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G |
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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G |
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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G |
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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G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
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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G |
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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G |
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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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
|
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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G |
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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G |
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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G |
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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G |
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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G |
Rap1gds1 |
Rap1 GTPase-GDP dissociation stimulator 1 |
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ISO |
ClinVar Annotator: match by term: Alfadhel syndrome |
OMIM ClinVar |
PMID:25741868 PMID:32431071 PMID:33875846 |
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NCBI chr 2:227,500,366...227,645,213
Ensembl chr 2:227,500,367...227,645,169
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G |
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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G |
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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G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
ClinVar Annotator: match by term: Au-Kline syndrome |
OMIM ClinVar |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28492532 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 PMID:39033378 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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G |
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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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Au-Kline syndrome |
ClinVar |
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:10878807 PMID:11331612 PMID:11331613 PMID:12000816 PMID:12097293 PMID:12393546 PMID:12414898 PMID:12844285 PMID:12944410 PMID:15574766 PMID:15642680 PMID:16452184 PMID:16585181 PMID:17700531 PMID:17898043 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:19906784 PMID:23772956 PMID:25741868 PMID:26845104 PMID:26846855 PMID:27517496 PMID:28235946 PMID:28492532 PMID:28873162 PMID:30890701 PMID:31980715 PMID:34628056 PMID:35668420 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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G |
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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G |
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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G |
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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G |
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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G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521 Ensembl chr16:146,192,126...146,195,521
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G |
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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G |
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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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO ISS |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 |
OMIM ClinVar MouseDO |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 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:31185933 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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G |
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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G |
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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G |
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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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 PMID:25741868 PMID:25865493 PMID:28492532 PMID:30659945 PMID:34217267 PMID:38177409 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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G |
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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G |
Actg1 |
actin, gamma 1 |
|
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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G |
Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation |
OMIM ClinVar |
PMID:1415343 PMID:3445035 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:22495914 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26297194 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27633570 PMID:27862284 PMID:27866048 PMID:27868373 PMID:28128450 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31898838 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:35005077 PMID:35182466 PMID:35313204 PMID:35401677 PMID:36474027 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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G |
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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G |
Ap5z1 |
adaptor related protein complex 5 subunit zeta 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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G |
Fbxl18 |
F-box and leucine-rich repeat protein 18 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181
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G |
Fscn1 |
fascin actin-bundling protein 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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G |
Mmd2 |
monocyte to macrophage differentiation-associated 2 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773
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G |
Papolb |
poly(A) polymerase beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:12,044,275...12,046,621
Ensembl chr12:12,044,480...12,046,656
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G |
Radil |
Rap associating with DIL domain |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540
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G |
Rbak |
RB-associated KRAB zinc finger |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934
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G |
Rnf216 |
ring finger protein 216 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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G |
Slc29a4 |
solute carrier family 29 member 4 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834
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G |
Tnrc18 |
trinucleotide repeat containing 18 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,755,394...11,851,717
Ensembl chr12:11,755,392...11,851,384
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G |
Wipi2 |
WD repeat domain, phosphoinositide interacting 2 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794
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G |
Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 |
OMIM ClinVar |
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 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:29758562 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:31116477 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 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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G |
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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G |
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 | ClinVar Annotator: match by term: THOC6-related condition |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 PMID:35426486 PMID:36900003 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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G |
Flnb |
filamin B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal 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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G |
Rps23 |
ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM 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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G |
Kif15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:25741868 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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
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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G |
Mbp |
myelin basic protein |
|
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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G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
|
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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G |
Pard6g |
par-6 family cell polarity regulator gamma |
|
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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G |
Rbfa |
ribosome binding factor A |
|
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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G |
Sall3 |
spalt-like transcription factor 3 |
|
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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G |
Slc66a2 |
solute carrier family 66 member 2 |
|
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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G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: |
OMIM ClinVar CTD RGD |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 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 |
|
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 |
OMIM ClinVar |
PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 PMID:37673932 More...
