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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked nonsyndromic deafness
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Accession:DOID:0050566 term browser browse the term
Definition:A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)
Synonyms:exact_synonym: X-linked deafness
 xref: OMIM:PS304500;   ORDO:90625
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
X-linked nonsyndromic deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Deafness, X-linked ClinVar NCBI chr  X:40,029,200...40,086,870
Ensembl chr  X:40,030,248...40,086,870
JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Deafness, X-linked 1
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL
DNA:missense mutation:exon:p.G306E (c.917G>A) (human)
OMIM
ClinVar
PMID:8968763, PMID:10503584, PMID:15240907, PMID:20021999, PMID:24033266, PMID:24528855, PMID:25182139, PMID:25741868, PMID:28492532, PMID:25785835 RGD:11061884 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
ClinVar Annotator: match by term: Deafness, X-linked 2
CTD
ClinVar
PMID:1218943, PMID:1693158, PMID:8789457, PMID:9139825, PMID:9336442, PMID:9393973, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:10218527, PMID:10376574, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10830906, PMID:10874298, PMID:10905664, PMID:10982180, PMID:11073548, PMID:11216656, PMID:11313763, PMID:11439000, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11935342, PMID:11968091, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12560944, PMID:12562518, PMID:12746422, PMID:12786758, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15700112, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16840571, PMID:16864573, PMID:16950989, PMID:16952406, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18941476, PMID:18983339, PMID:18987669, PMID:18988928, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19366456, PMID:19371219, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20981092, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22695344, PMID:22701767, PMID:22796187, PMID:22808909, PMID:22975760, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24529908, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26467025, PMID:26553399, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27481527, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2
ClinVar Annotator: match by OMIM:304400
OMIM
ClinVar
PMID:1783396, PMID:7581392, PMID:7839145, PMID:9298820, PMID:23076972, PMID:23606368, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29287890 NCBI chr  X:82,143,789...82,145,066
Ensembl chr  X:82,143,789...82,145,066
JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Deafness, X-linked 4
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8872482, PMID:21549336, PMID:21549342, PMID:22911656, PMID:25741868 NCBI chr  X:40,029,200...40,086,870
Ensembl chr  X:40,030,248...40,086,870
JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar
OMIM
PMID:16816020, PMID:25741868, PMID:25986071, PMID:28492532 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020, PMID:25741868, PMID:25986071, PMID:28492532 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
X-linked deafness 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by OMIM:300914 OMIM
ClinVar
PMID:23714752 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO OMIM NCBI chr  X:106,357,240...106,363,455
Ensembl chr  X:106,360,393...106,363,300
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      auditory system disease 754
        inner ear disease 527
          sensorineural hearing loss 489
            X-linked nonsyndromic deafness 9
              X-linked deafness 1 1
              X-linked deafness 2 3
              X-linked deafness 3 0
              X-linked deafness 4 1
              X-linked deafness 5 2
              X-linked deafness 6 1
              X-linked deafness 7 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    nonsyndromic deafness 168
                      X-linked nonsyndromic deafness 9
                        X-linked deafness 1 1
                        X-linked deafness 2 3
                        X-linked deafness 3 0
                        X-linked deafness 4 1
                        X-linked deafness 5 2
                        X-linked deafness 6 1
                        X-linked deafness 7 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.