RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Facies |
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Accession: | DOID:9001487
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browse the term
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Definition: | The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed) |
Synonyms: | exact_synonym: | facial dysmorphism |
| primary_id: | MESH:D019066 |
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Aff4 |
ALF transcription elongation factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
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NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19935664 |
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NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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Chd8 |
chromodomain helicase DNA binding protein 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30670789 |
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NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614070 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Fibp |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: facial dysmorphism |
ClinVar |
PMID:26660953 |
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NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
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NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9207787 PMID:9207788 |
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Msl3 |
MSL complex subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
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NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: facial dysmorphism |
ClinVar |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Tbce |
tubulin folding cofactor E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 More...
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NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME |
ClinVar |
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:11331612 PMID:12000816 PMID:12393546 PMID:12414898 PMID:12844285 PMID:15642680 PMID:16452184 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:23772956 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28873162 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Alpk1 |
alpha-kinase 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Ap1ar |
adaptor-related protein complex 1 associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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Fam241a |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Neurog2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2 |
paired-like homeodomain 2 |
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ISO ISS |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Tifa |
TRAF-interacting protein with forkhead-associated domain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
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Zgrf1 |
zinc finger, GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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Maf |
MAF bZIP transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ayme-Gripp syndrome |
OMIM CTD ClinVar |
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 PMID:25741868 PMID:25865493 PMID:28492532 PMID:30659945 PMID:34217267 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome |
ClinVar |
PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26467025 PMID:26583190 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:32170967 PMID:33446253 PMID:35005077 More...
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NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29261186 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:35005077 PMID:35182466 PMID:35313204 More...
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NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19548389 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26188271 PMID:26467025 PMID:27240540 PMID:27625340 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:33584783 PMID:33604570 More...
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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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: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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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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Ube3b |
ubiquitin protein ligase E3B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Flnb |
filamin B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Boomerang dysplasia |
OMIM CTD ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 |
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Rps23 |
ribosomal protein S23 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM CTD ClinVar |
PMID:25741868 PMID:28257692 |
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NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
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Kif15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:28150392 |
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NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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Adnp2 |
ADNP homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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Atp9b |
ATPase phospholipid transporting 9B (putative) |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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Ctdp1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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Galr1 |
galanin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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Mbp |
myelin basic protein |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Nfatc1 |
nuclear factor of activated T-cells 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Pard6g |
par-6 family cell polarity regulator gamma |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029
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Rbfa |
ribosome binding factor A |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915
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Sall3 |
spalt-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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Slc66a2 |
solute carrier family 66 member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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Txnl4a |
thioredoxin-like 4A |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome |
OMIM CTD ClinVar RGD |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:34713892 PMID:25434003 PMID:28905882 More...
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RGD:11531484, RGD:155882456 |
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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G |
Zfp236 |
zinc finger protein 236 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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G |
Zfp516 |
zinc finger protein 516 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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G |
Cd96 |
CD96 molecule |
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ISO |
ClinVar Annotator: match by term: C syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 |
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NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 |
OMIM ClinVar |
PMID:25741868 PMID:33058759 |
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NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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G |
Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 |
OMIM ClinVar |
PMID:25741868 PMID:33058759 |
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NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO ISS |
DNA:mutations:cds:multiple(human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome DNA:mutation:cds:p.Q241R(mouse) CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12692057 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16007634 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16772349 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17374713 PMID:17437909 PMID:17483702 PMID:17488796 PMID:17496923 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18398503 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19416762 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19735675 PMID:19953625 PMID:20008640 PMID:20141835 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21204800 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22190897 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22698809 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22876591 PMID:22892241 PMID:22907230 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23564332 PMID:23614898 PMID:23644139 PMID:23680146 PMID:23685455 PMID:23715574 PMID:23756559 PMID:23763990 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23875798 PMID:23907581 PMID:23918947 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24283439 PMID:24303953 PMID:24388723 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24458522 PMID:24508103 PMID:24512911 PMID:24524299 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24918823 PMID:24920063 PMID:25024077 PMID:25035421 PMID:25037139 PMID:25079330 PMID:25155755 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:26795593 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27404270 PMID:27478040 PMID:27480103 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28854169 PMID:28891408 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29493581 PMID:29522538 PMID:29533785 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31277584 PMID:31474318 PMID:31560489 PMID:31779674 PMID:31785789 PMID:31891627 PMID:32005694 PMID:32368696 PMID:32810930 PMID:32978145 PMID:33027564 PMID:33040082 PMID:33128510 PMID:33522658 PMID:33644862 PMID:33683002 PMID:34476331 PMID:34573299 PMID:35524774 PMID:16474404 PMID:25035421 PMID:21383153 More...
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RGD:1600471, RGD:11352608, RGD:11567236 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17703371 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
DNA:missense mutations:CDS:p.G60R, p.D153V (human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:19396835 PMID:20186801 PMID:20949621 PMID:21686179 PMID:21784453 PMID:21797849 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25359213 PMID:25741868 PMID:26242988 PMID:27763634 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29517769 PMID:16474404 More...
