 7 30,215,231 30,274,993 RGD:7240710
RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:13592920
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rest RE1-silencing transcription factor JBrowse link 14 33,131,985 33,152,019 RGD:7240710
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:1599382
RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P2rx2 purinergic receptor P2X 2 JBrowse link 12 52,397,666 52,401,005 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc50 coiled-coil domain containing 50 JBrowse link 11 76,742,179 76,804,695 RGD:7240710
RGD:9685138
RGD:8554872
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo1a myosin IA JBrowse link 7 71,000,299 71,019,386 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:13592920
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:7240710
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsdme gasdermin E JBrowse link 4 79,934,075 79,999,678 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir96 microRNA 96 JBrowse link 4 57,463,366 57,463,471 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:7240710
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pappa1 pappalysin 1 JBrowse link 5 80,919,932 81,153,904 RGD:8554872
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:7240710
RGD:8554872
G Tnfsf8 TNF superfamily member 8 JBrowse link 5 79,664,779 79,691,547 RGD:8554872
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diablo diablo, IAP-binding mitochondrial protein JBrowse link 12 38,490,230 38,503,344 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd164 CD164 molecule JBrowse link 20 46,250,418 46,261,994 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osbpl2 oxysterol binding protein-like 2 JBrowse link 3 175,493,650 175,538,965 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Homer2 homer scaffold protein 2 JBrowse link 1 143,443,300 143,535,579 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitlg KIT ligand JBrowse link 7 42,269,784 42,351,054 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm2 minichromosome maintenance complex component 2 JBrowse link 4 120,825,699 120,840,221 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmxl2 Dmx-like 2 JBrowse link 8 58,932,575 59,077,788 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc44a4 solute carrier family 44, member 4 JBrowse link 20 4,593,389 4,609,641 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde1c phosphodiesterase 1C JBrowse link 4 86,359,762 86,925,044 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      auditory system disease 662
        inner ear disease 466
          sensorineural hearing loss 428
            autosomal dominant nonsyndromic deafness 51
              Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
              Autosomal Dominant Deafness 4 1
              autosomal dominant auditory neuropathy 1 1
              autosomal dominant nonsyndromic deafness 1 1
              autosomal dominant nonsyndromic deafness 10 1
              autosomal dominant nonsyndromic deafness 11 1
              autosomal dominant nonsyndromic deafness 12 1
              autosomal dominant nonsyndromic deafness 13 1
              autosomal dominant nonsyndromic deafness 15 1
              autosomal dominant nonsyndromic deafness 16 5
              autosomal dominant nonsyndromic deafness 17 1
              autosomal dominant nonsyndromic deafness 18 0
              autosomal dominant nonsyndromic deafness 20 1
              autosomal dominant nonsyndromic deafness 21 0
              autosomal dominant nonsyndromic deafness 22 1
              autosomal dominant nonsyndromic deafness 23 1
              autosomal dominant nonsyndromic deafness 24 0
              autosomal dominant nonsyndromic deafness 25 2
              autosomal dominant nonsyndromic deafness 27 1
              autosomal dominant nonsyndromic deafness 28 1
              autosomal dominant nonsyndromic deafness 2A 1
              autosomal dominant nonsyndromic deafness 2B 1
              autosomal dominant nonsyndromic deafness 30 0
              autosomal dominant nonsyndromic deafness 31 0
              autosomal dominant nonsyndromic deafness 33 0
              autosomal dominant nonsyndromic deafness 34 1
              autosomal dominant nonsyndromic deafness 36 1
              autosomal dominant nonsyndromic deafness 3A 1
              autosomal dominant nonsyndromic deafness 3B 1
              autosomal dominant nonsyndromic deafness 40 1
              autosomal dominant nonsyndromic deafness 41 1
              autosomal dominant nonsyndromic deafness 43 0
              autosomal dominant nonsyndromic deafness 44 1
              autosomal dominant nonsyndromic deafness 47 0
              autosomal dominant nonsyndromic deafness 48 1
              autosomal dominant nonsyndromic deafness 49 0
              autosomal dominant nonsyndromic deafness 4A 2
              autosomal dominant nonsyndromic deafness 4B 1
              autosomal dominant nonsyndromic deafness 5 1
              autosomal dominant nonsyndromic deafness 50 1
              autosomal dominant nonsyndromic deafness 51 1
              autosomal dominant nonsyndromic deafness 52 1
              autosomal dominant nonsyndromic deafness 53 0
              autosomal dominant nonsyndromic deafness 54 0
              autosomal dominant nonsyndromic deafness 56 3