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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:3265306 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:17603482 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: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:20859831 PMID:21062266 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21204800 PMID:21426297 PMID:21483012 PMID:21639808 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: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:25079330 PMID:25157968 PMID:25337068 PMID:25348715 PMID:25370471 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26361991 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:26795593 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27478040 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28783719 PMID:28832562 PMID:28854169 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29453417 PMID:29493581 PMID:29522538 PMID:29533785 PMID:29540830 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:31785789 PMID:31891627 PMID:32005694 PMID:32368696 PMID:32810930 PMID:32978145 PMID:33027564 PMID:33040082 PMID:33128510 PMID:33318624 PMID:33522658 PMID:33644862 PMID:33683002 PMID:34411415 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:16773572 PMID:16987887 PMID:17056636 PMID:17551339 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18456719 PMID:18958496 PMID:19020799 PMID:19396835 PMID:20186801 PMID:20949621 PMID:21062266 PMID:21686179 PMID:21784453 PMID:21797849 PMID:21871821 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 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 ClinVar MouseDO |
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:29753091 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: Cardiofaciocutaneous 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:2851224 PMID:3265306 PMID:4386970 PMID:5771505 PMID:11313766 PMID:12068308 PMID:15035987 PMID:15488754 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:25348715 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:26242988 PMID:26361991 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:28832562 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29453417 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:34411415 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:16361624 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17409930 PMID:17551339 PMID:17875937 PMID:17875939 PMID:18316791 PMID:18386799 PMID:18456719 PMID:18628094 PMID:19114683 PMID:19396835 PMID:19679400 PMID:20147967 PMID:20570890 PMID:20652921 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21062266 PMID:21228335 PMID:21398618 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25157968 PMID:25251940 PMID:25326637 PMID:25741868 PMID:26037647 PMID:26110767 PMID:26242988 PMID:26970110 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29948256 PMID:30289595 PMID:30732632 PMID:30891959 PMID:32934698 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:16199547 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:28955999 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 PMID:34308104 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 |
Snapc5 |
small nuclear RNA activating complex, polypeptide 5 |
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ISO |
ClinVar Annotator: match by term: MAP2K1-related disorder |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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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 |
Map2k2 |
mitogen activated protein kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition 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:22558107 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24719372 PMID:24803665 PMID:24896146 PMID:25326637 PMID:25487361 PMID:25741868 PMID:25802880 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 |
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM 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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Aff4 |
ALF transcription elongation factor 4 |
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ISO |
ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome |
OMIM ClinVar |
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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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 |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Trip12 |
thyroid hormone receptor interactor 12 |
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ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition |
OMIM ClinVar |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28492532 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 |
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies |
OMIM ClinVar |
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 PMID:28492532 PMID:29559475 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 |
CTD ClinVar RGD |
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 More...
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RGD:11526783 |
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Kdm8 |
lysine demethylase 8 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
CTD ClinVar |
PMID:18414213 PMID:22426308 PMID:28512736 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28492532 PMID:28875981 PMID:29641532 PMID:29758562 PMID:33680622 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 PMID:22726846 PMID:24933152 PMID:25326635 PMID:25741868 PMID:28492532 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22426308 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Sox11 |
SRY-box transcription factor 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:25741868 PMID:26543203 |
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
ClinVar |
PMID:22426308 PMID:25168959 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO ISS |
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES OMIM:135900 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23160955 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24033266 PMID:24674232 PMID:25217958 PMID:25249037 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25473036 PMID:25533962 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26506440 PMID:26822237 PMID:27391121 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28252636 PMID:28323383 PMID:28492532 PMID:28708303 PMID:28726809 PMID:29286531 PMID:29758562 PMID:30349098 PMID:30459321 PMID:30504930 PMID:30587507 PMID:31132234 PMID:31164752 PMID:31530938 PMID:31618753 PMID:32161024 PMID:32277047 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34374989 PMID:34706719 PMID:35904121 More...
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Arsl |
arylsulfatase L |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29565423 PMID:34697415 More...
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NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846
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G |
Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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G |
Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 10 |
OMIM ClinVar |
PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 PMID:36834931 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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G |
Smarcd1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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G |
Bicra |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 |
OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 |
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NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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G |
Actn4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 PMID:32888375 PMID:34942405 PMID:35353340 PMID:36135330 PMID:36474027 More...
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 |
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NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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G |
Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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G |
Mmp11 |
matrix metallopeptidase 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar OMIM |
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 PMID:31273213 PMID:31759698 PMID:33024572 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24658004 PMID:24728327 PMID:25058500 PMID:25168959 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 PMID:28518168 PMID:28873162 PMID:28875981 PMID:28973083 PMID:29095814 PMID:29338072 PMID:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31216405 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31827798 PMID:31874108 PMID:32376391 PMID:32461654 PMID:32686290 PMID:33461977 PMID:33558524 PMID:33680622 PMID:34813034 PMID:34906459 PMID:35047860 PMID:35468861 PMID:35904974 PMID:35982159 PMID:36474027 PMID:37460928 PMID:38177409 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 PMID:29698805 PMID:30838730 More...
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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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:28492532 PMID:30580808 PMID:33461977 More...
