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G
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Adamtsl2
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ADAMTS-like 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18677313 |
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NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635
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G
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Hoxa13
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homeo box A13
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ISO
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hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter
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RGD |
PMID:9020844 |
RGD:1599526 |
NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701
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G
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L1cam
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L1 cell adhesion molecule
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7920660 |
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NCBI chr X:156,748,597...156,775,116
Ensembl chr X:156,748,597...156,775,077
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G
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Lmna
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lamin A/C
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:15996213 |
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NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
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G
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Pax3
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paired box 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:14556253 |
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NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141
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G
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Pthlh
|
parathyroid hormone-like hormone
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20170896 |
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NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454
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G
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Sox9
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SRY-box transcription factor 9
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19639023 |
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NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250
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G
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Tfap2b
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transcription factor AP-2 beta
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:10802654 |
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NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568
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G
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Tp63
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tumor protein p63
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:11462173 |
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NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177
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G
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Fgd1
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FYVE, RhoGEF and PH domain containing 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome
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CTD ClinVar |
PMID:000740980 PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:19344873 PMID:20082460 PMID:21739585 PMID:21965325 PMID:23211637 PMID:23375260 PMID:25046119 PMID:25741868 PMID:26029706 PMID:27535533 PMID:27959697 PMID:28492532 PMID:29276006 PMID:39033378 PMID:39900177 More...
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NCBI chr X:23,466,791...23,509,773
Ensembl chr X:23,467,530...23,509,979
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G
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Tsr2
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TSR2, ribosome maturation factor
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ISO
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ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:23,507,141...23,515,711
Ensembl chr X:23,507,142...23,515,659
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G
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Lmbr1
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limb development membrane protein 1
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ISO ISS
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ClinVar Annotator: match by term: Acheiropodia OMIM:200500 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876 |
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NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238
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G
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Bhlha9
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basic helix-loop-helix family, member a9
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ISO
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ClinVar Annotator: match by term: Gollop-Wolfgang complex
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ClinVar |
PMID:25741868 |
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NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908
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G
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Trarg1
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trafficking regulator of GLUT4 (SLC2A4) 1
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ISO
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ClinVar Annotator: match by term: Gollop-Wolfgang complex
|
ClinVar |
PMID:25741868 |
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NCBI chr10:62,019,281...62,039,666
Ensembl chr10:62,019,189...62,039,648
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G
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Hdac4
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histone deacetylase 4
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ISO
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ClinVar Annotator: match by term: Brachydactyly syndrome type E
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ClinVar |
PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 |
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NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637
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G
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Hoxd13
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homeo box D13
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ISO
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ClinVar Annotator: match by term: Brachydactyly type E1
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OMIM ClinVar |
PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:18399101 PMID:19075394 PMID:22233338 PMID:22373878 PMID:22406499 PMID:25741868 PMID:28492532 PMID:31870337 PMID:34159400 PMID:34777468 More...
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Pth1r
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parathyroid hormone 1 receptor
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ISO
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ClinVar Annotator: match by term: Brachydactyly type E1
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108
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G
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Pthlh
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parathyroid hormone-like hormone
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ISO
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ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition
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OMIM ClinVar |
PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 PMID:29947179 PMID:31283647 PMID:38702915 More...
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NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454
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G
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Prg4
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proteoglycan 4
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ISO
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ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:10545950 PMID:25741868 PMID:29397575 PMID:31680123 PMID:32860008 |
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NCBI chr13:65,037,363...65,054,764
Ensembl chr13:65,037,363...65,054,508
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G
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Tpr
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translocated promoter region, nuclear basket protein
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ISO
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ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
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ClinVar |
PMID:25741868 PMID:29397575 |
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NCBI chr13:64,974,419...65,037,604
Ensembl chr13:64,974,419...65,037,602
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G
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Fgfr3
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fibroblast growth factor receptor 3
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|
ISO
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ClinVar Annotator: match by term: CATSHL SYNDROME | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome | ClinVar Annotator: match by term: FGFR3-related CATSHL syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12362036 PMID:12624096 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16199547 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:27139183 PMID:28230213 PMID:28252636 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30311386 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32360156 PMID:32502767 PMID:33942288 PMID:34930662 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Pitx1
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paired-like homeodomain 1
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ISO
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ClinVar Annotator: match by term: Liebenberg syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476
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G
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Kynu
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kynureninase
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ISO
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ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME
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ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
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NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014
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G
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Tgds
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TDP-glucose 4,6-dehydratase
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ISO
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ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition
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OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
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NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718
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G
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Arid1a
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AT-rich interaction domain 1A
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome
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CTD ClinVar MouseDO |
PMID:22426308 PMID:25741868 PMID:28492532 |
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NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
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G
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Arid1b
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AT-rich interaction domain 1B
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ISO
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DNA:frameshift,nonsense mutations, haploinsufficiency:cds: ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 PMID:26376624 PMID:28492532 PMID:34356170 PMID:24674232 More...
