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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Perceptual Disorders
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Accession:DOID:9004523 term browser browse the term
Definition:Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.
Synonyms:exact_synonym: Hemisensory Neglect;   Hemisensory Neglects;   Hemispatial Neglect;   Hemispatial Neglects;   Perceptual Disorder;   Sensory Neglect;   Sensory Neglects;   Somatosensory Discrimination Disorder;   Somatosensory Discrimination Disorders
 primary_id: MESH:D010468


show annotations for term's descendants           Sort by:
alexithymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 PMID:27120335 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO 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 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 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
G 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 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3		 OMIM
CTD
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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:26818607 PMID:28492532 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
Auditory Perceptual Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: therapeutic CTD PMID:10578459 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO OMIM NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640 		JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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
Ensembl chr MT:13,543...14,061 		JBrowse link
G 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 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G 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 		JBrowse link
G 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 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G 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 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 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 		JBrowse link
Hallucinations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cck cholecystokinin ISO associated with Parkinson Disease;DNA:polymorphism, haplogype:promoter:-45C>T (human) RGD PMID:12777967 RGD:1625802 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Cckar cholecystokinin A receptor ISO associated with Schizophrenia
associated with Parkinson Disease;DNA:polymorphism, haplotype: :779T>C (human)		 RGD PMID:10572328 PMID:12777967 RGD:1358451, RGD:1625802 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747 		JBrowse link
G Homer1 homer scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24126708 NCBI chr 2:24,542,777...24,645,715
Ensembl chr 2:24,543,093...24,644,785 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29748632 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Visual hallucination ClinVar PMID:25741868 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
pain agnosia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP ribosylation factor 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition		 OMIM
CTD
ClinVar		 PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition
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 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related condition | 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 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism
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		 OMIM
CTD
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G 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:31850270 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          Neurobehavioral Manifestations 4594
            Perceptual Disorders 79
              Alice in Wonderland Syndrome 0
              Allesthesia 0
              Auditory Perceptual Disorders + 2
              Hallucinations 5
              Illusions 0
              Phantom Limb 2
              Synesthesia 0
              agnosia + 71
paths to the root