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NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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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: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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G |
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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G |
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:24073352 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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G |
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: KLHL7-related condition | 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 PMID:28492532 |
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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:9485179 PMID:9588494 PMID:9626142 PMID:11297581 PMID:11924936 PMID:12629113 PMID:12904605 PMID:15844473 PMID:15928241 PMID:16263824 PMID:16968807 PMID:25741868 PMID:26467025 PMID:27541381 PMID:28492532 PMID:31755341 PMID:32894409 PMID:34006472 PMID:34815942 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:31865343 PMID:35045343 PMID:37486637 |
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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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G |
Cdk13 |
cyclin-dependent kinase 13 |
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ISO ISS |
ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM:617360 DNA:Mutations:cds : DNA:mutations:cds: DNA:mutations: : |
OMIM ClinVar MouseDO 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:32762766 PMID:33004838 PMID:33879837 PMID:35034425 PMID:35043535 PMID:35904974 PMID:36114283 PMID:36599938 PMID:39033378 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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Gpc6 |
glypican 6 |
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ISO |
ClinVar Annotator: match by term: MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
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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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G |
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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G |
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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G |
Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition |
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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G |
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 Annotator: match by term: JARID2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 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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U2af2 |
U2 small nuclear RNA auxiliary factor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, dysmorphic facies, and brain anomalies |
OMIM ClinVar |
PMID:28492532 PMID:34112922 PMID:36747105 PMID:37092751 PMID:37962958 |
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NCBI chr 1:68,760,911...68,779,730
Ensembl chr 1:68,760,924...68,778,492
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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:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28135719 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:31618753 PMID:31785789 PMID:32693025 PMID:34059105 PMID:37712079 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 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Ppp2r2d |
protein phosphatase 2, regulatory subunit B, delta |
|
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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G |
Prap1 |
proline-rich acidic protein 1 |
|
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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G |
Ptpre |
protein tyrosine phosphatase, receptor type, E |
|
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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G |
Pwwp2b |
PWWP domain containing 2B |
|
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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G |
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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G |
Stk32c |
serine/threonine kinase 32C |
|
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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G |
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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G |
Tcerg1l |
transcription elongation regulator 1-like |
|
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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G |
Tubgcp2 |
tubulin gamma complex component 2 |
|
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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G |
Utf1 |
undifferentiated embryonic cell transcription factor 1 |
|
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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G |
Ventx |
VENT homeobox |
|
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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G |
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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G |
Lyset |
lysosomal enzyme trafficking factor |
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ISO |
ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type |
OMIM ClinVar |
PMID:33252156 PMID:36074821 |
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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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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Asgr1 |
asialoglycoprotein receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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G |
Asgr2 |
asialoglycoprotein receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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G |
Cldn7 |
claudin 7 |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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G |
Ctdnep1 |
CTD nuclear envelope phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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G |
Dvl2 |
dishevelled segment polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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G |
Eif5a |
eukaryotic translation initiation factor 5A |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31690835 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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G |
Elp5 |
elongator acetyltransferase complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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G |
Gabarap |
GABA type A receptor-associated protein |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
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G |
Gps2 |
G protein pathway suppressor 2 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
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G |
Neurl4 |
neuralized E3 ubiquitin protein ligase 4 |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
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G |
Phf23 |
PHD finger protein 23 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
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G |
Slc2a4 |
solute carrier family 2 member 4 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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G |
Ybx2 |
Y box binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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G |
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:30523548 PMID:30690204 PMID:31608932 PMID:33126486 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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G |
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:21035103 PMID:23922384 PMID:28492532 |
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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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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
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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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar OMIM |
PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:30245029 PMID:32381727 PMID:32578940 PMID:32756486 PMID:34515852 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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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
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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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
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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G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
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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G |
Adamtsl2 |
ADAMTS-like 2 |
|
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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G |
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:27647783 PMID:27906200 PMID:27959697 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28650953 PMID:28655553 PMID:29168297 PMID:29357934 PMID:29543232 PMID:30796334 PMID:31008308 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32938213 PMID:33483584 PMID:35531120 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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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO ISS |
ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1 OMIM:231050 |
OMIM ClinVar MouseDO |
PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 PMID:26879370 PMID:28492532 PMID:30174453 PMID:30195254 PMID:33369194 PMID:36474027 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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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 2 |
OMIM ClinVar |
PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:4750422 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:10486319 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:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 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:25363768 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 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: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:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 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:31536524 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33030311 PMID:33082559 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34006472 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35234813 PMID:35253369 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 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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G |
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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G |
Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition |
OMIM ClinVar |
PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 PMID:36444493 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
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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G |
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: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | 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:17132729 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:28002797 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:31068090 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33824467 PMID:34326862 PMID:35943490 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 |
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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: Hao-Fountain syndrome due to USP7 mutation | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26365382 PMID:28492532 PMID:30679821 More...