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RGD:11526783 |
NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793
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G
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Arid2
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AT-rich interaction domain 2
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome
|
ClinVar |
PMID:25741868 |
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NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187
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G
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Dpf2
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double PHD fingers 2
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289
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G
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Kdm8
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lysine demethylase 8
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome
|
ClinVar |
PMID:25741868 |
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NCBI chr 1:189,444,527...189,459,507
Ensembl chr 1:189,444,555...189,459,491
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G
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Smarca2
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SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
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CTD ClinVar |
PMID:18414213 PMID:22426308 PMID:28512736 |
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NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869
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G
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Smarca4
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SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome
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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 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
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G
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Smarcb1
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SWI/SNF related BAF chromatin remodeling complex subunit B1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome
|
CTD ClinVar |
PMID:10521299 PMID:16199547 PMID:18285426 PMID:18647326 PMID:21108436 PMID:21208904 PMID:22426308 PMID:22434358 PMID:22703879 PMID:22726846 PMID:22949514 PMID:23906836 PMID:24728327 PMID:24933152 PMID:25168959 PMID:25326635 PMID:25631985 PMID:25741868 PMID:26364901 PMID:28492532 PMID:29517885 PMID:29907796 PMID:31172278 PMID:31273213 PMID:31759698 PMID:34747535 PMID:34906496 More...
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NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055
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G
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Smarce1
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SWI/SNF related BAF chromatin remodeling complex subunit E1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22426308 |
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NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185
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G
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Sox11
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SRY-box transcription factor 11
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ISO
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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 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691
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G
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Arid1a
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AT-rich interaction domain 1A
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
|
ClinVar |
PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 |
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NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
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G
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Arid1b
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AT-rich interaction domain 1B
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ISO ISS
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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
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OMIM ClinVar MouseDO |
PMID:1724113 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:26376624 PMID:26506440 PMID:26822237 PMID:27391121 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28191889 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:31406558 PMID:31530938 PMID:31618753 PMID:32161024 PMID:32277047 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34374989 PMID:34706719 PMID:35904121 PMID:37500730 PMID:37643963 PMID:39825153 More...
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NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793
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G
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Arid2
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AT-rich interaction domain 2
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ISO
|
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
|
ClinVar |
PMID:25741868 |
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NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187
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G
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Arsl
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arylsulfatase L
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 1
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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 2:120,966,992...120,975,015
Ensembl chr 2:120,966,950...120,975,011
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G
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Bicra
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BRD4 interacting chromatin remodeling complex associated protein
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 1
|
ClinVar |
PMID:25741868 |
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NCBI chr 1:85,790,093...85,867,656
Ensembl chr 1:85,790,093...85,864,306
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G
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Dpf2
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double PHD fingers 2
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 1
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ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289
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G
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Smarca2
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SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
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ISO
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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 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869
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G
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Smarca4
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SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
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ISO
|
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
|
ClinVar |
PMID:25741868 |
|
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
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G
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Smarcc2
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SWI/SNF related BAF chromatin remodeling complex subunit C2
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ISO
|
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
|
ClinVar |
PMID:25741868 |
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NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626
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G
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Sox4
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SRY-box transcription factor 4
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 1
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ClinVar |
PMID:25741868 |
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NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024
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G
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Sox4
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SRY-box transcription factor 4
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 PMID:36307859 PMID:36834931 More...
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NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024
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G
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Smarcd1
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SWI/SNF related BAF chromatin remodeling complex subunit D1
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 11
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OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI chr 7:132,708,627...132,719,167
Ensembl chr 7:132,708,432...132,719,167
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G
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Bicra
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BRD4 interacting chromatin remodeling complex associated protein
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ISO
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ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12
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OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 PMID:37500730 |
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NCBI chr 1:85,790,093...85,867,656
Ensembl chr 1:85,790,093...85,864,306
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G
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Actn4
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actinin alpha 4
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ISO
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ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
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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 1:93,310,294...93,379,369
Ensembl chr 1:93,310,278...93,379,320
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G
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Arid1a
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AT-rich interaction domain 1A
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ISO
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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
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OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:24033266 PMID:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 PMID:30976395 PMID:32888375 PMID:34942405 PMID:35353340 PMID:36135330 PMID:36474027 PMID:39825153 More...
