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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISS |
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MouseDO |
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NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant |
ClinVar |
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NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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G |
Mbd5 |
methyl-CpG binding domain protein 5 |
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ISS |
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MouseDO |
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NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant |
ClinVar |
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NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant |
ClinVar |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant |
ClinVar |
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NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISS |
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MouseDO |
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NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
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G |
Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32 ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
OMIM ClinVar |
PMID:17374998 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 |
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NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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G |
Mef2c |
myocyte enhancer factor 2C |
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ISO |
ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations ClinVar Annotator: match by OMIM:613443 |
OMIM ClinVar |
PMID:7679508 PMID:18414213 PMID:19592390 PMID:19876902 PMID:20333642 PMID:20513142 PMID:22031302 PMID:23001426 PMID:24088041 PMID:25741868 PMID:25741869 PMID:26633545 PMID:27255693 PMID:27748065 PMID:28492532 PMID:28554332 PMID:29706646 PMID:30376817 |
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NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
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G |
Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 |
ClinVar OMIM |
PMID:21076407 PMID:24307393 PMID:25741868 PMID:28288114 |
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NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
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G |
Kcnq5 |
potassium voltage-gated channel subfamily Q member 5 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 |
ClinVar OMIM |
PMID:25741868 PMID:28669405 |
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NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
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G |
Stag1 |
stromal antigen 1 |
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ISO |
ClinVar Annotator: match by term: STAG1-related disorder ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 |
ClinVar OMIM |
PMID:25741868 PMID:25748820 PMID:28119487 PMID:30158690 |
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NCBI chr 8:108,958,099...109,342,738
Ensembl chr 8:108,958,046...109,342,738
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Rac1 |
Rac family small GTPase 1 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 |
ClinVar OMIM |
PMID:25741868 PMID:25741888 PMID:28886345 PMID:32860008 |
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NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
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G |
Naa15 |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 |
ClinVar OMIM |
PMID:23665959 PMID:25741868 PMID:26785492 PMID:28191889 PMID:28492532 PMID:28990276 PMID:29656860 |
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NCBI chr 2:140,471,437...140,534,259
Ensembl chr 2:140,471,690...140,534,259
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G |
Kmt5b |
lysine methyltransferase 5B |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 |
ClinVar OMIM |
PMID:25363768 PMID:25741868 PMID:28191889 PMID:29276005 |
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NCBI chr 1:219,000,844...219,050,211
Ensembl chr 1:219,000,844...219,050,211
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G |
Ash1l |
ASH1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 |
ClinVar OMIM |
PMID:23033978 PMID:25741868 PMID:25961944 PMID:28191889 PMID:28394464 |
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NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
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G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 |
ClinVar OMIM |
PMID:25363768 PMID:25741868 PMID:25741872 PMID:28130356 PMID:29100089 PMID:29560374 |
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NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
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G |
Camk2b |
calcium/calmodulin-dependent protein kinase II beta |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 |
ClinVar OMIM |
PMID:25741868 PMID:29100089 PMID:29560374 PMID:32581362 |
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NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
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G |
Mrc2 |
mannose receptor, C type 2 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 |
ClinVar |
PMID:25741868 |
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NCBI chr10:93,520,272...93,581,599
Ensembl chr10:93,520,132...93,581,296
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G |
Tlk2 |
tousled-like kinase 2 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 |
ClinVar OMIM |
PMID:25741868 PMID:25741869 PMID:27479843 PMID:28492532 PMID:29861108 |
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NCBI chr10:93,410,181...93,507,277
Ensembl chr10:93,415,399...93,507,277
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G |
Set |
SET nuclear proto-oncogene |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 |
ClinVar OMIM |
PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 PMID:29688601 |
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NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504
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G |
Camk2g |
calcium/calmodulin-dependent protein kinase II gamma |
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ISO |
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OMIM |
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NCBI chr15:3,936,721...3,995,740
Ensembl chr15:3,936,786...3,995,915
