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: blindness
Accession: DOID:1432
browse the term
Definition: An eye disease characterized by a lack or loss of vision. (DO)
Synonyms: exact_synonym: Complete Blindness; Hysterical Blindness; acquired blindness; amauroses; amaurosis; legal blindness; monocular blindness; transient blindness; vision impairment; vision loss
narrow_synonym: antidepressant-induced visual impairment
primary_id: MESH:D001766
xref: EFO:0006323 ; ICD10CM:H54 ; ICD9CM:369
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCA4
ATP binding cassette subfamily A member 4
IAGP
ClinVar Annotator: match by term: Legal blindness
ClinVar
PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 More...
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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AIPL1
aryl hydrocarbon receptor interacting protein like 1
susceptibility
IAGP
RGD
PMID:10873396
RGD:1599003
NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
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AQP4
aquaporin 4
IDA
associated with Multiple Sclerosis, Relapsing-Remitting;
RGD
PMID:17702782
RGD:8696024
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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ARV1
ARV1 homolog, fatty acid homeostasis modulator
IAGP
ClinVar Annotator: match by term: Blindness
ClinVar
PMID:25558065 PMID:25741868 PMID:27270415
NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
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ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15114530
NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
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CEP290
centrosomal protein 290
IAGP
ClinVar Annotator: match by term: Blindness
ClinVar
PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 PMID:21866095 PMID:23188109 PMID:25525159 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29398085 PMID:31091803 PMID:31734136 More...
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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EFEMP1
EGF containing fibulin extracellular matrix protein 1
IAGP
ClinVar Annotator: match by term: Blindness
ClinVar
PMID:25741868
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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LCA5
lebercilin LCA5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17546029
NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
IAGP
ClinVar Annotator: match by term: Blindness
ClinVar
PMID:25741868
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MYO15A
myosin XVA
induces
ISO
DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
RGD
PMID:21479269
RGD:150429616
NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
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RPE65
retinoid isomerohydrolase RPE65
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16150724 PMID:16226919
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954
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SLC7A14
solute carrier family 7 member 14
ISS
MouseDO
NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075
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USH2A
usherin
IAGP
ClinVar Annotator: match by term: Legal blindness
ClinVar
PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 PMID:18273898 PMID:20513143 PMID:21569298 PMID:24033266 PMID:24498627 PMID:24944099 PMID:25575603 PMID:25741868 PMID:26927203 PMID:27460420 PMID:28492532 More...
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:23093773
RGD:11075234
NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VSX2
visual system homeobox 2
susceptibility
IAGP
microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P
RGD
PMID:10932181
RGD:734779
NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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ATF6
activating transcription factor 6
IAGP
ClinVar Annotator: match by term: Achromatopsia
ClinVar
PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 PMID:28041643 PMID:28492532 More...
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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CABP4
calcium binding protein 4
IAGP
ClinVar Annotator: match by term: Achromatopsia
ClinVar
PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 More...
NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
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CNGA3
cyclic nucleotide gated channel subunit alpha 3
IAGP
ClinVar Annotator: match by term: Achromatopsia
ClinVar
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 PMID:17265047 PMID:17576681 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20079539 PMID:20088482 PMID:20238023 PMID:20506298 PMID:20549516 PMID:21778272 PMID:22995991 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24903488 PMID:25168900 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26992781 PMID:27820752 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29053603 PMID:30418171 PMID:30653986 PMID:30682209 More...
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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CNGB3
cyclic nucleotide gated channel subunit beta 3
IAGP
ClinVar Annotator: match by term: Achromatopsia
ClinVar
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12187429 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16199547 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:20079539 PMID:20301591 PMID:22264887 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25326637 PMID:25474149 PMID:25525159 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:26992781 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30718709 PMID:31456290 PMID:32860008 PMID:32869108 PMID:33546218 More...
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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GNAT2
G protein subunit alpha transducin 2
IAGP ISS
ClinVar Annotator: match by term: Achromatopsia
ClinVar MouseDO
PMID:25741868
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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OPN1MW
opsin 1, medium wave sensitive
IAGP
ClinVar Annotator: match by term: Achromatopsia
ClinVar
PMID:25741868
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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PDE6C
phosphodiesterase 6C
IAGP ISS
ClinVar Annotator: match by term: Achromatopsia
ClinVar MouseDO
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 PMID:19887631 PMID:23776498 PMID:25741868 PMID:26103963 PMID:28041643 PMID:28492532 PMID:28704108 PMID:30080950 PMID:33546218 More...
NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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CNGA3
cyclic nucleotide gated channel subunit alpha 3
IAGP
DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
RGD
PMID:18521937
RGD:9068452
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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CNGB3
cyclic nucleotide gated channel subunit beta 3
treatment
IAGP IMP ISO
DNA:deletion: :c.1148delC (human)
RGD
PMID:17265047 PMID:21576125 PMID:21576125
RGD:9068446 , RGD:9068450 , RGD:9068450
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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CNGA3
cyclic nucleotide gated channel subunit alpha 3
IAGP
ClinVar Annotator: match by term: Achromatopsia 2 ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar OMIM
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 PMID:15712225 PMID:15743887 PMID:15980212 PMID:16199547 PMID:16961972 PMID:17265047 PMID:17576681 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20079539 PMID:20088482 PMID:20238023 PMID:20506298 PMID:20549516 PMID:21268679 PMID:21778272 PMID:21901789 PMID:21912902 PMID:22995991 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24676353 PMID:24903488 PMID:24906859 PMID:25168900 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26106334 PMID:26407004 PMID:26493561 PMID:26992781 PMID:27208204 PMID:27820752 PMID:28041643 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29053603 PMID:29099798 PMID:29165669 PMID:30289319 PMID:30337596 PMID:30653986 PMID:30682209 PMID:32783370 PMID:33546218 More...
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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CNGB3
cyclic nucleotide gated channel subunit beta 3
IAGP
ClinVar Annotator: match by term: Achromatopsia 3 ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar OMIM
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12187429 PMID:12357335 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15223812 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16199547 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:19592100 PMID:20079539 PMID:20301591 PMID:20574029 PMID:22264887 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25474149 PMID:25525159 PMID:25558076 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:26992781 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30337596 PMID:30718709 PMID:32860008 PMID:33546218 More...
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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GNAT2
G protein subunit alpha transducin 2
IAGP
ClinVar Annotator: match by term: Achromatopsia 4
ClinVar OMIM
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 PMID:21107338 PMID:25741868 PMID:27208204 PMID:28492532 PMID:31058429 More...
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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PDE6C
phosphodiesterase 6C
IAGP
ClinVar Annotator: match by term: Achromatopsia 5
ClinVar
PMID:16199547 PMID:19615668 PMID:19887631 PMID:20301591 PMID:23776498 PMID:25741868 PMID:26103963 PMID:28492532 PMID:30080950 More...
NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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ATF6
activating transcription factor 6
IAGP
ClinVar Annotator: match by term: Achromatopsia 7
ClinVar OMIM
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 PMID:28028229 PMID:28492532 More...
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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MMP1
matrix metallopeptidase 1
IDA
RGD
PMID:15073384
RGD:1582361
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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PPP1R15A
protein phosphatase 1 regulatory subunit 15A
ISO
mRNA:increased expression:neuroretina (mouse)
RGD
PMID:17975099
RGD:9999160
NCBI chr19:48,872,421...48,876,058
Ensembl chr19:48,872,212...48,876,059
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PITX2
paired like homeodomain 2
IAGP
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human)
RGD
PMID:17701896
RGD:12910562
NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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PRPS1
phosphoribosyl pyrophosphate synthetase 1
IAGP
ClinVar Annotator: match by term: Arts syndrome ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
ClinVar OMIM
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
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WFS1
wolframin ER transmembrane glycoprotein
IAGP
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar OMIM
PMID:10521293 PMID:10679252 PMID:11244483 PMID:11295831 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17603484 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29632382 PMID:30311386 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31600780 PMID:32219690 PMID:32567228 PMID:33879153 PMID:34746052 More...