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RGD:1600471 |
NCBI chr 4:178,185,418...178,218,484
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD MouseDO ClinVar |
PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17703371 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29402968 PMID:29493581 PMID:29643386 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19376813 PMID:20358587 PMID:23885229 PMID:24033266 PMID:24265153 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:33452774 More...
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome |
CTD ClinVar |
PMID:17703371 PMID:25741868 PMID:28492532 |
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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G |
Snapc5 |
small nuclear RNA activating complex, polypeptide 5 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
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NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
OMIM ClinVar |
PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 PMID:5771505 PMID:11313766 PMID:12068308 PMID:15035987 PMID:16007634 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17314276 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17555829 PMID:17603482 PMID:17603483 PMID:17703371 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19206169 PMID:19376813 PMID:19416762 PMID:19537845 PMID:19593635 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:21871821 PMID:22190897 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22538770 PMID:22698809 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23564332 PMID:23644139 PMID:23680146 PMID:23875798 PMID:23907581 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24283439 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24524299 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24920063 PMID:25035421 PMID:25155755 PMID:25157968 PMID:25337068 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26732095 PMID:27146152 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27391121 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28783719 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29522538 PMID:29533785 PMID:29540830 PMID:29907801 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30732632 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:32368696 PMID:33027564 PMID:33040082 PMID:33644862 PMID:33683002 PMID:34113008 PMID:34573299 PMID:35524774 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 |
OMIM ClinVar |
PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17409930 PMID:17551339 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18628094 PMID:19396835 PMID:20652921 PMID:20949621 PMID:21062266 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25741868 PMID:26037647 PMID:26242988 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29948256 PMID:30732632 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder |
OMIM ClinVar |
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18456719 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22848035 PMID:23093928 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:25741869 PMID:26343583 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:28495673 PMID:29402968 PMID:29493581 PMID:29753091 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 PMID:33128510 PMID:33482860 PMID:34006472 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 DNA:missense mutation:CDS:p.P128Q (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24719372 PMID:24803665 PMID:25326637 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29625052 PMID:29696744 PMID:29907801 PMID:30050098 PMID:30773290 PMID:32901917 PMID:20358587 More...
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RGD:155791562 |
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ccdc32 |
coiled-coil domain containing 32 |
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ISO |
ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome |
OMIM ClinVar |
PMID:25741868 PMID:32307552 PMID:35451546 |
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NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM CTD ClinVar |
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 |
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NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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G |
Aff4 |
ALF transcription elongation factor 4 |
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ISO |
ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31058441 PMID:34782754 More...
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NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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G |
Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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G |
Trip12 |
thyroid hormone receptor interactor 12 |
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ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome |
OMIM ClinVar |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:29758562 PMID:31814248 More...
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NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403
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G |
Kdm1a |
lysine demethylase 1A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies |
OMIM CTD ClinVar |
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 PMID:28492532 More...
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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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 | ClinVar Annotator: match by term: Fifth digit 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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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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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 | ClinVar Annotator: match by term: Fifth digit 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: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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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:24933152 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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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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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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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 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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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: Coffin-Siris syndrome 1 | 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: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES 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: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:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:30349098 PMID:30459321 PMID:30504930 PMID:31132234 PMID:31164752 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34706719 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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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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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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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: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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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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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 chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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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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Bicra |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
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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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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Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | 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:35353340 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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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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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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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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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:9536098 PMID:11161377 PMID:17576681 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: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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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 |
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:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31470906 PMID:31530938 PMID:31785789 PMID:32376391 PMID:32686290 PMID:33680622 PMID:35047860 PMID:36474027 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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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 chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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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 chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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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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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:30580808 |
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NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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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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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome |
CTD ClinVar |
PMID:20186812 PMID:25741868 |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
OMIM ClinVar |
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
ClinVar |
PMID:25741868 PMID:27392078 |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 |
OMIM ClinVar |
PMID:16782820 PMID:20400119 PMID:25741868 |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: PERCHING syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 More...
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Acbd6 |
acyl-CoA binding domain containing 6 |
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ISO |
ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Chmp2b |
charged multivesicular body protein 2B |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
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Hesx1 |
HESX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266 More...
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NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
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Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Lhx4 |
LIM homeobox 4 |
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ISO |
ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003
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Pou1f1 |
POU class 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 PMID:2634610 PMID:7670563 PMID:7721104 PMID:7833912 PMID:8768831 PMID:9392392 PMID:9588494 PMID:9626142 PMID:11297581 PMID:11924936 PMID:12629113 PMID:12904605 PMID:15928241 PMID:16968807 PMID:25741868 PMID:26467025 PMID:27541381 PMID:28492532 PMID:31755341 More...