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G |
Ap2m1 |
adaptor related protein complex 2 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES |
OMIM ClinVar |
PMID:25741868 PMID:31104773 |
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NCBI chr11:84,041,184...84,047,542
Ensembl chr11:84,041,184...84,047,546
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G |
Med13 |
mediator complex subunit 13 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 61 |
OMIM ClinVar |
PMID:25741868 PMID:29740699 |
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NCBI chr10:73,702,327...73,787,084
Ensembl chr10:73,702,327...73,787,083
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G |
Wdr1 |
WD repeat domain 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 61 |
ClinVar |
PMID:29740699 |
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NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 62 |
ClinVar OMIM |
PMID:25741868 PMID:26350515 PMID:27479843 PMID:29460436 |
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NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
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G |
Trio |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY |
OMIM ClinVar |
PMID:25741868 PMID:27418539 PMID:28796471 PMID:32109419 |
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NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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G |
Acvr2a |
activin A receptor type 2A |
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ISO |
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:21981781 PMID:23632792 |
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NCBI chr 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282
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G |
Arhgap15 |
Rho GTPase activating protein 15 |
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ISO |
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:21981781 PMID:23632792 |
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NCBI chr 3:28,626,987...29,236,225
Ensembl chr 3:28,627,084...29,236,219
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G |
Epc2 |
enhancer of polycomb homolog 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:19904302 PMID:21981781 PMID:23632792 |
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NCBI chr 3:33,641,616...33,741,219
Ensembl chr 3:33,641,616...33,740,461
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G |
Gtdc1 |
glycosyltransferase-like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:21981781 PMID:23632792 |
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NCBI chr 3:29,410,426...29,705,981
Ensembl chr 3:29,410,426...29,705,985
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G |
Kif5c |
kinesin family member 5C |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:19904302 PMID:21981781 PMID:23632792 |
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NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
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G |
Kynu |
kynureninase |
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ISO |
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:21981781 PMID:23632792 |
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NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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G |
Lrp1b |
LDL receptor related protein 1B |
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ISO |
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:21981781 PMID:23632792 |
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NCBI chr 3:25,201,194...27,348,126
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G |
Mbd5 |
methyl-CpG binding domain protein 5 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar Annotator: match by OMIM:156200 |
OMIM ClinVar |
PMID:17847001 PMID:19809484 PMID:19904302 PMID:21981781 PMID:22726846 PMID:23055267 PMID:23422940 PMID:23587880 PMID:23632792 PMID:24885232 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27222293 PMID:28008202 PMID:28492532 PMID:29655203 PMID:30311386 PMID:32238909, PMID:26942102 |
RGD:11554204 |
NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
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G |
Orc4 |
origin recognition complex, subunit 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:19904302 PMID:21981781 PMID:23632792 |
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NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
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ISO |
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder |
ClinVar |
PMID:21981781 PMID:23632792 |
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NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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G |
Cacng2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 10 |
OMIM ClinVar |
PMID:21376300 |
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NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
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G |
Epb41l1 |
erythrocyte membrane protein band 4.1-like 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 11 ClinVar Annotator: match by This custom term has been created by RGD curators. |
OMIM ClinVar |
PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868 |
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NCBI chr 3:152,492,725...152,622,047
Ensembl chr 3:152,552,822...152,619,722
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 13 ClinVar Annotator: match by OMIM:614563 |
OMIM ClinVar |
PMID:21076407 PMID:22368300 PMID:23603762 PMID:24136616 PMID:25140959 PMID:25326635 PMID:25326637 PMID:25609763 PMID:25741868 PMID:25741869 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29706646 PMID:32238909 |
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NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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G |
Creb3l4 |
cAMP responsive element binding protein 3-like 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,596,657...189,602,243
Ensembl chr 2:189,595,415...189,602,143
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G |
Crtc2 |
CREB regulated transcription coactivator 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,615,928...189,625,646
Ensembl chr 2:189,615,948...189,626,051
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G |
Dennd4b |
DENN domain containing 4B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,626,922...189,642,732
Ensembl chr 2:189,629,297...189,642,183
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G |
Gatad2b |
