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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 chr 5:19,801,511...19,814,359
Ensembl chr 5:19,801,542...19,814,481
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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 chr13:61,892,872...62,046,625
Ensembl chr13:61,893,951...62,012,404
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G |
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 chr 7:56,093,897...56,251,261
Ensembl chr 7:56,097,970...56,263,622
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G |
BCL11A |
BCL11 transcription factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27120335 |
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NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
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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 chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
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G |
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 chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416
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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 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
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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 chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
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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 chr28:38,489,635...38,601,800
Ensembl chr28:38,491,047...38,602,022
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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 chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077
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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 chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655
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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 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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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 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050
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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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
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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 6:41,405,453...41,415,727
Ensembl chr 6:41,407,070...41,408,823
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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 chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034
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G |
NRXN1 |
neurexin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20157312 |
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NCBI chr10:51,555,660...52,666,774
Ensembl chr10:51,558,452...52,667,569
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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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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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 chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005
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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 chr10:16,621,445...16,665,366
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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 chr21:36,519,710...36,587,002
Ensembl chr21:36,520,968...36,623,388
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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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
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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 chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057
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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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NCBI chr20:57,440,698...57,442,588
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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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NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825
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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 chr36:6,989,644...6,997,916
Ensembl chr36:6,989,488...6,997,900
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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 chr 9:11,133,634...11,459,738
Ensembl chr 9:11,151,475...11,454,022
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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 chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752
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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 chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
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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 9:51,994,593...52,004,620
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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 chr21:21,341,530...21,409,535
Ensembl chr21:21,265,484...21,408,416
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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 chr26:7,443,828...7,467,348
Ensembl chr26:7,446,267...7,467,429
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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 chr 8:26,353,986...26,365,077
Ensembl chr 8:26,353,871...26,364,914
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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 chr 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424
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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 chr 1:103,057,392...103,070,612
Ensembl chr 1:103,057,542...103,066,887
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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 chr 1:103,054,250...103,057,440
Ensembl chr 1:103,054,433...103,057,430
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G |
MBOAT7 |
membrane bound O-acyltransferase domain containing 7 |
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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 chr 1:103,028,000...103,040,299
Ensembl chr 1:103,028,002...103,040,167
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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 chr 1:103,073,359...103,090,652
Ensembl chr 1:103,073,380...103,090,652
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G |
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 chr 1:103,040,513...103,054,110
Ensembl chr 1:103,039,847...103,054,113
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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 chr 8:67,622,592...67,713,922
Ensembl chr 8:67,622,708...67,714,404
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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 chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
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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 chr30:17,835,051...17,876,443
Ensembl chr30:17,837,220...17,881,036
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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 chr 6:17,114,528...17,125,287
Ensembl chr 6:17,114,528...17,125,203
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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 chr20:41,587,202...41,637,768
Ensembl chr20:41,588,443...41,637,781
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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 chr20:41,532,096...41,587,104
Ensembl chr20:41,533,012...41,587,003
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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 chr20:41,485,959...41,511,250
Ensembl chr20:41,485,195...41,587,003
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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 chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
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G |
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 chr11:22,388,327...22,410,052
Ensembl chr11:22,385,257...22,410,052
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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 chr 1:117,119,454...117,121,087
Ensembl chr 1:117,119,529...117,121,041
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G |
CYHR1 |
cysteine and histidine rich 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 chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624
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G |
KIAA0408 |
KIAA0408 |
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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 1:66,136,318...66,151,960
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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 chr 5:15,338,279...15,375,722
Ensembl chr 5:15,341,141...15,370,294
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G |
LOC119866292 |
U4 spliceosomal RNA |
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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 |
OMIM ClinVar |
PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 |
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G |
LOC119866294 |
U4 spliceosomal RNA |
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ISO |
ClinVar Annotator: match by term: ReNU SYNDROME |
ClinVar |
PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 |
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G |
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 chr26:16,228,831...16,244,104
Ensembl chr26:16,234,710...16,240,012
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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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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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 chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
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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 chr37:6,500,741...6,756,505
Ensembl chr37:6,541,554...6,753,028
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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 chr37:5,850,518...6,213,353
Ensembl chr37:5,856,513...6,213,820
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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 9:51,994,593...52,004,620
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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 chr31:26,058,858...26,440,059
Ensembl chr31:25,932,697...26,202,756
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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 chr35:26,212,274...26,243,910
Ensembl chr35:26,213,076...26,237,572
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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 chr15:54,634,332...54,710,711
Ensembl chr15:54,634,335...54,708,184
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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 chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430
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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 chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479
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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 chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661
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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 chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330
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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 chr10:25,381,446...25,493,680
Ensembl chr10:25,380,943...25,482,852
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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 chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
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LOC119870572 |
small Cajal body-specific RNA 21 |
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ISO |
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
ClinVar |
PMID:25741868 |
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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 chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600
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CNTNAP2 |
contactin associated protein 2 |
susceptibility |
ISO |
DNA:SNPs: :(human) |
RGD |
PMID:18987363 |
RGD:13450918 |
NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416
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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 chr25:40,148,578...40,159,975
Ensembl chr25:40,148,570...40,159,959
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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 4:83,915,145...84,873,581
Ensembl chr 4:84,417,872...84,870,827
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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 chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655
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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 chr14:50,487,679...51,336,906
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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 chr14:50,893,254...50,928,475
Ensembl chr14:50,925,878...50,928,004
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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 chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441
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