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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OPN1SW
opsin 1, short wave sensitive
IAGP
ClinVar Annotator: match by term: Tritanopia
ClinVar OMIM
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25605338 PMID:25741868 PMID:28492532 More...
NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794
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OPN1LW
opsin 1, long wave sensitive
IAGP
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar OMIM
PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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OPN1MW
opsin 1, medium wave sensitive
IAGP
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked ClinVar Annotator: match by term: Blue cone monochromacy ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 PMID:19421413 PMID:20579627 More...
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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OPSIN-LCR
opsin locus control region
IAGP
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type
ClinVar
NCBI chr X:154,137,727...154,144,286
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ATF6
activating transcription factor 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26029869
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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BDNF
brain derived neurotrophic factor
susceptibility
IAGP
associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human)
RGD
PMID:21640793
RGD:8655850
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CNGA3
cyclic nucleotide gated channel subunit alpha 3
IAGP EXP
ClinVar Annotator: match by term: Color vision defect CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30418171 PMID:11536077 More...
RGD:734792
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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CNGB3
cyclic nucleotide gated channel subunit beta 3
susceptibility
IAGP EXP
DNA:mutations CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30418171 PMID:10958649
RGD:1600870
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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DMD
dystrophin
IAGP
ClinVar Annotator: match by term: Color vision defect
ClinVar
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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GNAT2
G protein subunit alpha transducin 2
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12077706 PMID:12077706
RGD:1599034
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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PDE6H
phosphodiesterase 6H
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25739440
NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
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BTK
Bruton tyrosine kinase
IAGP
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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TIMM8A
translocase of inner mitochondrial membrane 8A
IAGP EXP
DNA:mutation:intron:IVS1-23A>C(human) ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:exon:116delT(Q38fsX64)(human) DNA:deletion:cds:108delG(human)
ClinVar CTD OMIM RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:24033266 PMID:25741868 PMID:15710860 PMID:17471106 PMID:11601506 More...
RGD:13209130 , RGD:13209136 , RGD:13209134
NCBI chr X:101,345,661...101,348,742
Ensembl chr X:101,345,661...101,348,742
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FZD4
frizzled class receptor 4
ISS IAGP
OMIM:310600 ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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NDP
norrin cystine knot growth factor NDP
IAGP
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar OMIM
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7627181 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8790105 PMID:8990009 PMID:9143918 PMID:9382152 PMID:10484772 PMID:11748312 PMID:14635119 PMID:15776010 PMID:16970763 PMID:17334993 PMID:20340138 PMID:20385941 PMID:22563645 PMID:22786811 PMID:23141577 PMID:25711638 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30452590 More...
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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NDP-AS1
NDP antisense RNA 1
IAGP
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7627181 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8790105 PMID:8990009 PMID:9143918 PMID:9382152 PMID:10484772 PMID:11748312 PMID:14635119 PMID:15776010 PMID:16970763 PMID:17334993 PMID:20340138 PMID:20385941 PMID:22563645 PMID:22786811 PMID:23141577 PMID:25711638 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30452590 More...
NCBI chr X:43,949,732...43,971,552
Ensembl chr X:43,949,732...43,971,582
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PRSS23
serine protease 23
IAGP
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
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TSPAN12
tetraspanin 12
IAGP
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar
PMID:25250762
NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
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OPN1LW
opsin 1, long wave sensitive
IAGP
ClinVar Annotator: match by term: Protan defect
OMIM ClinVar
PMID:8666378 PMID:12051694 PMID:15094734 PMID:25741868
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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OPN1MW
opsin 1, medium wave sensitive
IAGP
ClinVar Annotator: match by term: Colorblindness, partial, deutan series ClinVar Annotator: match by term: DEUTERANOPIA
ClinVar OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 PMID:12626747 PMID:15094734 PMID:19421413 More...
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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OPN1MW2
opsin 1, medium wave sensitive 2
IAGP
ClinVar Annotator: match by term: Deuteranopia
ClinVar
PMID:25741868
NCBI chr X:154,219,756...154,233,286
Ensembl chr X:154,219,756...154,233,286
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C10orf105
chromosome 10 open reading frame 105
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
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CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:24033266 PMID:25474345 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27018795 PMID:28492532 PMID:30029624 PMID:30718709 More...
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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HARS1
histidyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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MT-TS2
mitochondrially encoded tRNA-Ser (AGU/C) 2
IAGP
ClinVar Annotator: match by term: Rp21
ClinVar
PMID:9792552 PMID:10090882
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MYO7A
myosin VIIA
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:24033266 PMID:28492532
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:28492532
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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PSAP
prosaposin
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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USH1C
USH1 protein network component harmonin
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
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USH1G
USH1 protein network component sans
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
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USH2A
usherin
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:28492532
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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USH2A-AS1
USH2A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:28492532
NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
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VSIR
V-set immunoregulatory receptor
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520
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WHRN
whirlin
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
ClinVar
PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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ANKHD1
ankyrin repeat and KH domain containing 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,401,833...140,539,849
Ensembl chr 5:140,401,814...140,539,856
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ANKHD1-EIF4EBP3
ANKHD1-EIF4EBP3 readthrough
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,401,833...140,549,576
Ensembl chr 5:140,401,908...140,549,569
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APBB3
amyloid beta precursor protein binding family B member 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,558,268...140,564,598
Ensembl chr 5:140,558,268...140,564,781
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BRD8
bromodomain containing 8
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,139,770...138,178,630
Ensembl chr 5:138,139,770...138,178,953
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CD14
CD14 molecule
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CDC23
cell division cycle 23
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,187,650...138,213,323
Ensembl chr 5:138,187,650...138,213,343
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CDC25C
cell division cycle 25C
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
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CTNNA1
catenin alpha 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
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CXXC5
CXXC finger protein 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,647,299...139,683,882
Ensembl chr 5:139,647,299...139,683,882
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CYSTM1
cysteine rich transmembrane module containing 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,175,188...140,243,789
Ensembl chr 5:140,175,156...140,282,052
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DIAPH1
diaphanous related formin 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar OMIM
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25558065 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:28492532 PMID:30311386 PMID:30896630 PMID:35307828 More...
NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
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DNAJC18
DnaJ heat shock protein family (Hsp40) member C18
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,410,203...139,439,525
Ensembl chr 5:139,408,588...139,444,491
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DND1
DND microRNA-mediated repression inhibitor 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576
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ECSCR
endothelial cell surface expressed chemotaxis and apoptosis regulator
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,448,560...139,462,743
Ensembl chr 5:139,448,560...139,462,743
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EGR1
early growth response 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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EIF4EBP3
eukaryotic translation initiation factor 4E binding protein 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,547,662...140,549,576
Ensembl chr 5:140,547,662...140,549,576
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ETF1
eukaryotic translation termination factor 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,506,095...138,543,236
Ensembl chr 5:138,506,095...138,543,236
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FAM13B
family with sequence similarity 13 member B
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:137,937,960...138,052,178
Ensembl chr 5:137,937,960...138,051,961
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FAM53C
family with sequence similarity 53 member C
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,337,557...138,349,729
Ensembl chr 5:138,331,935...138,349,729
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GFRA3
GDNF family receptor alpha 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,252,380...138,274,621
Ensembl chr 5:138,252,380...138,274,621
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HARS1
histidyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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HARS2
histidyl-tRNA synthetase 2, mitochondrial
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305
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HBEGF
heparin binding EGF like growth factor
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
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HNRNPA0
heterogeneous nuclear ribonucleoprotein A0
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:137,745,651...137,754,363
Ensembl chr 5:137,745,651...137,754,363
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HSPA9
heat shock protein family A (Hsp70) member 9
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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IGIP
IgA inducing protein
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,125,937...140,129,392
Ensembl chr 5:140,125,937...140,129,392
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IK
IK cytokine
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,647,829...140,662,480
Ensembl chr 5:140,647,058...140,662,480
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KDM3B
lysine demethylase 3B
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
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KIF20A
kinesin family member 20A
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723
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KLHL3
kelch like family member 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089
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LRRTM2
leucine rich repeat transmembrane neuronal 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,868,921...138,875,335
Ensembl chr 5:138,868,921...138,875,368
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MATR3
matrin 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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MYOT
myotilin
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
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MZB1
marginal zone B and B1 cell specific protein
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,387,467...139,389,913
Ensembl chr 5:139,387,467...139,390,081
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NDUFA2
NADH:ubiquinone oxidoreductase subunit A2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
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NME5
NME/NM23 family member 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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NRG2
neuregulin 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,846,781...140,043,299
Ensembl chr 5:139,846,779...140,043,299
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PAIP2
poly(A) binding protein interacting protein 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,341,854...139,369,717
Ensembl chr 5:139,341,587...139,369,720
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PCDHA1
protocadherin alpha 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,786,136...141,012,347
Ensembl chr 5:140,786,136...141,012,347
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PCDHA10
protocadherin alpha 10
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,855,897...141,012,347
Ensembl chr 5:140,855,883...141,012,347
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PCDHA11
protocadherin alpha 11
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,867,513...141,012,347
Ensembl chr 5:140,868,183...141,012,347
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PCDHA12
protocadherin alpha 12
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,875,308...141,012,347
Ensembl chr 5:140,875,302...141,012,347
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PCDHA13
protocadherin alpha 13
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,882,124...141,012,347
Ensembl chr 5:140,882,124...141,012,347
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PCDHA2
protocadherin alpha 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,794,852...141,012,347
Ensembl chr 5:140,794,852...141,012,347
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PCDHA3
protocadherin alpha 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,801,057...141,012,347
Ensembl chr 5:140,801,028...141,012,347
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PCDHA4
protocadherin alpha 4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,807,068...141,012,347
Ensembl chr 5:140,806,929...141,012,347
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PCDHA5
protocadherin alpha 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,821,613...141,012,347
Ensembl chr 5:140,821,604...141,012,347
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PCDHA6
protocadherin alpha 6
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,827,960...141,012,347
Ensembl chr 5:140,827,958...141,012,347
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PCDHA7
protocadherin alpha 7
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,834,269...141,012,347
Ensembl chr 5:140,834,248...141,012,347
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PCDHA8
protocadherin alpha 8
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,841,187...141,012,347
Ensembl chr 5:140,841,187...141,012,347
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PCDHA9
protocadherin alpha 9
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,847,772...141,012,347
Ensembl chr 5:140,847,772...141,012,347
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PCDHA@
protocadherin alpha cluster, complex locus
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,786,136...141,012,344
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PCDHAC1
protocadherin alpha subfamily C, 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,926,299...141,012,347
Ensembl chr 5:140,926,299...141,012,347
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PCDHAC2
protocadherin alpha subfamily C, 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,966,476...141,012,347
Ensembl chr 5:140,966,470...141,012,347
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PCDHB1
protocadherin beta 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,051,374...141,059,346
Ensembl chr 5:141,051,374...141,059,346
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PCDHB10
protocadherin beta 10
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,192,353...141,195,647
Ensembl chr 5:141,192,353...141,195,647
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PCDHB11
protocadherin beta 11
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,199,627...141,203,779
Ensembl chr 5:141,199,610...141,203,779
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PCDHB12
protocadherin beta 12
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,208,719...141,212,571
Ensembl chr 5:141,208,697...141,212,571
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PCDHB13
protocadherin beta 13
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,213,919...141,218,979
Ensembl chr 5:141,213,919...141,218,979
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PCDHB14
protocadherin beta 14
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,223,343...141,227,759
Ensembl chr 5:141,223,343...141,227,759
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PCDHB15
protocadherin beta 15
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,245,395...141,249,365
Ensembl chr 5:141,245,395...141,249,365
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PCDHB16
protocadherin beta 16
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,182,387...141,186,226
Ensembl chr 5:141,182,387...141,186,226
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PCDHB2
protocadherin beta 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,094,615...141,098,703
Ensembl chr 5:141,094,606...141,098,703
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PCDHB3
protocadherin beta 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,100,473...141,103,827
Ensembl chr 5:141,100,473...141,103,827
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PCDHB4
protocadherin beta 4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,121,818...141,125,623
Ensembl chr 5:141,121,818...141,125,623
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PCDHB5
protocadherin beta 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,135,206...141,138,615
Ensembl chr 5:141,135,206...141,138,615
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PCDHB6
protocadherin beta 6
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,150,057...141,153,287
Ensembl chr 5:141,150,057...141,153,287
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PCDHB7
protocadherin beta 7
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,172,644...141,176,383
Ensembl chr 5:141,172,644...141,176,383
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PCDHB8
protocadherin beta 8
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,177,790...141,180,539
Ensembl chr 5:141,177,790...141,180,539
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PCDHB9
protocadherin beta 9
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,187,161...141,191,541
Ensembl chr 5:141,187,127...141,191,541
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PCDHB@
protocadherin beta cluster
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,051,394...141,248,234
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PCDHGA1
protocadherin gamma subfamily A, 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,330,514...141,512,975
Ensembl chr 5:141,330,514...141,512,975
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PCDHGA10
protocadherin gamma subfamily A, 10
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,412,987...141,512,975
Ensembl chr 5:141,412,987...141,512,975
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PCDHGA11
protocadherin gamma subfamily A, 11
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,421,051...141,512,975
Ensembl chr 5:141,421,047...141,512,975
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PCDHGA12
protocadherin gamma subfamily A, 12
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,430,507...141,512,975
Ensembl chr 5:141,430,507...141,512,975
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PCDHGA2
protocadherin gamma subfamily A, 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,338,760...141,512,975
Ensembl chr 5:141,338,760...141,512,975
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PCDHGA3
protocadherin gamma subfamily A, 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,343,829...141,512,975
Ensembl chr 5:141,343,829...141,512,975
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PCDHGA4
protocadherin gamma subfamily A, 4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,355,021...141,512,975
Ensembl chr 5:141,355,021...141,512,975
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PCDHGA5
protocadherin gamma subfamily A, 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,364,162...141,512,975
Ensembl chr 5:141,364,162...141,512,975
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PCDHGA6
protocadherin gamma subfamily A, 6
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,373,891...141,512,975
Ensembl chr 5:141,373,891...141,512,975
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PCDHGA7
protocadherin gamma subfamily A, 7
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,382,742...141,512,975
Ensembl chr 5:141,382,739...141,512,975
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PCDHGA8
protocadherin gamma subfamily A, 8
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,392,633...141,512,975
Ensembl chr 5:141,390,157...141,512,975
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PCDHGA9
protocadherin gamma subfamily A, 9
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,402,778...141,512,975
Ensembl chr 5:141,402,778...141,512,975
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PCDHGB1
protocadherin gamma subfamily B, 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,350,099...141,512,975
Ensembl chr 5:141,350,099...141,512,975
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PCDHGB2
protocadherin gamma subfamily B, 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,359,994...141,512,975
Ensembl chr 5:141,359,994...141,512,975
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PCDHGB3
protocadherin gamma subfamily B, 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,370,242...141,512,975
Ensembl chr 5:141,370,242...141,512,975
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PCDHGB4
protocadherin gamma subfamily B, 4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,387,698...141,512,975
Ensembl chr 5:141,387,698...141,512,975
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PCDHGB5
protocadherin gamma subfamily B, 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,397,947...141,512,975
Ensembl chr 5:141,397,947...141,512,975
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PCDHGB6
protocadherin gamma subfamily B, 6
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,408,021...141,512,975
Ensembl chr 5:141,408,021...141,512,975
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PCDHGB7
protocadherin gamma subfamily B, 7
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,417,677...141,512,975
Ensembl chr 5:141,417,645...141,512,975
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PCDHGC3