GATA zinc finger domain containing 2B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar Annotator: match by OMIM:615074 |
OMIM ClinVar |
PMID:21681106 PMID:23033978 PMID:25741868 PMID:28077840 PMID:28191890 PMID:30346093 PMID:31205050 PMID:31949314 |
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NCBI chr 2:189,654,871...189,735,056
Ensembl chr 2:189,655,702...189,733,540
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G |
Jtb |
jumping translocation breakpoint |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,591,707...189,595,926
Ensembl chr 2:189,591,780...189,596,421
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G |
Nup210l |
nucleoporin 210-like |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,453,932...189,571,918
Ensembl chr 2:189,454,340...189,571,529
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G |
Rab13 |
RAB13, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,581,209...189,586,358
Ensembl chr 2:189,581,644...189,586,338
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G |
Rps27 |
ribosomal protein S27 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,572,175...189,573,280
Ensembl chr 2:189,572,176...189,573,280
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G |
Slc39a1 |
solute carrier family 39 member 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 |
ClinVar |
PMID:21681106 |
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NCBI chr 2:189,609,766...189,615,367
Ensembl chr 2:189,609,800...189,615,366
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 19 ClinVar Annotator: match by OMIM:615075 |
OMIM ClinVar |
PMID:2614104 PMID:18414213 PMID:23033978 PMID:24033266 PMID:24614104 PMID:24668549 PMID:25326635 PMID:25326637 PMID:25326669 PMID:25741868 PMID:27915094 PMID:27959697 PMID:28514307 PMID:28575650 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO |
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OMIM |
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NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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G |
Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 21 ClinVar Annotator: match by OMIM:615502 |
OMIM ClinVar |
PMID:23746550 PMID:25741868 PMID:28492532 PMID:29076501 PMID:31239556 |
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NCBI chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22 ClinVar Annotator: match by OMIM:612337 |
OMIM ClinVar |
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:29573576 |
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NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
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G |
Setd5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 23 ClinVar Annotator: match by OMIM:615761 |
ClinVar OMIM |
PMID:18414213 PMID:23020937 PMID:24680889 PMID:25138099 PMID:25741868 |
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NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245
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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 26 |
ClinVar OMIM |
PMID:21680558 PMID:21681106 PMID:22872102 PMID:23332918 PMID:25205402 PMID:25741868 PMID:25741869 PMID:28492532 |
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NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
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G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 26 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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G |
Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by OMIM:616078 ClinVar Annotator: match by term: Mental retardation, autosomal dominant 29 |
ClinVar OMIM |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25217958 PMID:25663181 PMID:25741868 PMID:28346496 PMID:31680123 |
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NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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G |
Cdh15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 3 |
OMIM ClinVar |
PMID:19012874 PMID:25741868 PMID:28492532 |
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NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992
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G |
Zmynd11 |
zinc finger, MYND-type containing 11 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 30 |
ClinVar OMIM |
PMID:25217958 PMID:25741868 PMID:25741899 PMID:28708303 |
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NCBI chr17:63,825,616...63,914,740
Ensembl chr17:63,825,627...63,879,171
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G |
Pura |
purine rich element binding protein A |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation ClinVar Annotator: match by OMIM:616158 |
ClinVar OMIM |
PMID:23950017 PMID:24033266 PMID:25342064 PMID:25439098 PMID:25741868 PMID:25741869 PMID:27148565 PMID:28448108 PMID:28492532 PMID:28600779 PMID:29097605 PMID:29619234 PMID:32238909 PMID:32581362 PMID:32860008 |
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NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
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Dpp6 |
dipeptidyl peptidase like 6 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 33 |
ClinVar OMIM |
PMID:23832105 PMID:25741868 |
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NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
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G |
Cert1 |
ceramide transporter 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 34 |
OMIM ClinVar |
PMID:25533962 PMID:25741868 |
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NCBI chr 2:27,365,145...27,469,797
Ensembl chr 2:27,365,148...27,469,779
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G |
Mea1 |
male-enhanced antigen 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 35 |
ClinVar |
PMID:18414213 PMID:19344873 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 PMID:26576547 PMID:28492532 PMID:28867141 PMID:30676711 |
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NCBI chr 9:16,610,312...16,614,153
Ensembl chr 9:16,610,315...16,612,136
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G |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 35 |
OMIM ClinVar |
PMID:18414213 PMID:19344873 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 PMID:26576547 PMID:28492532 PMID:28867141 PMID:30676711 |
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NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
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G |
Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 36 |
OMIM ClinVar |
PMID:24728327 PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 |