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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 |
ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 PMID:33624863 More...
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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 |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 PMID:25683120 PMID:25741868 PMID:28492532 PMID:29168298 PMID:29610177 PMID:30167850 PMID:30293248 PMID:32698188 PMID:24075186 PMID:23749988 More...
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RGD:12914762, RGD:12911215 |
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 |
ClinVar OMIM RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28191889 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29430593 PMID:30167850 PMID:30771478 PMID:31130284 PMID:31589614 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 |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders |
OMIM 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:32190976 PMID:32576985 PMID:32860008 PMID:34298581 PMID:36317458 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 |
OMIM ClinVar |
PMID:25741868 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: FBXO11-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24728327 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: FBXO11-related condition | 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 |
ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
OMIM 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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Rpl10l |
ribosomal protein L10 like |
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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 |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 PMID:32924626 PMID:39033378 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 PMID:38177409 |
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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 PMID:38177409 |
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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 PMID:34580403 More...
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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:28492532 PMID:29758562 PMID:30595499 PMID:31833172 PMID:32409512 More...
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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 ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type OMIM:244450 |
CTD ClinVar MouseDO 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 PMID:36474027 PMID:38177409 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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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: ANKRD11-related condition | 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:15955779 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:26615199 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:29100083 PMID:29258554 PMID:29517769 PMID:29565525 PMID:30182498 PMID:30202406 PMID:30544257 PMID:30919572 PMID:30945278 PMID:31144778 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:32725632 PMID:33144682 PMID:33461977 PMID:33955014 PMID:34012832 PMID:34971082 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35906703 PMID:35970914 PMID:36446582 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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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C19h16orf95 |
similar to human chromosome 16 open reading frame 95 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Car5a |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dbndd1 |
dysbindin 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 chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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Def8 |
differentially expressed in FDCP 8 homolog |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
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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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Fbxo31 |
F-box protein 31 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Galns |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Gas8 |
growth arrest specific 8 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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Il17c |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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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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Klhdc4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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Map1lc3b |
microtubule-associated protein 1 light chain 3 beta |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mc1r |
melanocortin 1 receptor |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Mvd |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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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Slc7a5 |
solute carrier family 7 member 5 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snai3 |
snail family transcriptional repressor 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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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G |
Spire2 |
spire-type actin nucleation factor 2 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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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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Tcf25 |
transcription factor 25 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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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:25125236 PMID:25413698 PMID:25652421 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Tubb3 |
tubulin, beta 3 class III |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zcchc14 |
zinc finger CCHC-type containing 14 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zfp26 |
zinc finger protein 26 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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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: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome |
OMIM ClinVar |
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 |
OMIM ClinVar |
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 PMID:35000503 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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G |
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 |
|
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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G |
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 |
|
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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G |
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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G |
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 |
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation |
OMIM 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 Annotator: match by term: Macrocephaly/autism syndrome |
ClinVar |
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 PMID:24033266 PMID:25669429 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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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 |
OMIM ClinVar MouseDO CTD RGD |
PMID:792966 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:11051241 PMID:11071384 PMID:11156408 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12015762 PMID:12085208 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:16506206 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:18986487 PMID:19265751 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:20533527 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:22320991 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:23764071 PMID:23825907 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24088041 PMID:24123798 PMID:24136893 PMID:24345843 PMID:24375884 PMID:24468202 PMID:24728327 PMID:24763289 PMID:24778394 PMID:24809327 PMID:25132236 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25326637 PMID:25418537 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25937288 PMID:25980754 PMID:26124082 PMID:26229595 PMID:26246517 PMID:26279303 PMID:26467025 PMID:26579216 PMID:26580448 PMID:26612463 PMID:26633542 PMID:26633545 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26800850 PMID:26898890 PMID:27221918 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:28008555 PMID:28086757 PMID:28135145 PMID:28250423 PMID:28251007 PMID:28263967 PMID:28286253 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28755079 PMID:28821194 PMID:29048666 PMID:29273943 PMID:29371908 PMID:29373119 PMID:29389947 PMID:29594054 PMID:29608813 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:30528446 PMID:30544257 PMID:30614812 PMID:30659124 PMID:30720243 PMID:30763456 PMID:30978501 PMID:30993208 PMID:31006514 PMID:31144778 PMID:31159747 PMID:31209962 PMID:31336731 PMID:31567591 PMID:32123317 PMID:32150788 PMID:32238909 PMID:32350270 PMID:32366478 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:34943931 PMID:35227301 PMID:35264596 PMID:35931053 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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G |
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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G |
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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G |
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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G |