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NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Man2c1 |
mannosidase, alpha, class 2C, member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 |
OMIM ClinVar |
PMID:25741868 PMID:35045343 |
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NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
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Neil1 |
nei-like DNA glycosylase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 |
ClinVar |
PMID:25741868 PMID:35045343 |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Cdk13 |
cyclin-dependent kinase 13 |
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ISO ISS |
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM:617360 CTD Direct Evidence: marker/mechanism DNA:Mutations:cds : DNA:mutations:cds: DNA:mutations: : |
OMIM ClinVar MouseDO CTD RGD |
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28554332 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30525188 PMID:30702837 PMID:30904094 PMID:31238879 PMID:31607746 PMID:33004838 PMID:28807008 PMID:29021403 PMID:29393965 PMID:27479907 More...
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RGD:155631312, RGD:155631311, RGD:155641229, RGD:11560583 |
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Myod1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566 |
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NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 |
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Jarid2 |
jumonji and AT-rich interaction domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies | ClinVar Annotator: match by term: JARID2-related Neurodevelopmental syndrome |
ClinVar OMIM |
PMID:25741868 PMID:33077894 PMID:35887345 |
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NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
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Morc2 |
MORC family CW-type zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
OMIM ClinVar |
PMID:25741868 PMID:26497905 PMID:26659848 PMID:28135719 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:31618753 PMID:31785789 PMID:32693025 PMID:34059105 More...
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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Kdm3b |
lysine demethylase 3B |
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ISO |
ClinVar Annotator: match by term: Diets-Jongmans syndrome |
OMIM ClinVar |
PMID:25741868 PMID:29351919 PMID:30929739 |
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NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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Dph2 |
diphthamide biosynthesis 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 |
ClinVar OMIM |
PMID:25741868 PMID:27421267 PMID:32576952 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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Adam12 |
ADAM metallopeptidase domain 12 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
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Adam8 |
ADAM metallopeptidase domain 8 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
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Adgra1 |
adhesion G protein-coupled receptor A1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,629,744...194,673,254
Ensembl chr 1:194,629,726...194,672,550
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Bnip3 |
BCL2 interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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C1h10orf90 |
similar to human chromosome 10 open reading frame 90 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:189,059,744...189,293,353
Ensembl chr 1:189,059,746...189,293,435
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Caly |
calcyon neuron-specific vesicular protein |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551
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Cfap46 |
cilia and flagella associated protein 46 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
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Clrn3 |
clarin 3 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:190,319,025...190,334,648
Ensembl chr 1:190,319,026...190,334,648
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dhx32 |
DEAH-box helicase 32 (putative) |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:188,524,512...188,577,500
Ensembl chr 1:188,524,512...188,577,500
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Dock1 |
dedicator of cyto-kinesis 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
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Dpysl4 |
dihydropyrimidinase-like 4 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,883,039...193,898,916
Ensembl chr 1:193,883,106...193,898,914
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Ebf3 |
EBF transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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Echs1 |
enoyl-CoA hydratase, short chain 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
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Fank1 |
fibronectin type III and ankyrin repeat domains 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:188,577,512...188,685,501
Ensembl chr 1:188,577,575...188,685,504
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Foxi2 |
forkhead box I2 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:190,222,857...190,226,657
Ensembl chr 1:190,222,703...190,226,433
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Fuom |
fucose mutarotase |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,888,535...194,893,046
Ensembl chr 1:194,886,709...194,893,046
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Glrx3 |
glutaredoxin 3 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
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Inpp5a |
inositol polyphosphate-5-phosphatase A |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428
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Insyn2a |
inhibitory synaptic factor 2A |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:189,697,856...189,753,194
Ensembl chr 1:189,697,878...189,752,922
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Jakmip3 |
janus kinase and microtubule interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,753,134...193,881,105
Ensembl chr 1:193,811,513...193,881,104
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Kndc1 |
kinase non-catalytic C-lobe domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,689,962...194,738,353
Ensembl chr 1:194,690,135...194,738,362
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Lrrc27 |
leucine rich repeat containing 27 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,004,967...194,035,087
Ensembl chr 1:194,005,182...194,035,084
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Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mki67 |
marker of proliferation Ki-67 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Mtg1 |
mitochondrial ribosome-associated GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,931,543...194,944,278
Ensembl chr 1:194,931,531...194,944,277
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Nkx6-2 |
NK6 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515
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Nps |
neuropeptide S |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821
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Paox |
polyamine oxidase |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,919,655...194,928,498
Ensembl chr 1:194,903,273...194,928,504
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Ppp2r2d |
protein phosphatase 2, regulatory subunit B, delta |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,665,918...193,700,277
Ensembl chr 1:193,665,855...193,700,274
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Prap1 |
proline-rich acidic protein 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,883,078...194,886,874
Ensembl chr 1:194,883,078...194,886,872
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Ptpre |
protein tyrosine phosphatase, receptor type, E |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:190,344,331...190,494,815
Ensembl chr 1:190,344,401...190,489,534
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Pwwp2b |
PWWP domain containing 2B |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958
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Sprn |
shadow of prion protein |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,944,602...194,948,448
Ensembl chr 1:194,943,826...194,948,460
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Stk32c |
serine/threonine kinase 32C |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,900,718...193,981,723
Ensembl chr 1:193,900,718...193,981,723
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Syce1 |
synaptonemal complex central element protein 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
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Tcerg1l |
transcription elongation regulator 1-like |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,012,937...193,201,860
Ensembl chr 1:193,012,937...193,200,913
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Tubgcp2 |
tubulin gamma complex component 2 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
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Utf1 |
undifferentiated embryonic cell transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,740,339...194,741,465
Ensembl chr 1:194,740,339...194,741,465
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Ventx |
VENT homeobox |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954
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Zfp511 |
zinc finger protein 511 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,817,697...194,822,102
Ensembl chr 1:194,817,697...194,822,102
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Lyset |
lysosomal enzyme trafficking factor |
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ISO |
ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type |
ClinVar OMIM |
PMID:33252156 |
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NCBI chr 6:121,884,577...121,886,319
Ensembl chr 6:121,884,643...121,886,275
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Eif5a |
eukaryotic translation initiation factor 5A |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33547280 |
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NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies |
OMIM ClinVar |
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30690204 PMID:31608932 More...