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NCBI chr 1:60,717,386...60,736,629
Ensembl chr 1:60,717,386...60,736,609
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 38 |
OMIM ClinVar |
PMID:3066688 PMID:24697219 PMID:25741868 PMID:26682508 PMID:26795593 PMID:27441201 PMID:28492532 |
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NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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G |
Myt1l |
myelin transcription factor 1-like |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 39 ClinVar Annotator: match by OMIM:616521 |
OMIM ClinVar |
PMID:23033978 PMID:25232846 PMID:25741868 PMID:28859103 PMID:30055078 |
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NCBI chr 6:48,452,385...48,843,443
Ensembl chr 6:48,452,369...48,857,936
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G |
Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 4 ClinVar Annotator: match by OMIM:612581 |
OMIM ClinVar |
PMID:19012874 PMID:25741868 |
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NCBI chr 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
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G |
Champ1 |
chromosome alignment maintaining phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 40 ClinVar Annotator: match by OMIM:616579 ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 |
OMIM ClinVar |
PMID:21063390 PMID:23020937 PMID:24781758 PMID:25533962 PMID:25741869 PMID:26340335 PMID:26751395 PMID:27148580 |
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NCBI chr16:80,839,373...80,850,340
Ensembl chr16:80,839,374...80,850,340
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G |
Tbl1xr1 |
TBL1X receptor 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 41 |
OMIM ClinVar |
PMID:18414213 PMID:19760657 PMID:25102098 PMID:25741868 PMID:27133561 PMID:30365874 |
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NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 42 |
ClinVar OMIM |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27759915 PMID:30194818 PMID:32963807 |
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NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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G |
Hivep2 |
HIVEP zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 ClinVar Annotator: match by term: Mental retardation, autosomal dominant 43 ClinVar Annotator: match by term: HIVEP2-Related Disorder ClinVar Annotator: match by OMIM:616977 |
ClinVar OMIM |
PMID:23020937 PMID:25741868 PMID:26153216 PMID:27003583 |
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NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
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G |
Trio |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 44 ClinVar Annotator: match by term: Mercer-Ba syndrome |
ClinVar OMIM |
PMID:18388777 PMID:23033978 PMID:24038936 PMID:25741868 PMID:26721934 PMID:27418539 PMID:28796471 PMID:32109419 |
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NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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G |
B3galt4 |
Beta-1,3-galactosyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,446,104...5,447,679
Ensembl chr20:5,446,104...5,447,673
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G |
Bak1 |
BCL2-antagonist/killer 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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G |
Cuta |
cutA divalent cation tolerance homolog |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,532,024...5,533,640
Ensembl chr20:5,532,024...5,533,620
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G |
Daxx |
death-domain associated protein |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
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G |
Hsd17b8 |
hydroxysteroid (17-beta) dehydrogenase 8 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,817,212...3,819,316
Ensembl chr20:3,817,179...3,819,235
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G |
Itpr3 |
inositol 1,4,5-trisphosphate receptor, type 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702
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G |
Kifc1 |
kinesin family member C1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,509,059...5,526,175
Ensembl chr20:5,509,059...5,526,175
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G |
Mir219a1 |
microRNA 219a-1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,816,158...3,816,267
Ensembl chr20:3,816,158...3,816,267
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G |
Pfdn6 |
prefoldin subunit 6 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,455,974...5,457,448
Ensembl chr20:5,455,974...5,457,444
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G |
Phf1 |
PHD finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,526,926...5,531,940
Ensembl chr20:5,526,961...5,531,941
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G |
Rgl2 |
ral guanine nucleotide dissociation stimulator-like 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,458,509...5,466,853
Ensembl chr20:5,458,509...5,466,265
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G |
Ring1 |
ring finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,812,287...3,815,834
Ensembl chr20:3,812,287...3,815,834
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G |
Rps18 |
ribosomal protein S18 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,441,875...5,445,553
Ensembl chr20:5,441,876...5,445,553
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G |
Rxrb |
retinoid X receptor beta |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,822,673...3,829,138
Ensembl chr20:3,823,042...3,829,140
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G |
Slc39a7 |
solute carrier family 39 member 7 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,819,416...3,822,788
Ensembl chr20:3,819,414...3,822,778
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar Annotator: match by OMIM:612621 |
OMIM ClinVar |
PMID:18414213 PMID:19196676 PMID:20683986 PMID:21237447 PMID:23161826 PMID:23687080 PMID:23708187 PMID:24690944 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25418537 PMID:25741868 PMID:26079862 PMID:26467025 PMID:26795593 PMID:26989088 PMID:27159028 PMID:27334371 PMID:28492532 PMID:28554332 PMID:28708303 PMID:30311386 PMID:30541864 PMID:32238909 |
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NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
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G |
Tapbp |
TAP binding protein |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,468,056...5,476,007
Ensembl chr20:5,468,078...5,476,193