protocadherin gamma subfamily C, 3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,475,966...141,512,975
Ensembl chr 5:141,475,947...141,512,977
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PCDHGC4
protocadherin gamma subfamily C, 4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975
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PCDHGC5
protocadherin gamma subfamily C, 5
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,489,081...141,512,975
Ensembl chr 5:141,489,081...141,512,975
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PFDN1
prefoldin subunit 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,245,035...140,303,101
Ensembl chr 5:140,245,035...140,303,113
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PKD2L2
polycystin 2 like 2, transient receptor potential cation channel
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:137,889,457...137,942,747
Ensembl chr 5:137,887,968...137,942,747
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PROB1
proline rich basic protein 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,390,592...139,395,104
Ensembl chr 5:139,390,592...139,395,104
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PSD2
pleckstrin and Sec7 domain containing 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,742,475...139,844,466
Ensembl chr 5:139,795,808...139,844,466
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PURA
purine rich element binding protein A
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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REEP2
receptor accessory protein 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969
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SIL1
SIL1 nucleotide exchange factor
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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SLC23A1
solute carrier family 23 member 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,367,196...139,385,676
Ensembl chr 5:139,367,196...139,384,553
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SLC25A2
solute carrier family 25 member 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,302,635...141,304,049
Ensembl chr 5:141,302,635...141,304,049
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SLC35A4
solute carrier family 35 member A4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,564,828...140,569,100
Ensembl chr 5:140,564,446...140,569,100
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SLC4A9
solute carrier family 4 member 9
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,360,194...140,375,141
Ensembl chr 5:140,360,194...140,375,141
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SNHG4
small nucleolar RNA host gene 4
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,273,752...139,283,184
Ensembl chr 5:139,274,102...139,284,899
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SPATA24
spermatogenesis associated 24
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,392,500...139,404,089
Ensembl chr 5:139,396,563...139,404,089
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SPOCK1
SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:136,975,298...137,499,326
Ensembl chr 5:136,975,298...137,598,379
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SRA1
steroid receptor RNA activator 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,550,067...140,558,093
Ensembl chr 5:140,537,340...140,557,677
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STING1
stimulator of interferon response cGAMP interactor 1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TAF7
TATA-box binding protein associated factor 7
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:141,318,490...141,320,784
Ensembl chr 5:141,259,884...141,320,784
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TMCO6
transmembrane and coiled-coil domains 6
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408
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UBE2D2
ubiquitin conjugating enzyme E2 D2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:139,526,240...139,628,434
Ensembl chr 5:139,526,431...139,628,434
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VTRNA1-1
vault RNA 1-1
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,711,276...140,711,373
Ensembl chr 5:140,711,275...140,711,373
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VTRNA1-2
vault RNA 1-2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,718,926...140,719,013
Ensembl chr 5:140,718,925...140,719,013
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VTRNA1-3
vault RNA 1-3
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,726,159...140,726,246
Ensembl chr 5:140,726,158...140,726,246
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WDR55
WD repeat domain 55
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,664,904...140,672,345
Ensembl chr 5:140,664,868...140,674,124
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WNT8A
Wnt family member 8A
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:138,077,367...138,092,365
Ensembl chr 5:138,083,990...138,092,365
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ZMAT2
zinc finger matrin-type 2
IAGP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
NCBI chr 5:140,700,447...140,706,686
Ensembl chr 5:140,698,680...140,706,686
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ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24154662 PMID:25133751 PMID:25404053 PMID:25741868 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26467025 PMID:26667666 PMID:26969326 PMID:27068579 PMID:27575413 PMID:28041643 PMID:28492532 PMID:29099798 PMID:30029497 PMID:30311386 PMID:30459346 PMID:31736247 PMID:32037395 PMID:32467589 PMID:32581362 PMID:33089500 PMID:33297549 PMID:35813073 More...
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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AL049830.3
novel transcript, antisense to COCH
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:30311386
NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808
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AL353784.1
novel transcript, antisense to PCDH15
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
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ARSG
arylsulfatase G
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:29300381
NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
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ATP6V1B1
ATPase H+ transporting V1 subunit B1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:30311386
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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BBS1
Bardet-Biedl syndrome 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 PMID:33532864 More...
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BPNT1
3'(2'), 5'-bisphosphate nucleotidase 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,057,482...220,089,788
Ensembl chr 1:220,057,482...220,090,462
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C10orf105
chromosome 10 open reading frame 105
IAGP
ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
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C1orf115
chromosome 1 open reading frame 115
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153
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CDH23
cadherin related 23
TAS IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome
ClinVar RGD
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26681316 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27460420 PMID:27583405 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32467589 PMID:32747562 PMID:32842620 PMID:32991204 PMID:34837038 PMID:35186827 PMID:20212494 More...
RGD:8547536
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar
PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
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CEP250
centrosomal protein 250
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:24780881 PMID:25741868
NCBI chr20:35,455,165...35,519,280
Ensembl chr20:35,455,164...35,519,280
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CIB2
calcium and integrin binding family member 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30311386 PMID:34837038 More...
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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CLRN1
clarin 1
TAS IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar RGD
PMID:7407589 PMID:15521980 PMID:17407589 PMID:17893653 PMID:19753315 PMID:21675857 PMID:22952768 PMID:23304067 PMID:24033266 PMID:25472526 PMID:25741868 PMID:25743179 PMID:26338283 PMID:27460420 PMID:28224992 PMID:28492532 PMID:29545425 PMID:31097578 PMID:31836858 PMID:31963381 PMID:35481838 PMID:23701314 More...
RGD:8547535
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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COCH
cochlin
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:30311386
NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
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CRX
cone-rod homeobox
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:25741868
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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DUSP10
dual specificity phosphatase 10
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089
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EPRS1
glutamyl-prolyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
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ESRRG
estrogen related receptor gamma
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755
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GPATCH2
G-patch domain containing 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090
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GUCA1A
guanylate cyclase activator 1A
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:11146732 PMID:28492532 PMID:30718709
NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
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HARS1
histidyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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HHIPL2
HHIP like 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:222,522,264...222,548,104
Ensembl chr 1:222,522,258...222,548,104
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HLX
H2.0 like homeobox
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,879,443...220,885,059
Ensembl chr 1:220,879,431...220,885,059
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HLX-AS1
HLX antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,832,763...220,880,140
Ensembl chr 1:220,832,763...220,880,140
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IARS2
isoleucyl-tRNA synthetase 2, mitochondrial
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
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LINC00210
long intergenic non-protein coding RNA 210
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,892,900...217,920,804
Ensembl chr 1:217,892,900...217,920,804
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LINC01352
long intergenic non-protein coding RNA 1352
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,829,255...220,832,429
Ensembl chr 1:220,829,255...220,832,429
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LINC01653
long intergenic non-protein coding RNA 1653
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,043,505...218,059,140
Ensembl chr 1:218,043,505...218,059,140
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LINC01655
long intergenic non-protein coding RNA 1655
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,827,666...221,840,666
Ensembl chr 1:221,819,842...221,840,717
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LINC01710
long intergenic non-protein coding RNA 1710
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,912,757...218,918,511
Ensembl chr 1:218,912,757...218,918,714
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LINC02257
long intergenic non-protein coding RNA 2257
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,913,645...221,978,520
Ensembl chr 1:221,880,981...221,978,523
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LINC02474
long intergenic non-protein coding RNA 2474
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,966,410...221,984,964
Ensembl chr 1:221,966,341...221,984,964
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LINC02779
long intergenic non-protein coding RNA 2779
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,483,165...220,487,618
Ensembl chr 1:220,485,104...220,487,558
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LINC02817
long intergenic non-protein coding RNA 2817
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,329,928...221,336,296
Ensembl chr 1:221,330,080...221,336,489
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LINC02869
long intergenic non-protein coding RNA 2869
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,510,095...218,525,978
Ensembl chr 1:218,459,265...218,525,978
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LOC107325941
1q41 HERV-mediated proximal recombination region
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,973,078...221,978,506
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LOC110121042
VISTA enhancer hs1257
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,034,090...218,035,156
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LOC111429604
FOXA motif-containing MPRA enhancer 201
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,715,591...221,715,735
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LOC111982869
Sharpr-MPRA regulatory region 2121
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:71,805,832...71,806,126
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LOC118142757
GUCA1ANB-GUCA1A readthrough
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:11146732 PMID:28492532 PMID:30718709
NCBI chr 6:42,155,406...42,180,056
Ensembl chr 6:42,155,406...42,181,338
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LOC120908907
Sharpr-MPRA regulatory region 1545
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,048,367...217,048,661
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LOC120908908
Sharpr-MPRA regulatory region 8131
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,459,927...218,460,221
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LOC120908909
Sharpr-MPRA regulatory region 297
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,661,087...219,661,381
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LOC120908910
Sharpr-MPRA regulatory region 12019
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,769,127...220,769,421
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LOC121725074
Sharpr-MPRA regulatory region 9893
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,928,587...219,928,881
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LOC122152296
Sharpr-MPRA regulatory region 8762
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16963483 PMID:19683999 PMID:20507924 PMID:22004887 PMID:22135276 PMID:24033266 PMID:25262649 PMID:25333064 PMID:25558175 PMID:25649381 PMID:25741868 PMID:25999674 PMID:26467025 PMID:26766544 PMID:27460420 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28981474 PMID:29196752 PMID:30245029 PMID:30718709 PMID:30872814 More...
