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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Hypertrichosis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Hypertrichosis |
ClinVar |
PMID:21706002 PMID:25741868 |
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NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815
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G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
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ISO |
ClinVar Annotator: match by term: Hypertrichosis |
ClinVar |
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11153910 PMID:14984474 PMID:16151907 PMID:25741868 PMID:26907177 PMID:28492532 PMID:30809705 More...
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NCBI chr 9:20,407,296...20,414,094
Ensembl chr 9:20,407,281...20,414,056
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G |
SLC29A3 |
solute carrier family 29 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19336477 PMID:20140240 |
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NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244
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G |
TWIST2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Barber-Say syndrome |
OMIM ClinVar |
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
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NCBI chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123
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G |
ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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G |
KDM8 |
lysine demethylase 8 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:19,366,813...19,390,082
Ensembl chr 6:19,366,331...19,380,257
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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: Coffin Siris/Intellectual Disability |
ClinVar |
PMID:18414213 PMID:28512736 |
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NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome |
ClinVar |
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28492532 PMID:28875981 PMID:29641532 PMID:29758562 PMID:33680622 More...
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:24933152 PMID:28492532 More...
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NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
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G |
SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22426308 |
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NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442
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G |
SOX11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 PMID:26543203 |
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G |
ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
ClinVar |
PMID:22426308 PMID:25168959 PMID:25741868 |
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NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | 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 Annotator: match by term: Mental retardation, autosomal dominant 12 |
OMIM ClinVar |
PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23160955 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24033266 PMID:24674232 PMID:25217958 PMID:25249037 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25473036 PMID:25533962 PMID:25674384 PMID:25741868 PMID:25741869 PMID:25741916 PMID:26350204 PMID:26506440 PMID:26822237 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:29758562 PMID:30349098 PMID:30459321 PMID:30504930 PMID:31132234 PMID:31164752 PMID:31618753 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34706719 More...
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NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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G |
DPF2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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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: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
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NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
ClinVar |
PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28166811 PMID:28492532 PMID:28875981 PMID:29641532 PMID:29758562 PMID:33680622 More...
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SOX4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
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G |
SOX4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 10 |
OMIM ClinVar |
PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 |
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NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
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G |
SMARCD1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI chr27:4,624,962...4,640,229
Ensembl chr27:4,626,056...4,637,907
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G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 |
OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 |
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NCBI chr 1:108,344,245...108,427,133
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G |
ACTN4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991
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G |
ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:25741905 PMID:28262751 PMID:28492532 PMID:30123105 PMID:35353340 More...
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NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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G |
HR |
HR lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 |
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NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
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G |
DERL3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400
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G |
MMP11 |
matrix metallopeptidase 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415
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G |
SLC2A11 |
solute carrier family 2 member 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr26:28,652,173...28,673,817
Ensembl chr26:28,652,974...28,673,724
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G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
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 PMID:31273213 PMID:31759698 PMID:33024572 More...
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NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24728327 PMID:25058500 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28875981 PMID:28973083 PMID:29095814 PMID:29338072 PMID:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31216405 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31827798 PMID:31874108 PMID:32376391 PMID:32686290 PMID:33558524 PMID:33680622 PMID:34813034 PMID:34906459 PMID:35047860 PMID:36474027 PMID:37460928 PMID:38177409 More...
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442
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G |
ARID2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 PMID:30838730 More...
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NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882
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G |
DPF2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 7 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 |
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NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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G |
SMARCC2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition |
OMIM ClinVar |
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 PMID:30580808 More...
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NCBI chr10:481,504...502,914
Ensembl chr10:481,817...501,551
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G |
SOX11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 |
OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 PMID:31292255 PMID:32860008 PMID:33086258 PMID:33785884 PMID:35341651 PMID:35642566 PMID:35938035 More...
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G |
KCNK4 |
potassium two pore domain channel subfamily K member 4 |
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ISO |
ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25741909 PMID:28492532 PMID:30290154 PMID:32165824 |
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NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Facial hypertrichosis |
ClinVar |
PMID:32581362 |
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NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994
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G |
ABCA5 |
ATP binding cassette subfamily A member 5 |
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ISO |
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis |
OMIM ClinVar |
PMID:24831815 PMID:25741868 |
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NCBI chr 9:15,708,070...15,781,100
Ensembl chr 9:15,420,835...15,783,045
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G |
ABCC9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type |
OMIM ClinVar |
PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 PMID:17576681 PMID:18414213 PMID:20474083 PMID:20890277 PMID:21344641 PMID:22608503 PMID:22610116 PMID:23307537 PMID:23861362 PMID:24033266 PMID:24352916 PMID:24439875 PMID:24503780 PMID:25326635 PMID:25590979 PMID:25741868 PMID:25790160 PMID:25979592 PMID:26112015 PMID:26498160 PMID:26656175 PMID:26871653 PMID:26938784 PMID:27247394 PMID:27316244 PMID:27532257 PMID:27707468 PMID:28492532 PMID:29016939 PMID:30177324 PMID:30662450 PMID:30821013 PMID:30847666 PMID:31130284 PMID:31828977 PMID:31907964 PMID:31983221 PMID:32622958 PMID:32746448 PMID:33500567 PMID:34076677 More...
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NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
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G |
KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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ISO |
ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type |
ClinVar |
PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:32215968 |
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NCBI chr27:25,368,565...25,375,754
Ensembl chr27:25,368,810...25,375,009
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G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
OMIM ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:31780887 More...
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NCBI chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963
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