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G |
Vps52 |
VPS52 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,431,997...5,441,736
Ensembl chr20:5,432,004...5,441,706
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G |
Wdr46 |
WD repeat domain 46 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,447,860...5,455,632
Ensembl chr20:5,447,860...5,455,632
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G |
Zbtb22 |
zinc finger and BTB domain containing 22 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,476,345...5,479,900
Ensembl chr20:5,476,345...5,479,511
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G |
Zbtb9 |
zinc finger and BTB domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 |
ClinVar |
PMID:28492532 |
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NCBI chr20:5,566,517...5,569,535
Ensembl chr20:5,566,531...5,569,533
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G |
Apold1 |
apolipoprotein L domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,752,142...168,755,024
Ensembl chr 4:168,752,133...168,755,023
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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G |
Ddx47 |
DEAD-box helicase 47 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,775,134...168,787,594
Ensembl chr 4:168,775,111...168,787,730
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G |
Emp1 |
epithelial membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:169,161,076...169,181,967
Ensembl chr 4:169,147,243...169,181,966
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G |
Fam234b |
family with sequence similarity 234, member B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,976,797...169,052,750
Ensembl chr 4:168,976,859...169,019,561
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G |
Gprc5a |
G protein-coupled receptor, class C, group 5, member A |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,832,937...168,851,650
Ensembl chr 4:168,832,910...168,851,652
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G |
Gprc5d |
G protein-coupled receptor, class C, group 5, member D |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,872,897...168,884,925
Ensembl chr 4:168,872,897...168,884,886
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar Annotator: match by OMIM:613970 |
OMIM ClinVar |
PMID:16537520 PMID:18414213 PMID:20890276 PMID:23160955 PMID:23408766 PMID:23918416 PMID:24272827 PMID:25326635 PMID:25326637 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:27572814 PMID:27616045 PMID:27656287 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28283559 PMID:28377535 PMID:28440294 PMID:28492532 PMID:28503605 PMID:28554332 PMID:28708303 PMID:28856709 PMID:30217972 |
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NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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G |
Gsg1 |
germ cell associated 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:169,020,680...169,037,021
Ensembl chr 4:169,020,683...169,036,950
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G |
Hebp1 |
heme binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,903,586...168,933,102
Ensembl chr 4:168,903,565...168,933,079
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar Annotator: match by OMIM:614104 |
OMIM ClinVar |
PMID:17237124 PMID:18414213 PMID:21204217 PMID:21294719 PMID:23099646 PMID:23160955 PMID:23512985 PMID:24033266 PMID:24088041 PMID:25167861 PMID:25326635 PMID:25533962 PMID:25641759 PMID:25707398 PMID:25741868 PMID:25920557 PMID:25944381 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26922654 PMID:27241786 PMID:28053047 PMID:28191890 PMID:28492532 PMID:28708303 PMID:29034068 PMID:30311386 PMID:30619508 PMID:32581362 PMID:32860008 |
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NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
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G |
Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
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G |
Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,799,032...2,806,686
Ensembl chr 3:2,800,650...2,803,574
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G |
C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,724,616...2,727,616
Ensembl chr 3:2,724,616...2,727,616
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
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G |
Ccdc183 |
coiled-coil domain containing 183 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,832,893...2,843,050
Ensembl chr 3:2,832,847...2,841,331
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G |
Clic3 |
chloride intracellular channel 3 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:2,675,732...2,678,248
Ensembl chr 3:2,676,296...2,680,565
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G |
Dipk1b |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
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G |
Dnlz |
DNL-type zinc finger |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
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G |
Dpp7 |
dipeptidylpeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,569,135...2,573,387
Ensembl chr 3:2,569,135...2,573,387
|
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G |
Edf1 |
endothelial differentiation-related factor 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 3:2,781,169...2,785,474
Ensembl chr 3:2,781,169...2,785,474
|
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
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|
G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
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G |
Entr1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
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|
G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,726,705...2,731,213
Ensembl chr 3:2,727,254...2,731,212
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|
G |
Fut7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,637,281...2,646,497
Ensembl chr 3:2,642,531...2,646,648
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|
G |
Gpsm1 |
G-protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
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|
G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 ClinVar Annotator: match by OMIM:614254 |
OMIM ClinVar |
PMID:10197535 PMID:12451122 PMID:20716669 PMID:21376300 PMID:22246434 PMID:24088041 PMID:25008524 PMID:25326635 PMID:25741868 PMID:25864721 PMID:26350515 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27159321 PMID:27164704 PMID:28051072 PMID:28228639 PMID:28492532 PMID:30355546 PMID:30776697 |
