|
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 8:58,676,327...58,685,012
|
|
G |
Slc6a4 |
solute carrier family 6 member 4 |
susceptibility |
ISO |
associated wit Chronic Hepatitis C;DNA:repeats:promoter: |
RGD |
PMID:26609890 |
RGD:11352995 |
NCBI chr10:62,322,688...62,357,060
|
|
|
G |
Apoe |
apolipoprotein E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:88,481,889...88,485,816
|
|
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 6:109,054,160...109,106,191
|
|
|
G |
Bcl11a |
BCL11 transcription factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27120335 |
|
NCBI chr14:98,029,018...98,124,181
|
|
G |
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 4:44,099,848...44,677,700
|
|
|
G |
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
|
|
G |
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...
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|
NCBI chr 1:104,476,801...104,483,409
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
ClinVar |
PMID:32488064 |
|
NCBI chr 3:32,825,771...32,878,740
|
|
|
G |
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 chr10:53,631,469...53,699,550
|
|
|
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 |
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 1:104,476,801...104,483,409
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr X:132,528,107...132,567,237
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr19:40,425,560...40,724,810
|
|
G |
Cdh2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
|
NCBI chr18:8,051,097...8,265,288
|
|
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
|
|
G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 7:63,051,894...63,089,024
|
|
G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 5:158,304,285...158,335,502
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 1:152,342,611...152,414,171
|
|
G |
Nefl |
neurofilament light chain |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr15:46,477,330...46,481,203
|
|
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
|
|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr11:84,612,943...84,690,025
|
|
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:25741868 PMID:26818607 PMID:28492532 More...
|
|
NCBI chr 6:25,928,018...26,024,631
|
|
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
|
|
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
|
|
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
|
|
G |
Tp63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr11:88,343,647...88,554,543
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr12:47,599,161...47,638,143
|
|
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
|
|
G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr14:73,810,478...73,834,993
|
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10578459 |
|
NCBI chr 1:126,123,425...126,249,181
|
|
G |
Vsx1 |
visual system homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15051220 |
|
NCBI chr 3:139,514,270...139,521,869
|
|
|
G |
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
|
|
|
G |
Atp11a |
ATPase phospholipid transporting 11A |
|
ISO |
|
OMIM |
|
|
NCBI chr16:76,657,752...76,767,640
|
|
|
G |
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 4:125,534,844...125,549,986
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:132,528,107...132,567,237
|
|
G |
Cep135 |
centrosomal protein 135 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:28866084 |
|
NCBI chr14:31,884,774...31,950,050
|
|
G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 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
|
|
G |
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 chr13:94,436,680...94,465,535
|
|
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
|
|
G |
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 chr17:41,914,425...41,915,206
|
|
G |
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 9:64,073,610...64,084,332
|
|
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
|
|
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
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
|
|
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 PMID:34242285 More...
|
|
NCBI chr11:84,612,943...84,690,025
|
|
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
|
|
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 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
|
|
G |
Plp1 |
proteolipid protein 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:104,933,921...104,993,317
|
|
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
|
|
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
|
|
G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 PMID:27082237 PMID:28492532 |
|
NCBI chr10:45,412,748...45,507,747
|
|
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
|
|
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
|
|
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
|
|
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 PMID:25741868 PMID:28492532 PMID:29451896 More...
|
|
NCBI chr 9:1,917,841...1,925,286
|
|
|
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: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:108,920,663...108,942,713
|
|
|
G |
Btk |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Deafness dystonia syndrome |
ClinVar |
|
|
NCBI chr X:102,016,070...102,055,448
|
|
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 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...
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RGD:13209130, RGD:13209136, RGD:13209134 |
NCBI chr X:97,717,932...97,722,170
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G |
Cck |
cholecystokinin |
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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
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G |
Cckar |
cholecystokinin A receptor |
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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
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G |
Homer1 |
homer scaffold protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24126708 |
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NCBI chr 2:26,279,012...26,388,279
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29748632 |
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NCBI chr15:56,360,647...56,428,703
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Visual hallucination |
ClinVar |
PMID:25741868 |
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NCBI chr 6:109,054,160...109,106,191
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G |
Pnpla8 |
patatin-like phospholipase domain containing 8 |
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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...