              autosomal dominant nonsyndromic deafness 58 0
              autosomal dominant nonsyndromic deafness 59 0
              autosomal dominant nonsyndromic deafness 6 1
              autosomal dominant nonsyndromic deafness 64 1
              autosomal dominant nonsyndromic deafness 65 1
              autosomal dominant nonsyndromic deafness 66 1
              autosomal dominant nonsyndromic deafness 67 1
              autosomal dominant nonsyndromic deafness 68 1
              autosomal dominant nonsyndromic deafness 69 1
              autosomal dominant nonsyndromic deafness 7 0
              autosomal dominant nonsyndromic deafness 70 1
              autosomal dominant nonsyndromic deafness 71 1
              autosomal dominant nonsyndromic deafness 72 1
              autosomal dominant nonsyndromic deafness 73 1
              autosomal dominant nonsyndromic deafness 74 1
              autosomal dominant nonsyndromic deafness 9 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  Deafness 261
                    nonsyndromic deafness 156
                      autosomal dominant nonsyndromic deafness 51
                        Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
                        Autosomal Dominant Deafness 4 1
                        autosomal dominant auditory neuropathy 1 1
                        autosomal dominant nonsyndromic deafness 1 1
                        autosomal dominant nonsyndromic deafness 10 1
                        autosomal dominant nonsyndromic deafness 11 1
                        autosomal dominant nonsyndromic deafness 12 1
                        autosomal dominant nonsyndromic deafness 13 1
                        autosomal dominant nonsyndromic deafness 15 1
                        autosomal dominant nonsyndromic deafness 16 5
                        autosomal dominant nonsyndromic deafness 17 1
                        autosomal dominant nonsyndromic deafness 18 0
                        autosomal dominant nonsyndromic deafness 20 1
                        autosomal dominant nonsyndromic deafness 21 0
                        autosomal dominant nonsyndromic deafness 22 1
                        autosomal dominant nonsyndromic deafness 23 1
                        autosomal dominant nonsyndromic deafness 24 0
                        autosomal dominant nonsyndromic deafness 25 2
                        autosomal dominant nonsyndromic deafness 27 1
                        autosomal dominant nonsyndromic deafness 28 1
                        autosomal dominant nonsyndromic deafness 2A 1
                        autosomal dominant nonsyndromic deafness 2B 1
                        autosomal dominant nonsyndromic deafness 30 0
                        autosomal dominant nonsyndromic deafness 31 0
                        autosomal dominant nonsyndromic deafness 33 0
                        autosomal dominant nonsyndromic deafness 34 1
                        autosomal dominant nonsyndromic deafness 36 1
                        autosomal dominant nonsyndromic deafness 3A 1
                        autosomal dominant nonsyndromic deafness 3B 1
                        autosomal dominant nonsyndromic deafness 40 1
                        autosomal dominant nonsyndromic deafness 41 1
                        autosomal dominant nonsyndromic deafness 43 0
                        autosomal dominant nonsyndromic deafness 44 1
                        autosomal dominant nonsyndromic deafness 47 0
                        autosomal dominant nonsyndromic deafness 48 1
                        autosomal dominant nonsyndromic deafness 49 0
                        autosomal dominant nonsyndromic deafness 4A 2
                        autosomal dominant nonsyndromic deafness 4B 1
                        autosomal dominant nonsyndromic deafness 5 1
                        autosomal dominant nonsyndromic deafness 50 1
                        autosomal dominant nonsyndromic deafness 51 1
                        autosomal dominant nonsyndromic deafness 52 1
                        autosomal dominant nonsyndromic deafness 53 0
                        autosomal dominant nonsyndromic deafness 54 0
                        autosomal dominant nonsyndromic deafness 56 3
                        autosomal dominant nonsyndromic deafness 58 0
                        autosomal dominant nonsyndromic deafness 59 0
                        autosomal dominant nonsyndromic deafness 6 1
                        autosomal dominant nonsyndromic deafness 64 1
                        autosomal dominant nonsyndromic deafness 65 1
                        autosomal dominant nonsyndromic deafness 66 1
                        autosomal dominant nonsyndromic deafness 67 1
                        autosomal dominant nonsyndromic deafness 68 1
                        autosomal dominant nonsyndromic deafness 69 1
                        autosomal dominant nonsyndromic deafness 7 0
                        autosomal dominant nonsyndromic deafness 70 1
                        autosomal dominant nonsyndromic deafness 71 1
                        autosomal dominant nonsyndromic deafness 72 1
                        autosomal dominant nonsyndromic deafness 73 1
                        autosomal dominant nonsyndromic deafness 74 1
                        autosomal dominant nonsyndromic deafness 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.