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NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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|
G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
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|
G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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|
G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,894,702...2,898,255
Ensembl chr 3:2,894,702...2,898,254
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|
G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,716,547...2,719,135
Ensembl chr 3:2,716,534...2,719,513
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G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,888,103...2,893,498
Ensembl chr 3:2,888,103...2,893,495
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|
G |
Lcn8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,871,890...2,875,682
Ensembl chr 3:2,872,031...2,875,015
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|
G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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|
G |
Mamdc4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,786,523...2,795,109
Ensembl chr 3:2,786,523...2,795,109
|
|
G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
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|
G |
Mir126b |
microRNA 126b |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:4,042,488...4,042,560
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G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
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|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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|
G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,624,231...2,630,672
Ensembl chr 3:2,625,015...2,630,670
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|
G |
Paxx |
PAXX, non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,678,987...2,681,668
Ensembl chr 3:2,678,956...2,680,622
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|
G |
Phpt1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,797,037...2,798,436
Ensembl chr 3:2,796,997...2,798,470
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|
G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
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|
G |
Ptgds |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
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|
G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
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|
G |
Rabl6 |
RAB, member RAS oncogene family-like 6 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,806,777...2,832,697
Ensembl chr 3:2,806,777...2,832,697
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|
G |
Sapcd2 |
suppressor APC domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,590,355...2,597,283
Ensembl chr 3:2,591,331...2,596,583
|
|
G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
|
|
G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
|
|
G |
Tmem141 |
transmembrane protein 141 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,843,635...2,845,593
Ensembl chr 3:2,843,635...2,845,593
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|
G |
Tmem250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
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|
G |
Traf2 |
Tnf receptor-associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,746,061...2,770,690
Ensembl chr 3:2,746,075...2,770,620
|
|
G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:2,579,250...2,584,523
Ensembl chr 3:2,579,258...2,584,523
|
|
G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
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|
|
G |
Trio |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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|
G |
Trip12 |
thyroid hormone receptor interactor 12 |
|
ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 ClinVar Annotator: match by term: Clark-Baraitser syndrome |
ClinVar OMIM |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:31814248 |
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NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO ISS |
ClinVar Annotator: match by term: Coffin-Siris syndrome OMIM:135900 |
ClinVar MouseDO |
PMID:25741868 |
|
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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|
G |
Arid1b |
AT-rich interaction domain 1B |
|
ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar Annotator: match by term: Coffin-Siris syndrome DNA:frameshift,nonsense mutations, haploinsufficiency:cds: |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868, PMID:24674232 |
RGD:11526783 |
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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|
G |
Kdm8 |
lysine demethylase 8 |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:196,838,460...196,854,192
Ensembl chr 1:196,839,321...196,854,180
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|
G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
ClinVar |
PMID:18414213 |
|
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:18414213 PMID:24728327 PMID:25741868 PMID:26353884 PMID:27701467 PMID:28492532 |
|
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
|
|
G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
|
|
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22426308 PMID:25741868 |
|
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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|
G |
Arid1b |
AT-rich interaction domain 1B |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
ClinVar OMIM |
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23815551 PMID:23906836 PMID:23929686 PMID:25326635 PMID:25473036 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:27474218 PMID:27570168 PMID:28323383 PMID:28454995 PMID:28492532 PMID:28708303 PMID:31132234 PMID:32860008 |
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NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
|
NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
|
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Sox4 |
SRY-box transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 10 |
OMIM ClinVar |
PMID:25741868 PMID:30661772 |
|
NCBI chr17:37,615,022...37,619,728
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G |
Smarcd1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
|
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11 |
OMIM ClinVar |
PMID:30879640 |
|
NCBI chr 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732