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 PMID:36135330 |
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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 |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25533962 PMID:25741868 PMID:28726809 PMID:32277047 PMID:33768696 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
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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G |
Fkbp8 |
FKBP prolyl isomerase 8 |
|
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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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
|
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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G |
Glt8d2 |
glycosyltransferase 8 domain containing 2 |
|
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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G |
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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G |
Grk6 |
G protein-coupled receptor kinase 6 |
|
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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G |
Hdlbp |
high density lipoprotein binding protein |
|
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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G |
Hk3 |
hexokinase 3 |
|
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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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
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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G |
Lman2 |
lectin, mannose-binding 2 |
|
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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G |
Med13l |
mediator complex subunit 13L |
|
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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G |
Mtrex |
Mtr4 exosome RNA helicase |
|
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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G |
Mxd3 |
Max dimerization protein 3 |
|
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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G |
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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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
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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G |
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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G |
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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G |
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 |
|
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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G |
Nup205 |
nucleoporin 205 |
|
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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G |
Pah |
phenylalanine hydroxylase |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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) |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29419869 PMID:30334930 |
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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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 2 |
OMIM ClinVar |
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 PMID:30730599 PMID:33306828 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 |
OMIM ClinVar |
PMID:9536098 PMID:14638541 PMID:17576681 PMID:22542183 PMID:24781760 PMID:24896178 PMID:25167861 PMID:25712080 PMID:25741868 PMID:25741869 PMID:25758992 PMID:26046367 PMID:28492532 PMID:28554332 PMID:28645799 PMID:28708303 PMID:29511999 PMID:30504930 PMID:31785789 PMID:35887114 PMID:36135330 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 |
ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10521292 PMID:10545612 PMID:11857736 PMID:16140555 PMID:19767586 PMID:20376792 PMID:22023169 PMID:23290074 PMID:24222232 PMID:24634175 PMID:25741868 PMID:28056872 PMID:28492532 PMID:28505335 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 |
|
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 |
ClinVar Annotator: match by term: KIF11-related condition | 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 ClinVar |
PMID:9536098 PMID:15930898 PMID:16199547 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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO ISS |
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM:235730 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO 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:23322667 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24092421 PMID:24401652 PMID:24715670 PMID:25123255 PMID:25326635 PMID:25326637 PMID:25497574 PMID:25608121 PMID:25741868 PMID:25899569 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26661037 PMID:26809768 PMID:27831545 PMID:27848944 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:29159939 PMID:29263819 PMID:29300384 PMID:30083364 PMID:30293987 PMID:30315573 PMID:31130284 PMID:31178897 PMID:31376723 PMID:31785789 PMID:32860008 PMID:33565190 PMID:34298581 PMID:36406119 PMID:36474027 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 |
|
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: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | 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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Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME |
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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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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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 PMID:38177409 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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Hdac4 |
histone deacetylase 4 |
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ISO |
ClinVar Annotator: match by term: HDAC4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies |
OMIM ClinVar |
PMID:10958686 PMID:11486037 PMID:25741868 PMID:28492532 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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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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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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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 | ClinVar Annotator: match by term: ZMIZ1-related condition |
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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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:25741868 PMID:36608681 |
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NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
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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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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 PMID:36255738 |
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NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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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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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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Madd |
MAP-kinase activating death domain |
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ISO |
ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28940097 PMID:29302074 PMID:32761064 |
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NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:32822602 |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Rnaseh2c |
ribonuclease H2, subunit C |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |
ClinVar |
PMID:25741868 PMID:32822602 |
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NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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Tmem147 |
transmembrane protein 147 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:36044892 |
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NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868
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Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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Fra10ac1 |
FRA10A associated CGG repeat 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:34694367 PMID:35821753 PMID:35871492 |
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NCBI chr 1:235,969,071...236,001,074
Ensembl chr 1:235,969,112...236,001,210
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Gnb2 |
G protein subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358 |
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NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
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Rnu4-2 |
RNA, U4 small nuclear 2 |
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ISO |
ClinVar Annotator: match by term: ReNU SYNDROME |
OMIM ClinVar |
PMID:25741868 PMID:38821540 PMID:38859706 |
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NCBI chr 5:124,264,229...124,264,369
Ensembl chr 5:124,264,229...124,264,369
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G |
Sirt4 |
sirtuin 4 |
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ISO |
ClinVar Annotator: match by term: ReNU SYNDROME |
ClinVar |
PMID:25741868 PMID:38821540 PMID:38859706 |
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NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 PMID:32439617 PMID:34438093 PMID:35146895 More...
