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Brd4 |
bromodomain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: De Lange syndrome |
CTD ClinVar |
PMID:25741868 PMID:29379197 |
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NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Nipbl |
NIPBL, cohesin loading factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis |
CTD ClinVar |
PMID:15318302 PMID:17661813 PMID:18414213 PMID:19763162 PMID:19886366 PMID:24038889 PMID:24918291 PMID:25741868 PMID:26467025 PMID:26597256 PMID:28492532 PMID:29379197 More...
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Pds5a |
PDS5 cohesin associated factor A |
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ISS |
OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 |
MouseDO |
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NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
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Rad21 |
RAD21 cohesin complex component |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: De Lange syndrome |
CTD ClinVar |
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NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome |
CTD ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Smc3 |
structural maintenance of chromosomes 3 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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Hdac8 |
histone deacetylase 8 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
PMID:25741868 PMID:26671848 PMID:30158690 |
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NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
PMID:25574841 |
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:11391654 PMID:15146185 PMID:15146186 PMID:15318302 PMID:15591270 PMID:16100726 PMID:16199547 PMID:16236812 PMID:16799922 PMID:17106445 PMID:17221863 PMID:17576681 PMID:17661813 PMID:18414213 PMID:19763162 PMID:20358602 PMID:20824775 PMID:22581668 PMID:22857006 PMID:23254390 PMID:23313159 PMID:23505322 PMID:23760082 PMID:24038889 PMID:24145515 PMID:24218399 PMID:24635725 PMID:24689074 PMID:24759409 PMID:24874887 PMID:24918291 PMID:25125236 PMID:25447906 PMID:25574841 PMID:25741868 PMID:25991456 PMID:26467025 PMID:26597256 PMID:26701315 PMID:26725122 PMID:26925417 PMID:26938784 PMID:28166811 PMID:28425213 PMID:28492532 PMID:28588001 PMID:29159939 PMID:29348408 PMID:29995837 PMID:30158690 PMID:31157197 PMID:31337854 PMID:34008892 More...
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Nup155 |
nucleoporin 155 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Smc3 |
structural maintenance of chromosomes 3 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
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NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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Taf6 |
TATA-box binding protein associated factor 6 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 |
ClinVar |
PMID:25574841 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
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Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:19052029 PMID:23683030 PMID:28492532 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Ribc1 |
RIB43A domain with coiled-coils 1 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy |
OMIM ClinVar |
PMID:9536098 PMID:11877377 PMID:16273072 PMID:16604071 PMID:17221863 PMID:17273969 PMID:17576681 PMID:18414213 PMID:18996922 PMID:19052029 PMID:19701948 PMID:19842212 PMID:20358602 PMID:20635401 PMID:22106055 PMID:22140011 PMID:23551878 PMID:23683030 PMID:24088041 PMID:24124034 PMID:24461912 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25574841 PMID:25741868 PMID:26354354 PMID:26358754 PMID:26386245 PMID:26467025 PMID:26633545 PMID:27159028 PMID:27171548 PMID:27334371 PMID:28166369 PMID:28425213 PMID:28492532 PMID:28548707 PMID:30158690 PMID:31098032 PMID:31334757 PMID:32238909 More...
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Smc3 |
structural maintenance of chromosomes 3 |
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ISO |
ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24088041 PMID:25125236 PMID:25574841 PMID:25655089 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26633542 PMID:26633545 PMID:28492532 PMID:30158690 PMID:31334757 More...
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NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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Eif3h |
eukaryotic translation initiation factor 3, subunit H |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451
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Rad21 |
RAD21 cohesin complex component |
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ISO |
ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 |
OMIM ClinVar |
PMID:18414213 PMID:22633399 PMID:24378232 PMID:25326637 PMID:25741868 PMID:27620904 PMID:27882533 PMID:28166811 PMID:28492532 PMID:30125677 PMID:30158690 PMID:30716475 PMID:31334757 PMID:32193685 PMID:32696056 More...
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NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Utp23 |
UTP23, small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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Dmrtc1a |
DMRT-like family C1a |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:67,822,187...67,852,572
Ensembl chr X:67,822,113...67,852,571
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Dmrtc1c1 |
DMRT-like family C1c1 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:67,896,973...67,904,182
Ensembl chr X:67,896,974...67,904,182
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Hdac8 |
histone deacetylase 8 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 DNA:snp:intron:c.164+5G>A (human) DNA:missense mutations, deletions, duplication:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 PMID:21320778 PMID:22885700 PMID:22889856 PMID:24088041 PMID:24375697 PMID:24403048 PMID:25075551 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25574841 PMID:25741868 PMID:26463496 PMID:26633545 PMID:26671848 PMID:26725122 PMID:27159028 PMID:28492532 PMID:29293505 PMID:30158690 PMID:22889856 PMID:24403048 More...
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RGD:13208817, RGD:11068490 |
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Nap1l2 |
nucleosome assembly protein 1-like 2 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666
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Pabpc1l2a |
poly(A) binding protein, cytoplasmic 1-like 2A |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:68,023,977...68,026,508
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Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 PMID:25741868 |
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NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455
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