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrochondrogenesis |
CTD ClinVar |
PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:28492532 PMID:32427345 PMID:32756486 More...
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar OMIM |
PMID:9536098 PMID:10486316 PMID:16199547 PMID:17236192 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:23922384 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:30245029 PMID:32427345 PMID:32756486 More...
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 2 |
OMIM ClinVar |
PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 PMID:21204229 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:28692176 PMID:30311386 More...
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Ckap2l |
cytoskeleton associated protein 2-like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Filippi syndrome |
OMIM CTD ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8988160 PMID:9150726 PMID:9338588 PMID:9399842 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10694921 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12161601 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15598221 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:18435798 PMID:19012347 PMID:19059503 PMID:19161152 PMID:19293843 PMID:19370756 PMID:19396033 PMID:19839986 PMID:20200614 PMID:20301510 PMID:21683322 PMID:21883168 PMID:21895641 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:24033266 PMID:24055113 PMID:24311428 PMID:24564502 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27146836 PMID:27153395 PMID:27245183 PMID:27274304 PMID:27582083 PMID:27906200 PMID:27959697 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28650953 PMID:28655553 PMID:29168297 PMID:29357934 PMID:29543232 PMID:31008308 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32938213 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Adamtsl2 |
ADAMTS-like 2 |
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ISO ISS |
OMIM:231050 ClinVar Annotator: match by term: Geleophysic dysplasia 1 |
OMIM MouseDO ClinVar |
PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 PMID:28492532 PMID:30174453 PMID:30195254 More...
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 2 |
OMIM ClinVar |
PMID:1852206 PMID:2005308 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24339047 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25142510 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26380986 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29191498 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29620724 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30513137 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31350823 PMID:31605817 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33030311 PMID:33082559 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34006472 PMID:34008892 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34818515 PMID:35253369 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Zfp148 |
zinc finger protein 148 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
OMIM CTD ClinVar |
PMID:12840224 PMID:25741868 PMID:27964749 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
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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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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5519603 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25574841 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28120103 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29203834 PMID:29255178 PMID:29453417 PMID:29574747 PMID:30305169 PMID:30549396 PMID:31157197 PMID:31337854 PMID:32860008 PMID:33004838 More...
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NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
PMID:25574841 |
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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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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease |
ClinVar |
PMID:25741868 PMID:29625025 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26171675 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:30210120 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30921096 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33824467 PMID:36194927 PMID:22158539 More...
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RGD:12880042 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Zpr1 |
ZPR1 zinc finger |
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ISO |
ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies |
ClinVar OMIM |
PMID:29851065 |
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NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
susceptibility |
ISO |
ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 More...
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Abat |
4-aminobutyrate aminotransferase |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Carhsp1 |
calcium regulated heat stable protein 1 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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Mettl22 |
methyltransferase 22, Kin17 lysine |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:7,113,602...7,130,715
Ensembl chr10:7,113,660...7,130,654
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Pmm2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Tmem114 |
transmembrane protein 114 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:7,168,998...7,185,251
Ensembl chr10:7,169,746...7,185,251
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Tmem186 |
transmembrane protein 186 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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Usp7 |
ubiquitin specific peptidase 7 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:25741868 PMID:26365382 PMID:28492532 PMID:30679821 |
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NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
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Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:33624863 |
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NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies |
OMIM ClinVar |
PMID:19020503 PMID:25741868 PMID:33517393 |
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NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:25741868 |
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NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 More...
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NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Nalcn |
sodium leak channel, non-selective |
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ISO |
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29168298 PMID:29610177 PMID:30167850 PMID:30293248 PMID:23749988 PMID:24075186 More...
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RGD:12911215, RGD:12914762 |
NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human) ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 PMID:28708303 PMID:29430593 PMID:30167850 PMID:30771478 PMID:31130284 PMID:31607746 PMID:31785789 PMID:31839005 PMID:32712949 PMID:26545877 More...
