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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 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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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 chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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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 chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
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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 chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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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 chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Barber-Say syndrome |
OMIM CTD 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 chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO ISS |
ClinVar Annotator: match by term: Coffin-Siris syndrome CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD |
PMID:22426308 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
DNA:frameshift,nonsense mutations, haploinsufficiency:cds: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar RGD |
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 More...
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RGD:11526783 |
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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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 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
CTD ClinVar |
PMID:18414213 PMID:22426308 PMID:28512736 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 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 chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 PMID:22726846 PMID:24933152 PMID:25326635 PMID:25741868 PMID:28492532 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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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 chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Sox11 |
SRY-box transcription factor 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:25741868 PMID:26543203 |
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
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 |
PMID:22426308 PMID:25168959 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO ISS |
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 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 OMIM:135900 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 MouseDO |
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:26350204 PMID:26506440 PMID:26822237 PMID:27391121 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28252636 PMID:28323383 PMID:28492532 PMID:28708303 PMID:28726809 PMID:29286531 PMID:29758562 PMID:30349098 PMID:30459321 PMID:30504930 PMID:30587507 PMID:31132234 PMID:31164752 PMID:31530938 PMID:31618753 PMID:32161024 PMID:32277047 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34374989 PMID:34706719 PMID:35904121 More...
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Arsl |
arylsulfatase L |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29565423 PMID:34697415 More...
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NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846
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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 chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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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 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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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:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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 chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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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 PMID:36834931 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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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 chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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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 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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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 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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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:28262751 PMID:28492532 PMID:30123105 PMID:32888375 PMID:34942405 PMID:35353340 PMID:36135330 PMID:36474027 More...
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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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 chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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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 chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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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 chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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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 |
ClinVar OMIM |
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 chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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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:24658004 PMID:24728327 PMID:25058500 PMID:25168959 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:28518168 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:32461654 PMID:32686290 PMID:33461977 PMID:33558524 PMID:33680622 PMID:34813034 PMID:34906459 PMID:35047860 PMID:35904974 PMID:36474027 PMID:37460928 PMID:38177409 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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 |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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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:29698805 PMID:30838730 More...
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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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 chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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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 PMID:33461977 More...
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NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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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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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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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:28492532 PMID:30290154 |
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NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
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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:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Abca5 |
ATP binding cassette subfamily A member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis |
OMIM CTD ClinVar |
PMID:24831815 PMID:25741868 |
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NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
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ISO ISS |
ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type OMIM:239850 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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:28087566 PMID:28166811 PMID:28341588 PMID:28492532 PMID:28842488 PMID:29016939 PMID:29030401 PMID:29758562 PMID:30177324 PMID:30662450 PMID:30821013 PMID:30847666 PMID:31130284 PMID:31828977 PMID:31907964 PMID:31983221 PMID:32622958 PMID:32746448 PMID:33500567 PMID:34076677 PMID:34281161 PMID:35284542 More...
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NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Kcnj8 |
potassium inwardly-rectifying channel, subfamily J, member 8 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type OMIM:239850 |
CTD ClinVar MouseDO |
PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:28842488 PMID:32215968 More...
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NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
OMIM CTD 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 chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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