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: agnosia
Accession: DOID:4090
browse the term
Definition: A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. (DO)
Synonyms: exact_synonym: Agnosia for Temperature; Body Image Agnosia; Developmental Agnosia; Dyspraxia syndrome; Gustatory Agnosia; Ideational Agnosia; Ideational Agnosias; Olfactory Agnosia; Olfactory Agnosias; agnosia for pain; agnosia for smell; agnosia for taste; agnosia for tastes; agnosias; body-image agnosias; developmental agnosias; dyspraxia; position agnosia; position agnosias; sensory agnosia; sensory agnosias; visual disorientation syndrome; visual disorientation syndromes; visuospatial agnosia; visuospatial agnosias
primary_id: MESH:D000377
xref: EFO:0007136 ; GARD:8 ; ICD10CM:R48.1 ; NCI:C84542
For additional species annotation, visit the
Alliance of Genome Resources .
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Ankk1
ankyrin repeat and kinase domain containing 1
ISO
associated with Binge Drinking;DNA:SNP:exon:rs1800497(human)
RGD
PMID:22728571
RGD:401959322
NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
associated wit Chronic Hepatitis C;DNA:repeats:promoter:
RGD
PMID:26609890
RGD:11352995
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
CTD ClinVar
PMID:11920851 PMID:15534188 PMID:25741868
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27120335
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA
CTD ClinVar
PMID:15877281 PMID:16984964 PMID:17033973 PMID:25741868 PMID:27120335 PMID:27336128 PMID:27933109 PMID:28492532 More...
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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Aptx
aprataxin
susceptibility
ISO
ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: DNA:missense mutation:cds:p.V320G(human) DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM ClinVar CTD RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17049295 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:30609409 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863 PMID:21465257 PMID:17572444 PMID:12196655 More...
RGD:10054301 , RGD:10054300 , RGD:1599207
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
ClinVar
PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 PMID:31041400 PMID:31167812 PMID:32504494 PMID:35426160 More...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ClinVar
PMID:32488064
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Pik3r5
phosphoinositide-3-kinase, regulatory subunit 5
ISO
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 | ClinVar Annotator: match by term: PIK3R5-related condition
OMIM ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287
NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4
OMIM ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32123317 PMID:32347949 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:34697416 PMID:35354845 PMID:37301908 More...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
PMID:28492532
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: Auditory dys-synchrony
ClinVar
PMID:25741868 PMID:28965846 PMID:29040572
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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Kif5a
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Myo7a
myosin VIIA
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Nefl
neurofilament light chain
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
PMID:25741868
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Otof
otoferlin
ISO
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 PMID:28492532 More...
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Slc52a3
solute carrier family 52 member 3
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
PMID:30634948
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
PMID:30818899
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Auditory neuropathy
ClinVar
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Diaph3
diaphanous-related formin 3
ISO ISS
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM:609129 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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Atp11a
ATPase phospholipid transporting 11A
ISO
OMIM
NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3
OMIM ClinVar
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:28301460 PMID:28492532 PMID:29311375 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 PMID:33087929 PMID:34050020 PMID:35063694 PMID:37477868 More...
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Cep135
centrosomal protein 135
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
PMID:28866084
NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:16155193 PMID:16400610 PMID:16763960 PMID:18073582 PMID:18381613 PMID:18484313 PMID:21158681 PMID:22033296 PMID:25741868 PMID:28492532 PMID:28554332 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar
PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 PMID:32961396 PMID:34663476 More...
NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
PMID:25741868 PMID:28475857 PMID:29704315 PMID:31130284 PMID:31400068 PMID:31447100 More...
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Igsf6
immunoglobulin superfamily, member 6
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
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Mettl9
methyltransferase 9, His-X-His N1(pi)-histidine
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 PMID:34242285 More...
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Otoa
otoancorin
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
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Otof
otoferlin
ISO ISS
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition OMIM:601071 CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.1981dupG (human) DNA:missense mutation:cds:p.D1767G (mouse) DNA:missense mutation:cds:p.R1939Q (human) DNA:snps, deletion:cds:multiple (human) associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human) DNA:missense mutation:cds:p.L1011P (human) DNA:snp:intron:IVS8-2A>G (human) DNA:nonsense mutation:cds:p.Q829X (human) DNA:nonsense mutation:cds:p.Y730X (human)
OMIM ClinVar MouseDO CTD RGD
PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:11483641 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16199547 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17036997 PMID:17512949 PMID:17576681 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:19636622 PMID:19888295 PMID:20146813 PMID:20211493 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21117948 PMID:21216247 PMID:21557232 PMID:21935370 PMID:22575033 PMID:22607986 PMID:22906306 PMID:23208854 PMID:23562982 PMID:24001616 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25262649 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25788563 PMID:25991456 PMID:26186295 PMID:26188103 PMID:26434960 PMID:26445815 PMID:26467025 PMID:26632695 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27573290 PMID:27621663 PMID:27652356 PMID:27657688 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28075205 PMID:28335750 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29362361 PMID:29484972 PMID:29752989 PMID:30065612 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30368385 PMID:30482216 PMID:31095577 PMID:31345219 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32860223 PMID:32899707 PMID:32906206 PMID:33095980 PMID:33111345 PMID:33256196 PMID:33297549 PMID:33397372 PMID:33426078 PMID:33528103 PMID:33724713 PMID:33908410 PMID:34113375 PMID:34416374 PMID:34424407 PMID:34536124 PMID:34599368 PMID:34652575 PMID:34692690 PMID:35106950 PMID:35114279 PMID:35982127 PMID:22906306 PMID:22575033 PMID:22575033 PMID:14635104 PMID:20230791 PMID:16097006 PMID:10903124 PMID:12114484 PMID:10192385 More...