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RGD:11528248 |
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Tbck |
TBC1 domain containing kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:27275012 PMID:28492532 PMID:29283439 PMID:30103036 PMID:30542205 PMID:30577886 PMID:31618753 PMID:32576985 PMID:32860008 PMID:34298581 More...
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NCBI chr 2:221,175,749...221,348,058
Ensembl chr 2:221,175,785...221,348,126
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Pdzd8 |
PDZ domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies |
ClinVar OMIM |
PMID:35227461 |
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NCBI chr 1:258,449,218...258,506,828
Ensembl chr 1:258,449,218...258,506,828
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Tmem94 |
transmembrane protein 94 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28097321 PMID:30526868 PMID:32825426 |
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NCBI chr10:100,991,523...101,027,046
Ensembl chr10:100,991,573...101,027,394
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Fbxo11 |
F-box protein 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28691247 PMID:29796876 PMID:30057029 PMID:30679813 PMID:34505148 More...
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NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
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Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28691247 PMID:30057029 PMID:30679813 PMID:34505148 More...
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
OMIM CTD ClinVar |
PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 PMID:32652122 More...
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NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Rpl10l1 |
ribosomal protein L10 like 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
ClinVar |
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NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
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Otud6b |
OTU deubiquitinase 6B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
OMIM CTD ClinVar |
PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 PMID:32924626 More...
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NCBI chr 5:28,181,992...28,214,486
Ensembl chr 5:28,023,594...28,214,334
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Ccdc85c |
coiled-coil domain containing 85C |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies |
ClinVar |
PMID:25741868 |
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NCBI chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371
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Ccnk |
cyclin K |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies |
OMIM ClinVar |
PMID:25741868 PMID:30122539 |
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NCBI chr 6:127,090,115...127,113,195
Ensembl chr 6:127,090,569...127,113,191
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Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:34314705 |
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NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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Ddx6 |
DEAD-box helicase 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:31422817 |
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NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Cnot2 |
CCR4-NOT transcription complex, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies |
OMIM ClinVar |
PMID:25741868 PMID:31145527 PMID:31512373 |
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NCBI chr 7:52,130,445...52,222,338
Ensembl chr 7:52,130,441...52,223,575
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Mtss2 |
MTSS I-BAR domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:25741868 PMID:36067766 |
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NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations |
OMIM ClinVar |
PMID:11477608 PMID:25741868 PMID:30481285 |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Cnot3 |
CCR4-NOT transcription complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 |
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NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
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Leng1 |
leukocyte receptor cluster member 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
ClinVar |
PMID:29758562 |
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NCBI chr 1:65,551,983...65,556,915
Ensembl chr 1:65,551,983...65,556,915
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Bcl11b |
BCL11 transcription factor B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32659295 |
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NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Tfe3 |
transcription factor binding to IGHM enhancer 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies |
OMIM ClinVar |
PMID:25741868 PMID:29758562 PMID:30595499 PMID:31833172 PMID:32409512 |
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NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE |
OMIM CTD ClinVar |
PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
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NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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Ube3b |
ubiquitin protein ligase E3B |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:244450 ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type |
CTD MouseDO ClinVar OMIM |
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 PMID:28492532 PMID:30792901 More...
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 PMID:31690835 |
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO ISS |
ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies OMIM:148050 CTD Direct Evidence: marker/mechanism DNA:deletions, SNPs:CDS:multiple (human) DNA:mutations:CDS:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:19920853 PMID:21782149 PMID:23463723 PMID:23494856 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28449295 PMID:28492532 PMID:28529015 PMID:28708303 PMID:28976722 PMID:29258554 PMID:29517769 PMID:29565525 PMID:30182498 PMID:30202406 PMID:30919572 PMID:30945278 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:33144682 PMID:33955014 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35970914 PMID:21782149 PMID:25424714 More...
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RGD:11068938, RGD:11086621 |
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aprt |
adenine phosphoribosyl transferase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31690835 |
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NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31690835 |
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NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 PMID:31690835 |
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NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdk10 |
cyclin-dependent kinase 10 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Cdt1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31690835 |
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NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Chmp1a |
charged multivesicular body protein 1A |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cpne7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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Ctu2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba |
cytochrome b-245 alpha chain |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dpep1 |
dipeptidase 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Galns |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31690835 |
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NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Il17c |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Mvd |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l |
PABPN1 like |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31690835 |
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NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166 |
ring finger protein 166 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13 |
ribosomal protein L13 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Setd5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Snai3 |
snail family transcriptional repressor 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Spata2L |
spermatogenesis associated 2-like |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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Spata33 |
spermatogenesis associated 33 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Trappc2l |
trafficking protein particle complex subunit 2L |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 |
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Vps9d1 |
VPS9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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Zc3h18 |
zinc finger CCCH-type containing 18 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zfp26 |
zinc finger protein 26 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 PMID:31690835 |
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NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp276 |
zinc finger protein (C2H2 type) 276 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,282,337...50,324,010
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G |
Zfpm1 |
zinc finger protein, multitype 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
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ISO |
ClinVar Annotator: match by term: Keppen-Lubinsky syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 |
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NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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B3gat3 |
beta-1,3-glucuronyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 PMID:24668659 PMID:25326635 PMID:25741868 PMID:25893793 PMID:26633542 PMID:26754439 PMID:27271787 PMID:27871226 PMID:28229453 PMID:28492532 PMID:31196143 PMID:31438591 PMID:31988067 More...