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G |
Actn4 |
actinin alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 |
|
NCBI chr 1:87,078,012...87,147,347
Ensembl chr 1:87,078,020...87,147,333
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar Annotator: match by OMIM:614607 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:30123105 |
|
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
|
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G |
Hr |
HR, lysine demethylase and nuclear receptor corepressor |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 |
|
NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
|
|
|
G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar Annotator: match by OMIM:614608 |
OMIM ClinVar |
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 |
|
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
|
|
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16 ClinVar Annotator: match by OMIM:614609 |
OMIM ClinVar |
PMID:10601012 PMID:22426308 PMID:23637025 PMID:25326635 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
|
ISO |
ClinVar Annotator: match by term: Coffin-siris syndrome 5 ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 |
|
NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
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G |
Arid2 |
AT-rich interaction domain 2 |
|
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6 |
ClinVar OMIM |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 |
|
NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
|
|
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G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7 |
ClinVar OMIM |
PMID:25741868 PMID:29429572 |
|
NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
|
|
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G |
Smarcc2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
|
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8 |
OMIM ClinVar |
PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 |
|
NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453
|
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G |
Sox11 |
SRY-box transcription factor 11 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 27 |
ClinVar OMIM |
PMID:24886874 PMID:25741868 PMID:32860008 |
|
NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
|
|
|
G |
Adnp |
activity-dependent neuroprotector homeobox |
|
ISO |
ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome ClinVar Annotator: match by term: Helsmoortel-van der aa syndrome ClinVar Annotator: match by term: Mental retardation, autosomal dominant 28 |
OMIM ClinVar |
PMID:18414213 PMID:23160955 PMID:24531329 PMID:25057125 PMID:25169753 PMID:25217958 PMID:25363760 PMID:25533962 PMID:25741868 PMID:27031564 PMID:28221363 PMID:28492532 PMID:28708303 PMID:29475819 PMID:29724491 PMID:29911927 PMID:30311386 PMID:31029150 |
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NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
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Arf2 |
ADP-ribosylation factor 2 |
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ISO |
ClinVar Annotator: match by term: Koolen-de Vries syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:92,018,562...92,040,335
Ensembl chr10:92,018,562...92,040,333
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome |
ClinVar OMIM |
PMID:20301783 PMID:22544363 PMID:22544367 PMID:24056718 PMID:24088041 PMID:25326635 PMID:25741868 PMID:25741877 PMID:26306646 PMID:26424144 PMID:26467025 PMID:26633545 PMID:28211987 PMID:28492532 |
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NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
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G |
Kansl1l |
KAT8 regulatory NSL complex subunit 1-like |
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ISO |
ClinVar Annotator: match by term: Koolen-de Vries syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:73,710,959...73,819,335
Ensembl chr 9:73,713,430...73,799,427
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Mapt |
microtubule-associated protein tau |
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ISO |
ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome |
ClinVar |
PMID:26467025 |
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NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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G |
Kif1a |
kinesin family member 1A |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT ClinVar Annotator: match by OMIM:614255 |
OMIM ClinVar |
PMID:18414213 PMID:21376300 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26354034 PMID:26467025 PMID:26486474 PMID:27034427 PMID:27124789 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28834584 PMID:29590070 PMID:30311386 PMID:30385166 PMID:30564185 PMID:31805580 PMID:32096284 PMID:32860008 |
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NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
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ISO |
ClinVar Annotator: match by term: Schuurs-hoeijmakers syndrome |
OMIM ClinVar |
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30311386 PMID:30588754 PMID:30690871 PMID:32963807 |
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NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
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Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 24 ClinVar Annotator: match by OMIM:615828 |
OMIM ClinVar |
PMID:11690625 PMID:21076407 PMID:23020937 PMID:24726472 PMID:25326635 PMID:25741868 PMID:26048982 PMID:26467025 PMID:28213671 PMID:28940898 PMID:30923367 |
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NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: White-sutton syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: White-sutton syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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Pogz |
pogo transposable element derived with ZNF domain |
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ISO |
ClinVar Annotator: match by term: White-sutton syndrome |
OMIM ClinVar |
PMID:25533962 PMID:25741868 PMID:26739615 PMID:26763879 PMID:26942287 PMID:27148570 PMID:28492532 PMID:28708303 |
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NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: Xia-Gibbs syndrome ClinVar Annotator: match by OMIM:615829 |
OMIM ClinVar |
PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 PMID:25741869 PMID:31474318 |
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NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
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