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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G |
Pgm2l1 |
phosphoglucomutase 2-like 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities |
OMIM ClinVar |
PMID:28492532 PMID:33979636 |
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NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
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G |
Wbp4 |
WW domain binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities |
ClinVar OMIM |
PMID:25741868 PMID:37963460 |
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NCBI chr15:54,862,700...54,890,668
Ensembl chr15:54,862,843...54,890,647
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G |
Ubap2l |
ubiquitin associated protein 2-like |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:35977029 |
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NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
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G |
Dohh |
deoxyhypusine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment |
OMIM ClinVar |
PMID:25741868 PMID:35858628 |
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NCBI chr 7:8,321,466...8,326,305
Ensembl chr 7:8,321,466...8,326,289
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G |
Zfp668 |
zinc finger protein 668 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies |
OMIM ClinVar |
PMID:26633546 PMID:34313816 |
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NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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G |
Setd1a |
SET domain containing 1A, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies | ClinVar Annotator: match by term: SETD1A-related condition |
OMIM ClinVar |
PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 PMID:32346159 PMID:36672956 More...
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NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
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G |
Rac3 |
Rac family small GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:29276006 PMID:30293988 PMID:35851598 PMID:38214746 |
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NCBI chr10:106,002,808...106,005,243
Ensembl chr10:105,993,087...106,005,260
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Filip1 |
filamin A interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Neuromuscular disorder, congenital, with dysmorphic facies |
OMIM ClinVar |
PMID:36943452 PMID:37163662 |
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NCBI chr 8:80,761,283...80,956,556
Ensembl chr 8:80,764,604...80,922,549
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
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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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability-sparse hair-brachydactyly syndrome | ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 PMID:22426308 PMID:22822383 PMID:23752187 PMID:23929686 PMID:24090879 PMID:25169058 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27099726 PMID:27399259 PMID:27479843 PMID:27665729 PMID:28333917 PMID:28424519 PMID:28492532 PMID:28824374 PMID:30459321 PMID:31785789 PMID:32694869 PMID:35887114 More...
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Pik3c2a |
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha |
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ISO |
ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31034465 |
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NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
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G |
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 | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome 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:28191890 PMID:28492532 PMID:28758091 PMID:30353918 PMID:30569622 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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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: 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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G |
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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Bcl2 |
BCL2, apoptosis regulator |
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ISS |
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MouseDO |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Gpc6 |
glypican 6 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive omodysplasia | ClinVar Annotator: match by term: Omodysplasia generalized form CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19481194 PMID:25741868 PMID:28492532 |
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NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
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Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant omodysplasia |
OMIM ClinVar |
PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:30455931 PMID:35047859 More...
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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G |
Tubgcp2 |
tubulin gamma complex component 2 |
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ISO |
ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 |
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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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G |
Ptf1a |
pancreas associated transcription factor 1a |
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ISO |
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 More...
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NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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G |
Tbl1xr1 |
TBL1X/Y related 1 |
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ISO ISS |
OMIM:602342 ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 PMID:18414213 PMID:19760657 PMID:21156281 PMID:21156282 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27133561 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:29777588 PMID:30365874 PMID:30577886 PMID:31394400 PMID:31618753 PMID:32369273 PMID:32619424 PMID:32932517 PMID:33527360 PMID:35165208 More...
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NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
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G |
Ddx54 |
DEAD-box helicase 54 |
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ISO |
ClinVar Annotator: match by term: Renal hypoplasia |
ClinVar |
PMID:25741868 PMID:31256877 PMID:32165824 |
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NCBI chr12:35,934,713...35,949,956
Ensembl chr12:35,934,716...35,972,523
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G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Renal hypoplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Renal hypoplasia |
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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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Renal hypoplasia |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G |
Prmt7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Renal hypoplasia |
ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
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NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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G |
Ret |
ret proto-oncogene |
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ISO |
DNA:SNP:exon 7:rs1800860 (human) |
RGD |
PMID:18820179 |
RGD:155641253 |
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Wnt9b |
Wnt family member 9B |
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ISO |
ClinVar Annotator: match by term: Renal hypoplasia |
ClinVar |
PMID:34145744 |
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NCBI chr10:88,635,330...88,657,035
Ensembl chr10:88,635,331...88,657,035
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G |
Knstrn |
kinetochore-localized astrin/SPAG5 binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic |
OMIM CTD ClinVar |
PMID:19863561 PMID:29180244 |
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NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
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ISO |
ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:28492532 PMID:29180244 PMID:29921932 PMID:31045771 PMID:32581362 PMID:33995405 PMID:35189965 PMID:36703223 More...