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NCBI chr 1:205,817,374...205,823,928
Ensembl chr 1:205,817,378...205,837,807
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 More...
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Chst3 |
carbohydrate sulfotransferase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Ganab |
glucosidase II alpha subunit |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695
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G |
Ints5 |
integrator complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685
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G |
Lrrn4cl |
LRRN4 C-terminal like |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,743,580...205,759,879
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Rom1 |
retinal outer segment membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:20335603 PMID:28492532 |
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NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
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G |
Ubxn1 |
UBX domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,765,309...205,769,234
Ensembl chr 1:205,745,120...205,816,520
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G |
Uqcc3 |
ubiquinol-cytochrome c reductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376
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Gon7 |
GON7 subunit of KEOPS complex |
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ISO |
ClinVar Annotator: match by term: Li-Campeau syndrome |
ClinVar |
PMID:33340455 |
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NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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G |
Ubr7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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ISO |
ClinVar Annotator: match by term: Li-Campeau syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33340455 |
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NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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G |
Kif7 |
kinesin family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies |
OMIM CTD ClinVar |
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Erc1 |
ELKS/RAB6-interacting/CAST family member 1 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 4:152,763,664...153,055,724
Ensembl chr 4:152,767,419...153,055,639
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G |
Herc1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation |
OMIM CTD ClinVar |
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 PMID:32921582 PMID:33526774 More...
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NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
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G |
Klln |
killin, p53-regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Macrocephaly-autism syndrome |
ClinVar |
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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G |
Pten |
phosphatase and tensin homolog |
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ISO ISS |
DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human) ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome OMIM:605309 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD RGD |
PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9685848 PMID:9832031 PMID:9832032 PMID:9856571 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10606430 PMID:10749983 PMID:10772390 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11071384 PMID:11156408 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12015762 PMID:12372056 PMID:12614768 PMID:12844284 PMID:12938083 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15372512 PMID:15492994 PMID:15647370 PMID:15805158 PMID:16014636 PMID:16199547 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17942903 PMID:17954274 PMID:18080326 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20049735 PMID:20085938 PMID:20301661 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20712882 PMID:20718038 PMID:20881644 PMID:20926450 PMID:21194675 PMID:21291452 PMID:21343951 PMID:21417916 PMID:21659347 PMID:21798997 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22252256 PMID:22266152 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22505997 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22970944 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23695273 PMID:23744781 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24088041 PMID:24123798 PMID:24136893 PMID:24345843 PMID:24468202 PMID:24728327 PMID:24763289 PMID:24768297 PMID:24778394 PMID:25132236 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25326637 PMID:25418537 PMID:25525159 PMID:25527629 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25910213 PMID:25980754 PMID:26124082 PMID:26229595 PMID:26246517 PMID:26279303 PMID:26443266 PMID:26467025 PMID:26579216 PMID:26580448 PMID:26633545 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26800850 PMID:26898890 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27531073 PMID:27535533 PMID:27878467 PMID:27884173 PMID:27959697 PMID:28008555 PMID:28086757 PMID:28135145 PMID:28251007 PMID:28286253 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:29048666 PMID:29273943 PMID:29371908 PMID:29373119 PMID:29389947 PMID:29594054 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29752200 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311381 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30720243 PMID:30763456 PMID:31006514 PMID:31144778 PMID:31159747 PMID:31209962 PMID:31336731 PMID:32150788 PMID:32238909 PMID:32350270 PMID:32442409 PMID:32664367 PMID:32860008 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33624935 PMID:33887726 PMID:34268892 PMID:35227301 PMID:36681873 PMID:36988593 PMID:15805158 More...
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RGD:12832751 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Amfr |
autocrine motility factor receptor |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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Ano7 |
anoctamin 7 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
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Apob |
apolipoprotein B |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
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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Asxl3 |
ASXL transcriptional regulator 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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Atxn2l |
ataxin 2-like |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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B3glct |
beta 3-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Begain |
brain-enriched guanylate kinase-associated |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 6:127,943,651...127,979,876
Ensembl chr 6:127,943,651...127,979,841
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Cdh5 |
cadherin 5 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cdhr2 |
cadherin-related family member 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575
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Cdk13 |
cyclin-dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 PMID:30904094 More...