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NCBI chr 6:67,056,783...67,118,714
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G |
Fdxr |
ferredoxin reductase |
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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...
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NCBI chr10:100,507,863...100,516,649
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G |
Grin2c |
glutamate ionotropic receptor NMDA type subunit 2C |
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ISO |
ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A |
ClinVar |
PMID:25741868 |
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NCBI chr10:100,488,430...100,507,083
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G |
Smg9 |
SMG9 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies |
ClinVar OMIM |
PMID:35087184 |
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NCBI chr 1:79,988,540...80,011,262
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type |
ClinVar |
PMID:25741868 PMID:33024317 |
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NCBI chr 1:255,199,108...255,296,983
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G |
Arrb2 |
arrestin, beta 2 |
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ISO |
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RGD |
PMID:19399231 |
RGD:401901598 |
NCBI chr10:55,645,539...55,653,485
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G |
Arl13a |
ARF like GTPase 13A |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,380,370...97,406,704
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G |
Btk |
Bruton tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:102,016,070...102,055,448
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G |
Cenpi |
centromere protein I |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:101,809,192...101,860,935
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G |
Cstf2 |
cleavage stimulation factor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,253,559...97,279,476
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G |
Drp2 |
dystrophin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,607,577...97,658,117
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G |
Gla |
galactosidase, alpha |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:102,062,497...102,073,915
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G |
Nox1 |
NADPH oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,279,058...97,332,291
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G |
Pcdh19 |
protocadherin 19 |
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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...
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NCBI chr X:96,767,686...96,873,477
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G |
Rpl36a |
ribosomal protein L36A |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,766,179...97,768,892
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G |
Srpx2 |
sushi-repeat-containing protein, X-linked 2 |
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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: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...
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NCBI chr X:97,106,455...97,132,197
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G |
Sytl4 |
synaptotagmin-like 4 |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,135,496...97,185,867
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G |
Taf7l |
TATA-box binding protein associated factor 7-like |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,660,222...97,675,241
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G |
Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,717,932...97,722,170
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G |
Tmem35a |
transmembrane protein 35A |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,503,350...97,514,198
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G |
Tnmd |
tenomodulin |
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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...
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NCBI chr X:97,057,137...97,072,634
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G |
Trmt2b |
tRNA methyltransferase 2 homolog B |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,425,712...97,483,821
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G |
Tspan6 |
tetraspanin 6 |
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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...
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NCBI chr X:97,092,394...97,099,659
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G |
Xkrx |
XK related, X-linked |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,341,158...97,353,175
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G |
Cdh18 |
cadherin 18 |
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ISO |
ClinVar Annotator: match by term: Childhood apraxia of speech |
ClinVar |
PMID:27120335 |
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NCBI chr 2:72,818,076...73,820,144
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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 | 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...
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RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 |
NCBI chr 4:44,099,848...44,677,700
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G |
Immp2l |
inner mitochondrial membrane peptidase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Childhood apraxia of speech |
ClinVar |
PMID:25422445 |
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NCBI chr 6:58,070,035...58,970,165
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G |
Lrrn3 |
leucine rich repeat neuronal 3 |
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ISO |
ClinVar Annotator: match by term: Childhood apraxia of speech |
ClinVar |
PMID:25422445 |
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NCBI chr 6:58,489,060...58,520,322
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G |
Zgrf1 |
zinc finger, GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Childhood apraxia of speech |
ClinVar |
PMID:27120335 |
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NCBI chr 2:216,012,911...216,075,608
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G |
Aptx |
aprataxin |
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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 |
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NCBI chr 5:55,798,896...55,822,963
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G |
Setx |
senataxin |
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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...
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NCBI chr 3:32,825,771...32,878,740
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia |
ClinVar |
PMID:25326637 PMID:25741868 |
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NCBI chr12:47,599,161...47,638,143
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G |
Zc4h2 |
zinc finger C4H2-type containing |
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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...
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NCBI chr X:60,525,706...60,546,519
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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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...
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NCBI chr X:132,528,107...132,567,237
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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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...
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NCBI chr X:127,694,219...127,706,378
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