RGD:9585724 , RGD:9491826 , RGD:9491826 , RGD:9491386 , RGD:9479161 , RGD:9479157 , RGD:737640 , RGD:9479156 , RGD:9479153
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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Plp1
proteolipid protein 1
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Rab9b
RAB9B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868 PMID:27082237 PMID:28492532
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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Slc17a8
solute carrier family 17 member 8
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
PMID:27068579 PMID:28492532
NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
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Slc52a2
solute carrier family 52 member 2
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29451896 More...
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
DNA:mutation:intron:IVS1-23A>C(human) ClinVar Annotator: match by term: Deafness dystonia 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:11956200 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:21984432 PMID:22736418 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15710860 PMID:17471106 PMID:11601506 More...
RGD:13209130 , RGD:13209136 , RGD:13209134
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis | ClinVar Annotator: match by term: PNPLA8-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 PMID:34782754 More...
NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
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Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A
OMIM ClinVar
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 PMID:29040572 PMID:30250212 PMID:33348459 PMID:37046037 More...
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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Grin2c
glutamate ionotropic receptor NMDA type subunit 2C
ISO
ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A
ClinVar
PMID:25741868
NCBI chr10:100,488,430...100,507,083
Ensembl chr10:100,488,431...100,506,427
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Smg9
SMG9 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
ClinVar OMIM
PMID:35087184
NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type
ClinVar
PMID:25741868 PMID:33024317
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Arrb2
arrestin, beta 2
ISO
RGD
PMID:19399231
RGD:401901598
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Arl13a
ARF like GTPase 13A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
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Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 More...
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892 Ensembl chr20:97,766,179...97,768,892
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Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 PMID:23712037 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:27179713 PMID:28166811 PMID:28492532 PMID:29377098 More...
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
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Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
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Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
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Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 More...
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
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Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,425,712...97,483,821
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Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 More...
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
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Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
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Cdh18
cadherin 18
ISO
ClinVar Annotator: match by term: Childhood apraxia of speech
ClinVar
PMID:27120335
NCBI chr 2:72,818,076...73,820,144
Ensembl chr 2:73,345,005...73,820,138
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Foxp2
forkhead box P2
no_association
ISO
ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1 DNA:missense mutation:exon:p.R553H (human) DNA:missense mutation: :p.P215A (human) DNA:mutations:5' utr, exon, intron:multiple DNA:deletions: :multiple DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
OMIM ClinVar RGD
PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 PMID:17033973 PMID:17330859 PMID:20858596 PMID:22105961 PMID:22106036 PMID:22144704 PMID:22434823 PMID:22766611 PMID:23918746 PMID:25232744 PMID:25741868 PMID:27336128 PMID:27572252 PMID:27933109 PMID:28492532 PMID:28708303 PMID:30377382 PMID:11586359 PMID:19352412 PMID:15877281 PMID:17033973 PMID:16984964 More...
RGD:11072822 , RGD:11536000 , RGD:11526862 , RGD:11526702 , RGD:11070093
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
ClinVar Annotator: match by term: Childhood apraxia of speech
ClinVar
PMID:25422445
NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840
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Lrrn3
leucine rich repeat neuronal 3
ISO
ClinVar Annotator: match by term: Childhood apraxia of speech
ClinVar
PMID:25422445
NCBI chr 6:58,489,060...58,520,322
Ensembl chr 6:58,489,010...58,520,330
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Zgrf1
zinc finger, GRF-type containing 1
ISO
ClinVar Annotator: match by term: Childhood apraxia of speech
ClinVar
PMID:27120335
NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Setx
senataxin
ISO
ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 PMID:15258781 PMID:15732101 PMID:16644229 PMID:17096168 PMID:17159128 PMID:17576681 PMID:17720498 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19377860 PMID:19569000 PMID:19696032 PMID:19744353 PMID:20540686 PMID:20981092 PMID:21190393 PMID:21438761 PMID:21576111 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23566282 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24030952 PMID:24033266 PMID:24088041 PMID:24105744 PMID:24244371 PMID:24760770 PMID:24814856 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25182519 PMID:25299611 PMID:25326635 PMID:25353622 PMID:25382069 PMID:25525159 PMID:25558065 PMID:25741868 PMID:25802885 PMID:26068213 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28245518 PMID:28492532 PMID:28642336 PMID:28708278 PMID:28832565 PMID:29170628 PMID:29411640 PMID:29482223 PMID:29525178 PMID:29650794 PMID:30052327 PMID:30198223 PMID:30220148 PMID:30564185 PMID:30642639 PMID:31325016 PMID:31429931 PMID:31589614 PMID:31692161 PMID:31957062 PMID:32028661 PMID:32166880 PMID:32253937 PMID:32397312 PMID:32409511 PMID:32729724 PMID:33098801 PMID:33448235 PMID:33770234 PMID:33956305 PMID:34426522 PMID:34922620 PMID:35052416 PMID:35309588 PMID:36539320 More...
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar
PMID:25326637 PMID:25741868
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 More...
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 PMID:31850270 More...
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 PMID:31850270 More...
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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