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NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Atr |
ATR serine/threonine kinase |
susceptibility |
ISO |
DNA:point mutation:2101A>G (human) ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 PMID:16199547 PMID:17010193 PMID:17576681 PMID:18414213 PMID:21228398 PMID:23111928 PMID:23144622 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26689913 PMID:26845104 PMID:28492532 PMID:28518168 PMID:29439820 PMID:30159786 PMID:30199583 PMID:30262796 PMID:30995915 PMID:32461654 PMID:32522261 PMID:32606146 PMID:33057211 PMID:34008015 PMID:12640452 PMID:19620979 More...
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RGD:1599404, RGD:10053614 |
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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G |
Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Seckel syndrome 1 |
ClinVar |
PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 |
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NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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G |
Cep152 |
centrosomal protein 152 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131973 |
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NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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G |
Pcnt |
pericentrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18157127 |
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NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Cript |
CXXC repeat containing interactor of PDZ3 domain |
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ISO |
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies |
OMIM ClinVar |
PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 PMID:37013901 More...
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NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399
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G |
Pigf |
phosphatidylinositol glycan anchor biosynthesis, class F |
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ISO |
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies |
ClinVar |
PMID:27250922 |
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NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675
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G |
Exosc2 |
exosome component 2 |
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ISO |
ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
OMIM ClinVar |
PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 PMID:28492532 PMID:31628467 PMID:34162742 More...
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NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
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G |
Polr3gl |
RNA polymerase III subunit GL |
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ISO |
ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay |
OMIM ClinVar |
PMID:25741868 PMID:31089205 PMID:31695177 |
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NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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G |
Poc1a |
POC1 centriolar protein A |
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ISO |
ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis |
OMIM ClinVar |
PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 PMID:26791357 PMID:28492532 PMID:30569574 PMID:34627339 PMID:35234134 More...
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NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
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NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Ins1 |
insulin 1 |
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ISO |
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 |
ClinVar |
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
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NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
OMIM ClinVar |
PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 PMID:28492532 PMID:29463886 PMID:29758562 PMID:30192042 PMID:30397230 PMID:32483341 PMID:33358638 PMID:35346573 PMID:36114283 More...
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NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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G |
Naa38 |
N(alpha)-acetyltransferase 38, NatC auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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G |
Scarna21 |
small Cajal body-specific RNA 21 |
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ISO |
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
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G |
Pam16 |
presequence translocase associated motor 16 |
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ISO |
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type |
OMIM ClinVar |
PMID:24786642 PMID:27354339 PMID:28492532 |
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NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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G |
Kdm6b |
lysine demethylase 6B |
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ISO |
ClinVar Annotator: match by term: KDM6B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31124279 PMID:37196654 |
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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 |
Aff2 |
ALF transcription elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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G |
Camta1 |
calmodulin binding transcription activator 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 PMID:19377476 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25741869 PMID:25985138 PMID:27130160 PMID:27884935 PMID:28492532 PMID:29118367 PMID:29180823 PMID:30797980 PMID:35887114 More...
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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G |
Rap1b |
RAP1B, member of RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies |
OMIM ClinVar |
PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 PMID:35451551 PMID:37850357 More...
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NCBI chr 7:53,423,039...53,456,349
Ensembl chr 7:53,423,130...53,456,370
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G |
Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay |
OMIM ClinVar |
PMID:10411937 PMID:25255767 PMID:25741868 PMID:26583190 PMID:28492532 PMID:29220674 PMID:30315159 PMID:30733661 PMID:34948243 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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G |
Nelfe |
negative elongation factor complex member E |
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ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
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G |
Skic2 |
SKI2 subunit of superkiller complex |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
CTD ClinVar |
PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:33098347 PMID:33249554 PMID:35607352 More...
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NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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G |
Skic3 |
SKI3 subunit of superkiller complex |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28492532 PMID:29527791 PMID:33864888 PMID:34037310 PMID:35108801 PMID:35464432 More...
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NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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G |
Agk |
acylglycerol kinase |
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ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 |
ClinVar |
PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28868593 More...
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NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
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G |
Skic3 |
SKI3 subunit of superkiller complex |
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ISO |
ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 |
OMIM ClinVar |
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28292286 PMID:28492532 PMID:28750028 PMID:29527791 PMID:33864888 PMID:34093558 PMID:35108801 PMID:35366317 More...
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NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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G |
Skic2 |
SKI2 subunit of superkiller complex |
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ISO |
ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27050310 PMID:27431780 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:32313153 PMID:32963807 PMID:33098347 PMID:33249554 PMID:35607352 More...
