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G |
ANKK1 |
ankyrin repeat and kinase domain containing 1 |
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ISO |
DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human) |
RGD |
PMID:23691092 |
RGD:401959324 |
NCBI chr11:108,267,717...108,280,635
Ensembl chr11:112,111,003...112,123,382
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G |
ANKRD17 |
ankyrin repeat domain 17 |
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ISO |
ClinVar Annotator: match by term: Speech delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:50,939,013...51,124,185
Ensembl chr 4:56,770,798...57,439,365
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ASXL3 |
ASXL transcriptional regulator 3 |
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ISO |
ClinVar Annotator: match by term: Language retardation |
ClinVar |
PMID:25741868 |
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NCBI chr18:26,781,382...26,953,935
Ensembl chr18:30,403,018...30,541,651
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BCL11A |
BCL11 transcription factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27120335 |
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NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Expressive language delay |
ClinVar |
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NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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CNTNAP2 |
contactin associated protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20157312 PMID:21082657 PMID:21310003 |
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NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
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G |
DPYD |
dihydropyrimidine dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21114665 |
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NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
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G |
DRD2 |
dopamine receptor D2 |
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ISO |
DNA:SNP,haplotype::rs6278(human) |
RGD |
PMID:23691092 |
RGD:401959324 |
NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
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G |
EBF3 |
EBF transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Expressive language delay |
ClinVar |
PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 |
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NCBI chr10:126,432,326...126,561,328
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G |
ERF |
ETS2 repressor factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354439 |
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NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
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G |
FOXP2 |
forkhead box P2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27120335 |
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NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
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G |
GNB1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Expressive language delay |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 More...
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NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Expressive language delay |
ClinVar |
PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 |
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NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23933820 |
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NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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G |
KCNA2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25751627 |
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NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328
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G |
KMT5B |
lysine methyltransferase 5B |
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ISO |
ClinVar Annotator: match by term: Language retardation |
ClinVar |
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NCBI chr11:63,239,796...63,297,113
Ensembl chr11:66,549,230...66,581,475
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NRXN1 |
neurexin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20157312 |
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NCBI chr2A:50,063,398...51,178,659
Ensembl chr2A:50,985,067...52,091,277
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G |
PTEN |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9286463 |
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
SETBP1 |
SET binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25217958 |
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NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453
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G |
SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16284256 PMID:17173049 |
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NCBI chr22:30,951,866...30,973,608
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FAR1 |
fatty acyl-CoA reductase 1 |
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ISO |
ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related condition | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33239752 |
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NCBI chr11:13,774,530...13,838,195
Ensembl chr11:13,468,756...13,531,716
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208 |
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NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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G |
ARPC4 |
actin related protein 2/3 complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:35047857 |
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NCBI chr 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250
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G |
GAMT |
guanidinoacetate N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition |
OMIM ClinVar |
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16293431 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:23846910 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:28055022 PMID:28438604 PMID:28492532 PMID:28758966 PMID:29506905 PMID:29655203 PMID:31130284 PMID:31222513 PMID:32214227 PMID:33996490 PMID:34015165 PMID:34324503 PMID:34389248 PMID:34738359 PMID:35588794 PMID:37808418 More...
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Ensembl chr19:1,371,312...1,375,461
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G |
NDUFS7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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ISO |
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
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Ensembl chr19:1,357,389...1,369,539
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G |
TBR1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 | ClinVar Annotator: match by term: TBR1-related condition |
OMIM ClinVar |
PMID:11353400 PMID:25232744 PMID:25741868 PMID:28492532 PMID:30250039 PMID:30268909 PMID:32005960 PMID:33004838 More...
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NCBI chr2B:48,709,687...48,719,382
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G |
TANC2 |
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition |
OMIM ClinVar |
PMID:23033978 PMID:25741868 PMID:28492532 PMID:28754924 PMID:30021165 PMID:31616000 PMID:36474027 More...
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NCBI chr17:57,037,330...57,509,229
Ensembl chr17:62,239,230...62,650,299
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G |
TNPO2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:34314705 |
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NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317
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G |
NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | ClinVar Annotator: match by term: NR4A2-related condition |
OMIM ClinVar |
PMID:23066323 PMID:25741868 PMID:28492532 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 PMID:32366965 PMID:33585677 PMID:38440907 More...
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NCBI chr2B:43,584,835...43,593,118
Ensembl chr2B:160,826,091...160,837,162
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G |
NTNG2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
ClinVar |
PMID:25741868 |
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NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
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G |
PAK1 |
p21 (RAC1) activated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related condition | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders |
OMIM ClinVar |
PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 PMID:33098801 More...