NCBI chr 1:216,246,727...216,247,021
G
LOC122152297
Sharpr-MPRA regulatory region 11696
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,134,607...217,134,901
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LOC122152298
Sharpr-MPRA regulatory region 1921
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,453,727...217,454,021
G
LOC122152299
Sharpr-MPRA regulatory region 7160
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,554,847...217,555,141
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LOC122152300
Sharpr-MPRA regulatory region 6480
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,674,327...218,674,621
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LOC122152301
Sharpr-MPRA regulatory region 2527
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,330,747...219,331,041
G
LOC122152302
Sharpr-MPRA regulatory region 1437
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,516,027...220,516,321
G
LOC122152303
Sharpr-MPRA regulatory region 4850
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:221,634,627...221,634,921
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LYPLAL1
lysophospholipase like 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,173,878...219,445,496
Ensembl chr 1:219,173,869...219,212,865
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LYPLAL1-AS1
LYPLAL1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,435,158...219,557,324
Ensembl chr 1:219,409,039...219,459,369
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LYPLAL1-DT
LYPLAL1 divergent transcript
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,080,973...219,173,788
Ensembl chr 1:218,976,672...219,173,961
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MARK1
microtubule affinity regulating kinase 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,528,136...220,664,461
Ensembl chr 1:220,528,136...220,664,461
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MIR194-1
microRNA 194-1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,118,157...220,118,241
Ensembl chr 1:220,118,157...220,118,241
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MIR215
microRNA 215
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962
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MIR548F1
microRNA 548f-1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr10:54,607,874...54,607,957
Ensembl chr10:54,607,874...54,607,957
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MIR664A
microRNA 664a
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,200,538...220,200,619
Ensembl chr 1:220,200,538...220,200,619
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MTARC1
mitochondrial amidoxime reducing component 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,786,913...220,819,659
Ensembl chr 1:220,786,352...220,819,659
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MTARC2
mitochondrial amidoxime reducing component 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,748,322...220,784,815
Ensembl chr 1:220,748,225...220,784,815
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MYO7A
myosin VIIA
TAS IAGP EXP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:15965244 PMID:16199547 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29196752 PMID:29416772 PMID:29490346 PMID:29625443 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30459346 PMID:30718709 PMID:30881389 PMID:31054281 PMID:31266775 PMID:31456290 PMID:31479088 PMID:32097363 PMID:32428919 PMID:32747562 PMID:32860223 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:20212494 More...
RGD:8547536
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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PCDH15
protocadherin related 15
TAS IAGP EXP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:17576681 PMID:19309154 PMID:20301442 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27460420 PMID:27861356 PMID:28041643 PMID:28281779 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:20212494 More...
RGD:8547536
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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PROM1
prominin 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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PSAP
prosaposin
IAGP
ClinVar Annotator: match by term: Hallgren syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RRP15
ribosomal RNA processing 15 homolog
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,285,293...218,337,983
Ensembl chr 1:218,285,293...218,337,983
G
SERPINB6
serpin family B member 6
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:24033266 PMID:28492532 PMID:30311386
NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165
G
SLC30A10
solute carrier family 30 member 10
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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SNORA36B
small nucleolar RNA, H/ACA box 36B
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:220,200,546...220,200,676
Ensembl chr 1:220,200,546...220,200,676
G
SPATA17
spermatogenesis associated 17
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,631,344...217,871,696
Ensembl chr 1:217,631,324...217,871,696
G
SPATA17-AS1
SPATA17 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:217,781,198...217,785,120
Ensembl chr 1:217,781,198...217,785,120
G
TAF1A
TATA-box binding protein associated factor, RNA polymerase I subunit A
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933
G
TAF1A-AS1
TAF1A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:222,589,920...222,592,633
Ensembl chr 1:222,589,825...222,593,843
G
TGFB2
transforming growth factor beta 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
G
TGFB2-AS1
TGFB2 antisense RNA 1 (head to head)
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,344,196...218,345,678
Ensembl chr 1:218,344,190...218,346,036
G
TGFB2-OT1
TGFB2 overlapping transcript 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996
G
TRT-TGT2-1
tRNA-Thr (anticodon TGT) 2-1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:222,465,005...222,465,077
G
USH1C
USH1 protein network component harmonin
treatment
TAS IAGP IMP ISO
ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness DNA:mutations:cds:
ClinVar RGD
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25468891 PMID:25560255 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:20212494 PMID:23380860 PMID:20095043 PMID:14519688 PMID:11139240 More...
RGD:8547536 , RGD:8695937 , RGD:8695939 , RGD:8694458 , RGD:8694457
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
USH1G
USH1 protein network component sans
TAS IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar RGD
PMID:20212494
RGD:8547536
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
G
USH2A
usherin
susceptibility
TAS IAGP
ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher's syndrome ClinVar Annotator: match by term: Hallgren syndrome DNA:snps, insertion:exon, intron:multiple (human)
ClinVar RGD
PMID:1968399 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20440071 PMID:20507924 PMID:20591486 PMID:20596040 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:24033266 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24618324 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26629787 PMID:26633545 PMID:26667666 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27583663 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28130426 PMID:28157192 PMID:28224992 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28761320 PMID:28798898 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29142287 PMID:29196752 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29655801 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29953849 PMID:30029497 PMID:30190494 PMID:30245029 PMID:30311386 PMID:30337596 PMID:30543658 PMID:30718709 PMID:30796641 PMID:30826590 PMID:30872814 PMID:30948794 PMID:31047384 PMID:31144483 PMID:31152317 PMID:31213501 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31736247 PMID:31816670 PMID:31836858 PMID:31877679 PMID:31960602 PMID:31998945 PMID:32037395 PMID:32093671 PMID:32098976 PMID:32176120 PMID:32188678 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32675063 PMID:32707200 PMID:32893482 PMID:33089500 PMID:33111345 PMID:33124170 PMID:33576794 PMID:33749171 PMID:33781268 PMID:34130719 PMID:34148116 PMID:34203967 PMID:34416374 PMID:34426522 PMID:34638692 PMID:34948090 PMID:35266249 PMID:23701314 PMID:18452394 More...
RGD:8547535 , RGD:8547956
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
G
USH2A-AS1
USH2A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:10729113 PMID:10909849 PMID:15325563 PMID:16963483 PMID:18641288 PMID:19881469 PMID:20301442 PMID:20507924 PMID:20591486 PMID:21569298 PMID:21738395 PMID:22135276 PMID:23924366 PMID:24033266 PMID:24154662 PMID:24367894 PMID:25097241 PMID:25472526 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28981474 PMID:30245029 PMID:30718709 PMID:30826590 PMID:31047384 PMID:31144483 PMID:31429209 PMID:32093671 PMID:32098976 PMID:32675063 PMID:33111345 PMID:33124170 PMID:33576794 PMID:33781268 More...
NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
G
USH2A-AS2
USH2A antisense RNA 2
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:10729113 PMID:10909849 PMID:16199547 PMID:18273898 PMID:18641288 PMID:19683999 PMID:20507924 PMID:22135276 PMID:23591405 PMID:23737954 PMID:24033266 PMID:24944099 PMID:25097241 PMID:25356976 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28944237 PMID:29074561 PMID:29490346 PMID:30311386 PMID:31456290 PMID:31589614 PMID:31816670 PMID:32037395 PMID:32176120 PMID:32531858 PMID:32552793 PMID:32581362 PMID:32637036 PMID:33576794 PMID:33749171 PMID:34426522 PMID:34948090 More...
NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
G
WHRN
whirlin
IAGP
ClinVar Annotator: match by term: Hallgren syndrome
ClinVar
PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
G
ZC3H11B
zinc finger CCCH-type containing 11B
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:28041643
NCBI chr 1:219,608,012...219,613,105
Ensembl chr 1:219,608,012...219,613,105
G
ZDHHC24
zinc finger DHHC-type containing 24
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 PMID:33532864 More...
NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235
G
ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar
PMID:21569298 PMID:24033266 PMID:28492532
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
G
AL353784.1
novel transcript, antisense to PCDH15
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
G
C10orf105
chromosome 10 open reading frame 105
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:17576681 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
G
CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23767834 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25211151 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27068579 PMID:27460420 PMID:27583405 PMID:27610647 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:29625443 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32467589 PMID:32991204 PMID:33316915 PMID:34837038 PMID:35186827 More...
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:11138009 PMID:12075507 PMID:15537665 PMID:16199547 PMID:18429043 PMID:21940737 PMID:23804846 PMID:24033266 PMID:24416283 PMID:25472526 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
G
CIB2
calcium and integrin binding family member 2
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:18505454 PMID:20301442 PMID:23023331
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
G
ESPN
espin
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar
PMID:29572253
NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
G
LOC111982869
Sharpr-MPRA regulatory region 2121
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:11138009 PMID:16199547 PMID:21940737 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:71,805,832...71,806,126
G
MYO7A
myosin VIIA
IAGP ISS
DNA:insertion:CDS:c.2663_2664insA (human) ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar Annotator: match by term: Usher syndrome, type 1 OMIM:276900
ClinVar MouseDO RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10364543 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:12080385 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16786533 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22334370 PMID:22593002 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26469752 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28472130 PMID:28492532 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29196752 PMID:29416772 PMID:29490346 PMID:29625443 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30459346 PMID:30718709 PMID:30881389 PMID:31266775 PMID:31456290 PMID:31479088 PMID:32097363 PMID:32428919 PMID:32747562 PMID:32860223 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:15592175 More...
RGD:8694152
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
G
PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:17576681 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27058588 PMID:27208204 PMID:27460420 PMID:27610647 PMID:27766948 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:33090715 More...
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
G
PSAP
prosaposin
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
G
USH1C
USH1 protein network component harmonin
onset
IAGP
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human) ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar Annotator: match by term: Usher syndrome, type 1 DNA:mutation:cds: c.216G>A(human) DNA:deletion:exon:c.1220delG(human)
ClinVar RGD
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24498627 PMID:25356976 PMID:25468891 PMID:25560255 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:21487335 PMID:17407589 PMID:23251578 More...
RGD:8695918 , RGD:8695921 , RGD:8695919
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
USH1G
USH1 protein network component sans
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar
PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
G
USH2A
usherin
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 PMID:26927203 PMID:28041643 PMID:28492532 PMID:30245029 More...
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
G
USH2A-AS1
USH2A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar
PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26927203 PMID:28041643 PMID:28492532 PMID:30245029 More...
NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
G
C10orf105
chromosome 10 open reading frame 105
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
G
CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar Annotator: match by term: Usher syndrome, type 1B
ClinVar
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27068579 PMID:27460420 PMID:27583405 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32467589 PMID:32991204 PMID:34837038 PMID:35186827 More...
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar
PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
G
LOC111982869
Sharpr-MPRA regulatory region 2121
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:71,805,832...71,806,126
G
MYO7A
myosin VIIA
treatment
IAGP ISO IDA
DNA:mutations: :multiple ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar Annotator: match by term: Usher syndrome, type 1B DNA:nonsense mutation
ClinVar OMIM RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9171833 PMID:9259201 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:9843659 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:11391666 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29416772 PMID:29490346 PMID:29625443 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30881389 PMID:31054281 PMID:31266775 PMID:31456290 PMID:31479088 PMID:32097363 PMID:32428919 PMID:32747562 PMID:32860223 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:8900236 PMID:15965244 PMID:23991031 PMID:23991031 PMID:12112664 More...
RGD:8694135 , RGD:1581470 , RGD:8694151 , RGD:8694151 , RGD:8694137
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
G
PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:17576681 PMID:20301442 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27460420 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 More...
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
G
PSAP
prosaposin
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
G
USH1C
USH1 protein network component harmonin
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD ClinVar
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25468891 PMID:25560255 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 More...
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
USH1C
USH1 protein network component harmonin
IAGP EXP
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human) ClinVar Annotator: match by term: Usher syndrome type 1C ClinVar Annotator: match by term: Usher syndrome, type 1C CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:19297620 PMID:20095043 PMID:20142502 PMID:20146813 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:22581970 PMID:23251578 PMID:23967202 PMID:24033266 PMID:24154662 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24875298 PMID:25262649 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25788563 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30718709 PMID:31858762 PMID:32467589 PMID:10973247 More...
RGD:1600453
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
AL353784.1
novel transcript, antisense to PCDH15
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar
NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
G
C10orf105
chromosome 10 open reading frame 105
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar
PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27610647 PMID:28492532 PMID:28847902 PMID:30303587 PMID:30311386 PMID:31445392 More...
NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
G
CDH23
cadherin related 23
ISO IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar OMIM RGD
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27460420 PMID:27583405 PMID:27610647 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:29625443 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:31054281 PMID:31152317 PMID:31445392 PMID:31541171 PMID:31546658 PMID:32467589 PMID:32991204 PMID:34906502 PMID:35186827 PMID:11138008 More...
RGD:8662279
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:12075507 PMID:15537665 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30718709 More...
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
G
LOC111982869
Sharpr-MPRA regulatory region 2121
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:71,805,832...71,806,126
G
PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar OMIM
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19375528 PMID:20301442 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22815625 PMID:22981120 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:25999675 PMID:26467025 PMID:26872967 PMID:27460420 PMID:27610647 PMID:27766948 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28847902 PMID:29625443 PMID:30245029 PMID:30311386 PMID:30718709 More...
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
G
PSAP
prosaposin
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
G
VSIR
V-set immunoregulatory receptor
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:25741868
NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520
G
AL353784.1
novel transcript, antisense to PCDH15
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar
PMID:11398101 PMID:11487575 PMID:14570705 PMID:24033266 PMID:25741868 PMID:26166082 PMID:28492532 More...
NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
G
PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1F ClinVar Annotator: match by term: Usher syndrome type 1F ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF
ClinVar OMIM
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17277737 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19375528 PMID:19683999 PMID:20301442 PMID:20672374 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:22952768 PMID:22981120 PMID:23451239 PMID:23462753 PMID:23591405 PMID:23767834 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24705292 PMID:24831256 PMID:24853665 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25575603 PMID:25741868 PMID:26166082 PMID:26226137 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27058588 PMID:27068579 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27583663 PMID:27610647 PMID:27743452 PMID:27766948 PMID:27861356 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28559085 PMID:28847902 PMID:28900111 PMID:28968992 PMID:29625443 PMID:30029624 PMID:30054919 PMID:30245029 PMID:30311386 PMID:30459346 PMID:30718709 PMID:33090715 PMID:34416374 PMID:34744965 PMID:34751129 More...
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
G
PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1G
ClinVar
PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 PMID:15028842 PMID:20301442 PMID:22815625 PMID:24033266 PMID:24105371 PMID:25262649 PMID:25307757 PMID:25525159 PMID:25741868 PMID:27460420 PMID:28492532 More...
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
G
USH1G
USH1 protein network component sans
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar Annotator: match by term: USH1G-Related Disorders
OMIM ClinVar
PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 PMID:17576681 PMID:17896313 PMID:21044053 PMID:22135276 PMID:22219650 PMID:23591405 PMID:24033266 PMID:25255398 PMID:25741868 PMID:26467025 PMID:26878454 PMID:27068579 PMID:27353947 PMID:28224992 PMID:28492532 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30828346 PMID:31637240 PMID:33095980 More...