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Cers2 |
ceramide synthase 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
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Chd3 |
chromodomain helicase DNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:30397230 |
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NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Chd8 |
chromodomain helicase DNA binding protein 8 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:28288114 |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Cit |
citron rho-interacting serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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Cldn11 |
claudin 11 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
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Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dbn1 |
drebrin 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
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Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Ddx41 |
DEAD-box helicase 41 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Dkk3 |
dickkopf WNT signaling pathway inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590
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Dlg4 |
discs large MAGUK scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:29460436 PMID:33597769 |
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NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dok3 |
docking protein 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188
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Dscaml1 |
DS cell adhesion molecule-like 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:32277047 PMID:36250449 |
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137
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Emilin3 |
elastin microfibril interfacer 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:149,558,785...149,564,785
Ensembl chr 3:149,558,970...149,564,785
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F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Faf2 |
Fas associated factor family member 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,947,211...9,989,474
Ensembl chr17:9,947,220...9,989,485
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Fam193b |
family with sequence similarity 193, member B |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Fbxo11 |
F-box protein 11 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:30057029 |
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NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
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Fgfr4 |
fibroblast growth factor receptor 4 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Fkbp8 |
FKBP prolyl isomerase 8 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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Glt8d2 |
glycosyltransferase 8 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 7:21,029,534...21,081,081
Ensembl chr 7:21,029,525...21,081,080
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Gprin1 |
G protein-regulated inducer of neurite outgrowth 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,863,881...9,876,832
Ensembl chr17:9,863,571...9,876,915
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Grk6 |
G protein-coupled receptor kinase 6 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644
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Hdlbp |
high density lipoprotein binding protein |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
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Hk3 |
hexokinase 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863
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Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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Lman2 |
lectin, mannose-binding 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
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Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Mtrex |
Mtr4 exosome RNA helicase |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627
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Mxd3 |
Max dimerization protein 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
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Neu3 |
neuraminidase 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
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Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Nfib |
nuclear factor I/B |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:30388402 |
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NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479
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Nfix |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Nkap |
NFKB activating protein |
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ISO |
DNA:missense mutations:exon 8-9:multiple (human) |
RGD |
PMID:31587868 |
RGD:155641252 |
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32277047 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Ntmt2 |
N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,050,683...76,093,972
Ensembl chr13:76,053,127...76,093,972
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Nup205 |
nucleoporin 205 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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Pah |
phenylalanine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:7981714 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 PMID:9012412 PMID:9298832 PMID:9399896 PMID:9429153 PMID:9634518 PMID:10234516 PMID:10394930 PMID:10598814 PMID:10693064 PMID:11385716 PMID:12655553 PMID:14722928 PMID:16198137 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:21147011 PMID:21307867 PMID:22698810 PMID:23357515 PMID:23500595 PMID:23792259 PMID:23932990 PMID:24350308 PMID:24368688 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26542770 PMID:26600521 PMID:26666653 PMID:27121329 PMID:27243974 PMID:27620137 PMID:28492532 PMID:32906206 PMID:33803550 PMID:35281663 More...
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NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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G |
Pdlim7 |
PDZ and LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811
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G |
Pfn3 |
profilin 3 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,217,595...9,218,122
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G |
Picalm |
phosphatidylinositol binding clathrin assembly protein |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557
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G |
Pkd1l2 |
polycystin 1 like 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Prelid1 |
PRELI domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
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G |
Prr7 |
proline rich 7 (synaptic) |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536
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G |
Rab24 |
RAB24, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553
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G |
Ralgapb |
Ral GTPase activating protein non-catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:147,062,443...147,152,090
Ensembl chr 3:147,062,364...147,152,090
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G |
Ranbp10 |
RAN binding protein 10 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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G |
Rgs14 |
regulator of G-protein signaling 14 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104
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G |
Rnf44 |
ring finger protein 44 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Sidt1 |
SID1 transmembrane family, member 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr11:56,362,788...56,459,939
Ensembl chr11:56,363,512...56,459,050
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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G |
Sncb |
synuclein, beta |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Spag9 |
sperm associated antigen 9 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr10:78,943,439...79,077,797
Ensembl chr10:78,943,479...79,077,797
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:26637982 |
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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G |
Tapbpl |
TAP binding protein-like |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 4:158,021,454...158,028,905
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G |
Tbr1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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G |
Tmed9 |
transmembrane p24 trafficking protein 9 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176
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G |
Tpcn2 |
two pore segment channel 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236
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G |
Tspan17 |
tetraspanin 17 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834
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G |
Uimc1 |
ubiquitin interaction motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799
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G |
Unc5a |
unc-5 netrin receptor A |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526
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G |
Wscd2 |
WSC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr12:43,046,547...43,141,115
Ensembl chr12:43,048,043...43,088,591
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G |
Zbtb20 |
zinc finger and BTB domain containing 20 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210
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G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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G |
Zfp346 |
zinc finger protein 346 |
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ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635
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G |
Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 2 |
OMIM ClinVar |
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 PMID:30730599 More...