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NCBI chr11:72,372,577...72,524,817
Ensembl chr11:76,015,998...76,104,197
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G |
SETD1B |
SET domain containing 1B, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder | ClinVar Annotator: match by term: SETD1B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 PMID:29322246 PMID:29758562 PMID:31110234 PMID:31440728 PMID:31685013 PMID:32546566 PMID:34345025 More...
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NCBI chr12:119,406,881...119,436,037
Ensembl chr12:122,777,996...122,804,181
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G |
KLHDC2 |
kelch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | ClinVar Annotator: match by term: NEMF-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105
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G |
NEMF |
nuclear export mediator factor |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | ClinVar Annotator: match by term: NEMF-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27431290 PMID:28492532 PMID:32934225 PMID:33004807 PMID:33048237 More...
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NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258
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G |
CNOT3 |
CCR4-NOT transcription complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: CNOT3-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 PMID:37003183 More...
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NCBI chr19:51,071,167...51,089,289
Ensembl chr19:59,913,040...59,931,108
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G |
LENG1 |
leukocyte receptor cluster member 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
ClinVar |
PMID:25741868 PMID:29758562 |
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NCBI chr19:51,089,247...51,093,572
Ensembl chr19:59,931,039...59,935,332
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G |
MBOAT7 |
membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,107,197...51,121,968
Ensembl chr19:59,949,428...59,963,312
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G |
PRPF31 |
pre-mRNA processing factor 31 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,048,133...51,064,394
Ensembl chr19:59,891,070...59,907,159
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TMC4 |
transmembrane channel like 4 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,093,724...51,107,084
Ensembl chr19:59,935,416...59,949,266
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G |
BCL11B |
BCL11 transcription factor B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32659295 PMID:34580403 More...
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NCBI chr14:79,795,262...79,898,472
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G |
FOXP1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment AND with or without autistic features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 PMID:20950788 PMID:24214399 PMID:24498627 PMID:25131622 PMID:25326635 PMID:25363768 PMID:25575603 PMID:25741868 PMID:25767709 PMID:26633542 PMID:26647308 PMID:27657687 PMID:27824329 PMID:28492532 PMID:28653555 PMID:28708303 PMID:28714951 PMID:28735298 PMID:28741757 PMID:28884888 PMID:29090079 PMID:29142287 PMID:30385778 PMID:30564305 PMID:31199603 PMID:31474318 PMID:31618753 PMID:32860008 PMID:33427368 PMID:33461977 PMID:34109629 PMID:34580403 PMID:34588003 PMID:35991577 More...
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NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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G |
GNB5 |
G protein subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia |
OMIM ClinVar |
PMID:25741868 PMID:27523599 PMID:27677260 PMID:29368331 PMID:30631341 PMID:31130284 PMID:33176815 More...
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NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123
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G |
KAT8 |
lysine acetyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31794431 |
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NCBI chr16:23,837,540...23,851,376
Ensembl chr16:31,486,098...31,500,185
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G |
KIF9 |
kinesin family member 9 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
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G |
KLHL18 |
kelch like family member 18 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
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G |
PTPN23 |
protein tyrosine phosphatase non-receptor type 23 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
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G |
SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 PMID:24267886 PMID:24728327 PMID:24852293 PMID:24901346 PMID:25574603 PMID:25741868 PMID:26084711 PMID:26467025 PMID:26580448 PMID:27317772 PMID:27455002 PMID:27528607 PMID:28166811 PMID:28424246 PMID:28492532 PMID:28577310 PMID:29276005 PMID:29681085 PMID:30419952 PMID:31474318 PMID:32668055 PMID:32710489 PMID:33004838 PMID:36474027 PMID:37025455 PMID:37372360 More...