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
G
CIB2
calcium and integrin binding family member 2
IAGP EXP
ClinVar Annotator: match by term: Usher syndrome type 1J CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26226137 PMID:26445815 PMID:28492532 PMID:29112224 PMID:30303587 More...
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
G
ESPN
espin
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE 1M ClinVar Annotator: match by term: Usher syndrome, type 1M
OMIM ClinVar
PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29572253 More...
NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
G
ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24123792 PMID:25741868 PMID:26226137 PMID:26667666 PMID:28492532 PMID:29924869 PMID:30029497 PMID:30245029 PMID:31456290 PMID:31980526 PMID:32037395 PMID:32467589 More...
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
G
CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:25741868
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
LOC111982869
Sharpr-MPRA regulatory region 2121
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:25741868
NCBI chr10:71,805,832...71,806,126
G
MYO7A
myosin VIIA
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:25741868
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
G
USH1C
USH1 protein network component harmonin
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:25741868 PMID:30311386
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
USH2A
usherin
susceptibility
IAGP
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) ClinVar Annotator: match by term: Usher syndrome type 2 DNA:mutations: :multiple DNA:snp:intron:c.7595-2144A>G (human) DNA:insertion, deletions, snps:multiple (human) DNA:mutations:multiple (human)
ClinVar RGD
PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 PMID:12525556 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15823922 PMID:16199547 PMID:16963483 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18452394 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:20052763 PMID:20497194 PMID:20507924 PMID:20513143 PMID:21487335 PMID:21569298 PMID:21686329 PMID:21738395 PMID:22004887 PMID:22009552 PMID:22135276 PMID:23591405 PMID:23924366 PMID:24033266 PMID:24367894 PMID:24498627 PMID:24875298 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25211151 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25356976 PMID:25404053 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26629787 PMID:26927203 PMID:27032803 PMID:27160483 PMID:27318125 PMID:27344577 PMID:27460420 PMID:27596865 PMID:28041643 PMID:28130426 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29142287 PMID:29293505 PMID:29490346 PMID:29625443 PMID:29899460 PMID:29986705 PMID:30190494 PMID:30245029 PMID:30311386 PMID:30718709 PMID:30948794 PMID:31213501 PMID:31231422 PMID:31456290 PMID:31589614 PMID:32036094 PMID:32037395 PMID:32176120 PMID:32531858 PMID:32552793 PMID:32893482 PMID:33576794 PMID:34426522 PMID:35076463 PMID:15025721 PMID:12112664 PMID:22009552 PMID:18665195 PMID:17405132 More...
RGD:8547952 , RGD:8694137 , RGD:8547985 , RGD:8547965 , RGD:8547962
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
G
USH2A-AS1
USH2A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 PMID:28492532 PMID:35076463 More...
NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
G
USH2A-AS2
USH2A antisense RNA 2
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2
ClinVar
PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17576681 PMID:18273898 PMID:18641288 PMID:19683999 PMID:20507924 PMID:23591405 PMID:24033266 PMID:24944099 PMID:25097241 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26355662 PMID:28492532 PMID:29074561 PMID:29490346 PMID:30311386 PMID:31456290 PMID:31589614 PMID:32037395 PMID:32176120 PMID:32552793 PMID:33576794 PMID:34426522 More...
NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
G
ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2A
ClinVar
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
G
CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA
ClinVar
PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 PMID:24033266 PMID:25741868 PMID:27460420 PMID:28492532 More...
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
KCTD3
potassium channel tetramerization domain containing 3
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2A
ClinVar
PMID:21681106
NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807
G
LOC122152296
Sharpr-MPRA regulatory region 8762
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar
PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16963483 PMID:19683999 PMID:20507924 PMID:22004887 PMID:22135276 PMID:24033266 PMID:24938718 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25356976 PMID:25445212 PMID:25558175 PMID:25649381 PMID:25741868 PMID:25999674 PMID:26467025 PMID:26766544 PMID:27057829 PMID:27460420 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28981474 PMID:29196752 PMID:30245029 PMID:30718709 PMID:30872814 PMID:32188678 PMID:33105608 PMID:33111992 More...
NCBI chr 1:216,246,727...216,247,021
G
PDZD7
PDZ domain containing 7
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar Annotator: match by term: Usher syndrome, type 2A
OMIM ClinVar
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 PMID:29048736 More...
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
G
USH2A
usherin
susceptibility
IAGP EXP
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar Annotator: match by term: Usher syndrome, type 2A CTD Direct Evidence: marker/mechanism DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
ClinVar CTD OMIM RGD
PMID:1968399 PMID:2525289 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18484607 PMID:18641288 PMID:18665192 PMID:18665195 PMID:18723146 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20544672 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21228398 PMID:21487335 PMID:21569298 PMID:21593743 PMID:21681106 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23029027 PMID:23591405 PMID:23661368 PMID:23661369 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25373420 PMID:25375654 PMID:25388789 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26352687 PMID:26355662 PMID:26377068 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26747767 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26868535 PMID:26872967 PMID:26927203 PMID:26969326 PMID:26992781 PMID:27032803 PMID:27057829 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27353947 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27884173 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28118666 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28281779 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28704108 PMID:28714225 PMID:28761320 PMID:28798898 PMID:28838317 PMID:28894305 PMID:28912962 PMID:28944237 PMID:28981474 PMID:28984810 PMID:29068140 PMID:29074561 PMID:29099798 PMID:29142287 PMID:29151245 PMID:29178603 PMID:29196752 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29551606 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29953849 PMID:29986705 PMID:30029497 PMID:30073356 PMID:30081015 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390381 PMID:30459346 PMID:30543658 PMID:30691450 PMID:30718709 PMID:30733538 PMID:30826590 PMID:30870047 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31047384 PMID:31054281 PMID:31152317 PMID:31213501 PMID:31231422 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31541171 PMID:31589614 PMID:31674169 PMID:31699113 PMID:31736247 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31998945 PMID:32036094 PMID:32037395 PMID:32090030 PMID:32093671 PMID:32098976 PMID:32176120 PMID:32188678 PMID:32467589 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32646269 PMID:32675063 PMID:32707200 PMID:32747562 PMID:32767731 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33105608 PMID:33111345 PMID:33111992 PMID:33124170 PMID:33297549 PMID:33576794 PMID:33623043 PMID:33691693 PMID:33946315 PMID:34008892 PMID:34031601 PMID:34130719 PMID:34148116 PMID:34203883 PMID:34203967 PMID:34416374 PMID:34426522 PMID:34448047 PMID:34599368 PMID:34638692 PMID:34837038 PMID:34948090 PMID:35076463 PMID:35106950 PMID:35114279 PMID:10729113 PMID:9624053 More...
RGD:8547961 , RGD:8547987
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
G
USH2A-AS1
USH2A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar
PMID:9536098 PMID:9624053 PMID:10729113 PMID:10909849 PMID:11311042 PMID:15241801 PMID:15325563 PMID:15823922 PMID:16963483 PMID:17405132 PMID:17576681 PMID:18641288 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20301442 PMID:20507924 PMID:20591486 PMID:20613545 PMID:21147909 PMID:21569298 PMID:21738395 PMID:22004887 PMID:22009552 PMID:22135276 PMID:22952768 PMID:23591405 PMID:23924366 PMID:23967202 PMID:24033266 PMID:24154662 PMID:24265693 PMID:24367894 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25366773 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26467025 PMID:26856745 PMID:26927203 PMID:26969326 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28981474 PMID:30245029 PMID:30718709 PMID:30902645 PMID:31047384 PMID:31429209 PMID:31877679 PMID:32098976 PMID:32176120 PMID:33111345 PMID:33576794 PMID:34148116 PMID:35076463 More...
NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
G
USH2A-AS2
USH2A antisense RNA 2
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar
PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17085681 PMID:17576681 PMID:18273898 PMID:18641288 PMID:19683999 PMID:19737284 PMID:20507924 PMID:21593743 PMID:22004887 PMID:22135276 PMID:22334370 PMID:23591405 PMID:23737954 PMID:24033266 PMID:24938718 PMID:24944099 PMID:25097241 PMID:25356976 PMID:25388789 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26467025 PMID:26629787 PMID:26667666 PMID:26747767 PMID:26806561 PMID:26927203 PMID:26969326 PMID:27318125 PMID:27460420 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28944237 PMID:29074561 PMID:29490346 PMID:29588463 PMID:30311386 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31456290 PMID:31589614 PMID:31904091 PMID:32037395 PMID:32176120 PMID:32467589 PMID:32531858 PMID:32552793 PMID:32767731 PMID:33576794 PMID:33623043 PMID:34426522 PMID:34448047 PMID:34837038 PMID:34948090 More...
NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
G
ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar OMIM
PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18854872 PMID:19357116 PMID:19357117 PMID:20440071 PMID:21569298 PMID:21946352 PMID:22135276 PMID:22147658 PMID:22334370 PMID:22952768 PMID:23441107 PMID:23767834 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24154662 PMID:24498627 PMID:25133751 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25404053 PMID:25412400 PMID:25468891 PMID:25741868 PMID:25741869 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26467025 PMID:26667666 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27108799 PMID:27460420 PMID:27575413 PMID:27884173 PMID:28041643 PMID:28492532 PMID:29142287 PMID:29261713 PMID:29924869 PMID:30029497 PMID:30180840 PMID:30245029 PMID:30311386 PMID:31456290 PMID:32037395 PMID:32467589 PMID:32707200 PMID:32747562 PMID:32860008 PMID:33105617 More...
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
G
CNKSR1
connector enhancer of kinase suppressor of Ras 1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar
PMID:25741868
NCBI chr 1:26,177,491...26,189,884
Ensembl chr 1:26,177,484...26,189,884
G
CRYGC
crystallin gamma C
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828
G
FRAS1
Fraser extracellular matrix complex subunit 1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar
PMID:21900877 PMID:25741868 PMID:28492532
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
G
LOC100507443
uncharacterized LOC100507443
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 2:208,119,129...208,156,762
G
LOC123497934
Sharpr-MPRA regulatory region 3426
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2C
ClinVar
PMID:19357116
NCBI chr 5:90,983,092...90,983,386
G
PDZD7
PDZ domain containing 7
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
ClinVar OMIM
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 PMID:28492532 More...
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
G
SLC4A7
solute carrier family 4 member 7
ISS
OMIM:605472
MouseDO
NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,721...27,484,420
G
WDR36
WD repeat domain 36
IAGP
ClinVar Annotator: match by term: Usher syndrome type 2C
ClinVar
PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 PMID:28492532 More...
NCBI chr 5:111,092,348...111,130,502
Ensembl chr 5:111,092,321...111,130,502
G
WHRN
whirlin
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID ClinVar Annotator: match by term: Usher syndrome type 2D ClinVar Annotator: match by term: Usher syndrome, type 2D
ClinVar OMIM
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 PMID:20352026 PMID:21569298 PMID:21654738 PMID:22135276 PMID:22147658 PMID:23804846 PMID:24033266 PMID:25262649 PMID:25404053 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 PMID:30311386 More...
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
G
CLRN1
clarin 1
IAGP ISS
ClinVar Annotator: match by term: Usher Syndrome, Type III ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar Annotator: match by term: Usher syndrome, type 3
ClinVar MouseDO
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:20717163 PMID:21675857 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:35481838 More...
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
G
CLRN1-AS1
CLRN1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar
PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 PMID:18281613 PMID:19423712 PMID:19753315 PMID:22135276 PMID:22787034 PMID:24033266 PMID:25741868 PMID:26180195 PMID:28041643 PMID:28492532 PMID:30311386 More...
NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
G
HARS1
histidyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar
PMID:28492532
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
G
CLRN1
clarin 1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar OMIM RGD
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:26467025 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:35481838 PMID:12145752 More...
RGD:634439
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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CLRN1-AS1
CLRN1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar
PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 PMID:18281613 PMID:19423712 PMID:19753315 PMID:22135276 PMID:22787034 PMID:24033266 PMID:25741868 PMID:26180195 PMID:28041643 PMID:28492532 More...
NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
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DND1
DND microRNA-mediated repression inhibitor 1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 3B
ClinVar
PMID:28492532
NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576
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HARS1
histidyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 3B ClinVar Annotator: match by term: Usher syndrome type 3B
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22930593 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26072516 PMID:27353947 PMID:28166811 PMID:28492532 PMID:28632987 PMID:29235198 PMID:29790872 PMID:32333447 PMID:32543048 More...
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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HARS2
histidyl-tRNA synthetase 2, mitochondrial
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 3B
ClinVar
PMID:28492532
NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305
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ARSG
arylsulfatase G
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IV ClinVar Annotator: match by term: Usher syndrome, type 4
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 PMID:33629623 More...
NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
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PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 4
ClinVar
PMID:28492532 PMID:33300174
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2B
ClinVar
PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25333064 PMID:25741868 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26667666 PMID:27460420 PMID:27575413 PMID:28041643 PMID:28492532 PMID:30029497 PMID:30311386 PMID:32467589 More...
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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PDZD7
PDZ domain containing 7
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 2B
ClinVar
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC
ClinVar
PMID:12075507 PMID:15537665 PMID:15660226 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC
ClinVar
PMID:12075507 PMID:15537665 PMID:28492532
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
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PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC
ClinVar
PMID:15537665 PMID:15660226 PMID:24033266
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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MARK3
microtubule affinity regulating kinase 3
IAGP
ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi
ClinVar OMIM
PMID:25741868 PMID:29771303
NCBI chr14:103,385,415...103,503,831
Ensembl chr14:103,385,377...103,503,831
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ARNT2
aryl hydrocarbon receptor nuclear translocator 2
IAGP
ClinVar Annotator: match by term: Webb-Dattani syndrome
ClinVar OMIM
PMID:24022475 PMID:25741868 PMID:28492532
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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CTBP1
C-terminal binding protein 1
IAGP
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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FGFRL1
fibroblast growth factor receptor like 1
IAGP
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
IAGP
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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NSD2
nuclear receptor binding SET domain protein 2
IAGP
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 PMID:30345613 More...
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NUF2
NUF2 component of NDC80 kinetochore complex
IAGP
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
NCBI chr 1:163,321,954...163,355,759
Ensembl chr 1:163,266,576...163,355,764
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IAGP
DNA:snp:cds:m.4216T>C (human)
RGD
PMID:9309689
RGD:5490247
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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WFS1
wolframin ER transmembrane glycoprotein
IAGP EXP
ClinVar Annotator: match by term: Wolfram syndrome ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15277431 PMID:16806192 PMID:17568405 PMID:19344068 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23429432 PMID:23596069 PMID:24033266 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25741868 PMID:26435059 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29207974 PMID:30014265 PMID:30773290 PMID:30957632 PMID:31567480 PMID:32141364 PMID:9771706 More...
RGD:1599813
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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WFS1
wolframin ER transmembrane glycoprotein
IAGP
ClinVar Annotator: match by term: Wolfram syndrome 1 ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
OMIM ClinVar
PMID:1161832 PMID:3387915 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12754709 PMID:12782971 PMID:12955714 PMID:15008830 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:16151413 PMID:16195229 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22797899 PMID:22938506 PMID:23257691 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24117146 PMID:24227685 PMID:24424032 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26773575 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:29207974 PMID:29529044 PMID:29632382 PMID:30014265 PMID:30311386 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31313226 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31604968 PMID:31759989 PMID:32141364 PMID:32179840 PMID:32567228 PMID:33116287 PMID:33879153 PMID:34258273 PMID:34737607 PMID:34746052 PMID:34803393 PMID:34970515 More...
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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CISD2
CDGSH iron sulfur domain 2
ISO IAGP EXP
ClinVar Annotator: match by term: Wolfram syndrome 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar CTD OMIM RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 PMID:19451219 PMID:17846994 More...
RGD:10045601 , RGD:10045603
NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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SLC9B1
solute carrier family 9 member B1
IAGP
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532
NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719
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