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NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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G |
Aard |
alanine and arginine rich domain containing protein |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317
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G |
Ccn3 |
cellular communication network factor 3 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019
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G |
Colec10 |
collectin subfamily member 10 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
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G |
Eif3h |
eukaryotic translation initiation factor 3, subunit H |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:83,091,037...83,174,451
Ensembl chr 7:83,091,039...83,174,451
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G |
Enpp2 |
ectonucleotide pyrophosphatase/phosphodiesterase 2 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
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G |
Ext1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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G |
Mal2 |
mal, T-cell differentiation protein 2 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429
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G |
Med30 |
mediator complex subunit 30 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:84,004,735...84,026,474
Ensembl chr 7:84,004,722...84,026,595
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G |
Rad21 |
RAD21 cohesin complex component |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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G |
Samd12 |
sterile alpha motif domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
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G |
Slc30a8 |
solute carrier family 30 member 8 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
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G |
Taf2 |
TATA-box binding protein associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Trps1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 PMID:14560312 PMID:15367484 PMID:16199547 PMID:17576681 PMID:17854380 PMID:18946009 PMID:19694891 PMID:20394624 PMID:21850686 PMID:22964620 PMID:23451857 PMID:23572024 PMID:23621477 PMID:23691375 PMID:24357341 PMID:24502542 PMID:24945424 PMID:25741868 PMID:25792522 PMID:26113321 PMID:27826100 PMID:28050602 PMID:28170084 PMID:28244134 PMID:28426188 PMID:28468609 PMID:28492532 PMID:29095814 PMID:29499646 PMID:30143558 PMID:30458885 PMID:30541476 PMID:30914275 PMID:31502745 PMID:31884116 PMID:32844440 PMID:33073934 More...
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NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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G |
Utp23 |
UTP23, small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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G |
Cisd3 |
CDGSH iron sulfur domain 3 |
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ISO |
ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
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G |
Pcgf2 |
polycomb group ring finger 2 |
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ISO |
ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome |
OMIM ClinVar |
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 PMID:30343942 More...
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NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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G |
Hpse2 |
heparanase 2 (inactive) |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ochoa syndrome OMIM:236730 | OMIM:615112 |
CTD ClinVar MouseDO |
PMID:16199547 PMID:20560209 PMID:20560210 PMID:25145936 PMID:25510506 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:241,582,904...242,284,348
Ensembl chr 1:241,583,187...242,246,118
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G |
Lrig2 |
leucine-rich repeats and immunoglobulin-like domains 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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G |
Hpse2 |
heparanase 2 (inactive) |
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ISO |
ClinVar Annotator: match by term: HPSE2-related condition | ClinVar Annotator: match by term: Urofacial syndrome type 1 |
OMIM ClinVar |
PMID:11446407 PMID:16199547 PMID:19669792 PMID:19839856 PMID:20560209 PMID:20560210 PMID:21332471 PMID:25145936 PMID:25510506 PMID:25741868 PMID:27151922 PMID:28492532 PMID:30143558 More...
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NCBI chr 1:241,582,904...242,284,348
Ensembl chr 1:241,583,187...242,246,118
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G |
Lrig2 |
leucine-rich repeats and immunoglobulin-like domains 2 |
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ISO |
ClinVar Annotator: match by term: Urofacial syndrome 2 |
OMIM ClinVar |
PMID:23313374 PMID:25741868 |
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NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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G |
Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome |
OMIM ClinVar |
PMID:11102932 PMID:19716112 PMID:24634512 PMID:25741868 PMID:26467025 PMID:26933038 PMID:28492532 More...
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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Puf60 |
poly-U binding splicing factor 60 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: Verheij syndrome |
OMIM ClinVar |
PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 PMID:28327570 PMID:28471317 PMID:28492532 PMID:29300383 PMID:30352594 PMID:35322241 PMID:36367278 PMID:37303278 PMID:38177409 More...
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NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531
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Qrich1 |
glutamine-rich 1 |
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ISO |
ClinVar Annotator: match by term: Ververi-Brady syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28692176 PMID:30281152 PMID:33009816 PMID:34859529 |
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NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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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: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
OMIM ClinVar |
PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 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:29276005 PMID:29276034 PMID:29453417 PMID:29574747 PMID:30305169 PMID:30315573 PMID:30549396 PMID:31157197 PMID:31337854 PMID:31785789 PMID:32860008 PMID:33004838 PMID:33043602 PMID:33783954 PMID:35163737 PMID:37025457 PMID:38177409 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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