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NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Houge-Janssens syndrome 3 | ClinVar Annotator: match by term: PPP2CA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28333917 PMID:28492532 PMID:29051493 PMID:30595372 |
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NCBI chr 5:129,599,606...129,629,312
Ensembl chr 5:135,751,958...135,765,786
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TMEM147 |
transmembrane protein 147 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:36044892 |
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NCBI chr19:32,492,030...32,493,944
Ensembl chr19:41,229,033...41,230,960
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KIAA0408 |
KIAA0408 ortholog |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
ClinVar |
PMID:25741868 |
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NCBI chr 6:125,228,765...125,263,582
Ensembl chr 6:129,346,738...129,378,332
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G |
UBE4A |
ubiquitination factor E4A |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27431290 PMID:33420346 |
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NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
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G |
ZFTRAF1 |
zinc finger TRAF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
ClinVar |
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NCBI chr 8:141,217,179...141,229,953
Ensembl chr 8:144,205,966...144,221,599
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SIRT4 |
sirtuin 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME |
ClinVar |
PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 |
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NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures |
ClinVar |
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NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures |
OMIM ClinVar |
PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21878566 PMID:21910241 PMID:22581653 PMID:22840528 PMID:23313911 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:25260352 PMID:25633834 PMID:25741868 PMID:26227324 PMID:26822303 PMID:27593853 PMID:27662471 PMID:27868338 PMID:28211989 PMID:28371864 PMID:28492532 PMID:28750076 PMID:30513141 PMID:30847666 PMID:34163037 PMID:34999275 PMID:37901857 More...
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NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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ANKRD44 |
ankyrin repeat domain 44 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
ClinVar |
PMID:25741868 |
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NCBI chr2B:84,230,570...84,554,326
Ensembl chr2B:202,128,829...202,331,534
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HECW2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
OMIM ClinVar |
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 PMID:29807643 PMID:33205896 PMID:34047014 PMID:34321324 More...
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NCBI chr2B:83,445,401...83,838,065
Ensembl chr2B:201,351,023...201,584,044
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NTNG2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
ClinVar |
PMID:25741868 PMID:31668703 |
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NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
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TIAM1 |
TIAM Rac1 associated GEF 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures | ClinVar Annotator: match by term: TIAM1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:35240055 |
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NCBI chr21:17,483,273...17,925,301
Ensembl chr21:30,868,308...31,016,883
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GABBR1 |
gamma-aminobutyric acid type B receptor subunit 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and variable cognitive abnormalities |
ClinVar OMIM |
PMID:25741868 PMID:36103875 |
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NCBI chr 6:29,405,026...29,437,108
Ensembl chr 6:30,065,119...30,095,304
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GRIA2 |
glutamate ionotropic receptor AMPA type subunit 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31300657 |
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NCBI chr 4:149,566,563...149,712,135
Ensembl chr 4:161,380,933...161,524,376
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NARS1 |
asparaginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32738225 |
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NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
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DHPS |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment |
OMIM ClinVar |
PMID:25741868 PMID:30661771 |
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NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
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WDR83 |
WD repeat domain 83 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment |
ClinVar |
PMID:25741868 PMID:30250217 |
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NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221
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WDR83OS |
WD repeat domain 83 opposite strand |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment |
ClinVar |
PMID:25741868 PMID:30250217 |
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NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896
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CACNA1I |
calcium voltage-gated channel subunit alpha1 I |
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ISO |
ClinVar Annotator: match by term: CACNA1I-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33704440 |
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NCBI chr22:20,463,511...20,595,253
Ensembl chr22:38,296,436...38,414,963
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CHD3 |
chromodomain helicase DNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
OMIM ClinVar |
PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 PMID:28492532 PMID:29463886 PMID:29758562 PMID:30192042 PMID:30397230 PMID:32483341 PMID:33358638 PMID:35346573 PMID:36114283 More...
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NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
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NAA38 |
N-alpha-acetyltransferase 38, NatC auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932
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CNTNAP2 |
contactin associated protein 2 |
susceptibility |
ISO |
DNA:SNPs: :(human) |
RGD |
PMID:18987363 |
RGD:13450918 |
NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
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TM4SF20 |
transmembrane 4 L six family member 20 |
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ISO |
ClinVar Annotator: match by term: Specific language impairment 5 | ClinVar Annotator: match by term: TM4SF20-related condition |
OMIM ClinVar |
PMID:19557438 PMID:20848651 PMID:23806086 PMID:23810381 PMID:24088043 PMID:25741868 PMID:28492532 More...
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NCBI chr2B:114,606,488...114,623,569
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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 5:89,870,613...90,970,909
Ensembl chr 5:96,163,304...96,531,116
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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: :p.P215A (human) |
OMIM ClinVar RGD |
PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 PMID:17033973 PMID:17330859 PMID:19352412 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 More...
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RGD:11536000 |
NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
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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 7:102,647,212...103,536,293
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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 7:103,072,402...103,106,880
Ensembl chr 7:115,819,307...115,821,433
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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 4:105,026,069...105,128,226
Ensembl chr 4:115,590,311...115,686,089
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