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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G |
Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14638541 PMID:22542183 PMID:24781760 PMID:24896178 PMID:25167861 PMID:25712080 PMID:25741868 PMID:25741869 PMID:25758992 PMID:28492532 PMID:28554332 PMID:28645799 PMID:28708303 PMID:29511999 PMID:30504930 PMID:31785789 PMID:35887114 More...
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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G |
Runx2 |
RUNX family transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly |
OMIM CTD ClinVar |
PMID:10521292 PMID:11857736 PMID:16140555 PMID:23290074 PMID:25741868 PMID:28492532 PMID:29891876 More...
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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G |
Supt3h |
SPT3 homolog, SAGA and STAGA complex component |
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ISO |
ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly |
ClinVar |
PMID:23290074 |
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NCBI chr 9:15,878,296...16,206,768
Ensembl chr 9:15,868,287...16,206,706
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G |
Kif11 |
kinesin family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
OMIM CTD ClinVar |
PMID:9536098 PMID:15930898 PMID:17576681 PMID:22284827 PMID:22653704 PMID:24281367 PMID:25115524 PMID:25124931 PMID:25741868 PMID:25934493 PMID:26472404 PMID:26566857 PMID:27212378 PMID:28492532 PMID:30452590 PMID:30792901 PMID:31077665 PMID:31130284 PMID:32214227 PMID:33137195 PMID:33619735 PMID:34128965 More...
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NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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G |
Adnp |
activity-dependent neuroprotector homeobox |
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ISO |
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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G |
Arhgap15 |
Rho GTPase activating protein 15 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265
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G |
Gtdc1 |
glycosyltransferase-like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
PMID:12920073 |
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NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271
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G |
Hnmt |
histamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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G |
Kynu |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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G |
Lrp1b |
LDL receptor related protein 1B |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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G |
Nxph2 |
neurexophilin 2 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008
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G |
Spopl |
speckle type BTB/POZ protein like |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794
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G |
Thsd7b |
thrombospondin type 1 domain containing 7B |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
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ISO ISS |
OMIM:235730 ClinVar Annotator: match by term: Mowat-Wilson syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15006694 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16199547 PMID:16532472 PMID:16688751 PMID:17103451 PMID:17203459 PMID:17478475 PMID:17576681 PMID:17932455 PMID:17958891 PMID:18182442 PMID:18414213 PMID:19006215 PMID:19215041 PMID:19842203 PMID:20428734 PMID:23243526 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24092421 PMID:24401652 PMID:24715670 PMID:25123255 PMID:25326635 PMID:25326637 PMID:25608121 PMID:25741868 PMID:25899569 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26661037 PMID:26809768 PMID:26993267 PMID:27831545 PMID:28166811 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:29159939 PMID:29263819 PMID:29300384 PMID:30315573 PMID:31130284 PMID:31376723 PMID:32860008 PMID:34298581 More...
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NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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G |
Zeb2-as1 |
ZEB2 antisense RNA 1 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
PMID:12920073 |
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NCBI chr 3:29,343,078...29,345,943
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G |
Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 More...
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NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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G |
Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Spop |
speckle type BTB/POZ protein |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:32109420 |
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NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955
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G |
Spop |
speckle type BTB/POZ protein |
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ISO |
ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
OMIM ClinVar |
PMID:25741868 PMID:32109420 |
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NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955
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G |
Ints1 |
integrator complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 PMID:30622326 PMID:31428919 More...
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NCBI chr12:14,861,312...14,886,048
Ensembl chr12:14,861,318...14,886,037
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies |
OMIM ClinVar |
PMID:11486037 PMID:25741868 PMID:33537682 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Kdm6b |
lysine demethylase 6B |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31124279 |
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NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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G |
Exoc2 |
exocyst complex component 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
ClinVar OMIM |
PMID:32639540 |
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NCBI chr17:33,506,289...33,698,246
Ensembl chr17:33,506,338...33,693,289
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G |
Hus1b |
HUS1 checkpoint clamp component B |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
ClinVar |
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NCBI chr17:33,534,032...33,535,199
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G |
Zmiz1 |
zinc finger, MIZ-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29758562 PMID:30639322 |
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NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597
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G |
Nae1 |
NEDD8 activating enzyme E1 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia |
OMIM ClinVar |
PMID:36608681 |
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NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
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G |
Hnrnpr |
heterogeneous nuclear ribonucleoprotein R |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities |
OMIM ClinVar |
PMID:9421497 PMID:16757948 PMID:25741868 PMID:26795593 PMID:31079900 |
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NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867
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G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:31924697 |
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NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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G |
Emc10 |
ER membrane protein complex subunit 10 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures |
OMIM ClinVar |
PMID:25741868 PMID:32869858 PMID:33531666 PMID:35684946 |
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NCBI chr 1:94,980,260...94,988,847
Ensembl chr 1:94,943,587...94,988,847
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G |
Garin5a |
golgi associated RAB2 interactor 5A |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures |
ClinVar |
PMID:25741868 PMID:35684946 |
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NCBI chr 1:94,988,959...94,995,971
Ensembl chr 1:94,988,613...94,993,539
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