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NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
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G
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Hr
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HR, lysine demethylase and nuclear receptor corepressor
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ISO
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ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
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ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 |
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NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015
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G
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Derl3
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derlin 3
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ISO
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ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
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ClinVar |
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NCBI chr20:12,753,926...12,766,478
Ensembl chr20:12,762,981...12,766,477
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G
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Mmp11
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matrix metallopeptidase 11
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ISO
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ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
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ClinVar |
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NCBI chr20:12,730,284...12,739,067
Ensembl chr20:12,730,277...12,739,290
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G
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Smarcb1
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SWI/SNF related BAF chromatin remodeling complex subunit B1
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ISO
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ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
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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:26001331 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 PMID:29907796 PMID:30555950 PMID:31172278 PMID:31273213 PMID:31759698 PMID:33024572 PMID:34906496 More...
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NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055
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G
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Smarca4
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SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
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ISO
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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
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OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:15756273 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:27479843 PMID:27701467 PMID:27760138 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:30459321 PMID:30973214 PMID:31097095 PMID:31216405 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31819260 PMID:31827798 PMID:31874108 PMID:32376391 PMID:32461654 PMID:32686290 PMID:33020650 PMID:33057194 PMID:33461977 PMID:33558524 PMID:33680622 PMID:34593967 PMID:34813034 PMID:34906459 PMID:34930489 PMID:35047860 PMID:35468861 PMID:35796094 PMID:35904974 PMID:35982159 PMID:36474027 PMID:37460928 PMID:37500730 PMID:38136308 PMID:38177409 More...
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NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
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G
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Smarce1
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SWI/SNF related BAF chromatin remodeling complex subunit E1
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 5
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ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 PMID:35980532 PMID:37500730 More...
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NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185
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G
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Arid2
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AT-rich interaction domain 2
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ISO
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ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6
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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 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187
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G
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Gigyf1
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GRB10 interacting GYF protein 1
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 6
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ClinVar |
PMID:25741868 PMID:35917186 |
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NCBI chr12:24,800,996...24,819,719
Ensembl chr12:24,802,865...24,811,800
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G
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Dpf2
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double PHD fingers 2
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 |
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NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289
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G
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Smarcc2
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SWI/SNF related BAF chromatin remodeling complex subunit C2
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ISO
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ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition
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OMIM ClinVar |
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 PMID:30580808 PMID:33004838 PMID:33461977 PMID:35699097 PMID:37352859 More...
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NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626
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G
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Sox11
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SRY-box transcription factor 11
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ISO
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ClinVar Annotator: match by term: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition
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OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 PMID:32860008 PMID:33086258 PMID:33785884 PMID:35341651 PMID:35642566 PMID:35801292 PMID:35938035 More...
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NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691
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G
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Clcf1
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cardiotrophin-like cytokine factor 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
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G
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Crlf1
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cytokine receptor-like factor 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
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CTD ClinVar |
PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:27976805 PMID:28492532 PMID:31497877 More...
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NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970
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G
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Klhl7
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kelch-like family member 7
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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G
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Crlf1
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cytokine receptor-like factor 1
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ISO
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ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
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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 chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970
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G
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Klhl7
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kelch-like family member 7
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ISO
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ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
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ClinVar |
PMID:21828050 PMID:25741868 PMID:27392078 PMID:30300710 PMID:31230720 PMID:31953236 More...
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NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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G
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Clcf1
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cardiotrophin-like cytokine factor 1
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ISO
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ClinVar Annotator: match by term: Cold-induced sweating syndrome 2
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OMIM ClinVar |
PMID:16782820 PMID:20400119 PMID:25741868 |
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NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
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G
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Klhl7
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kelch-like family member 7
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ISO
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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
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21828050 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31230720 PMID:31953236 PMID:35670385 PMID:35699517 PMID:39825153 More...
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NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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G
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Bhlha9
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basic helix-loop-helix family, member a9
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Camptosynpolydactyly, complex
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OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908
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G
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Met
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MET proto-oncogene, receptor tyrosine kinase
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ISO
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ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
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ClinVar |
PMID:30777867 |
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NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
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G
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Myh8
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myosin heavy chain 8
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ISO
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ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
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ClinVar |
PMID:25741868 |
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NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105
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G
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Tpm2
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tropomyosin 2
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ISO
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ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
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ClinVar |
PMID:17339586 PMID:23401156 PMID:23678273 PMID:24692096 PMID:25741868 PMID:28492532 PMID:29068549 PMID:32092148 PMID:38071834 More...
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NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726
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G
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Aptx
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aprataxin
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790
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G
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Aqp3
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aquaporin 3 (Gill blood group)
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:61,035,166...61,040,685
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G
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Aqp7
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aquaporin 7
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:60,967,558...60,982,618
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G
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Arhgef39
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Rho guanine nucleotide exchange factor 39
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:62,548,303...62,551,870
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G
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Arid3c
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AT-rich interaction domain 3C
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:61,685,511...61,692,821
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G
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Atosb
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atos homolog B
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613
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G
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B4galt1
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beta-1,4-galactosyltransferase 1
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:60,731,602...60,778,445
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G
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Bag1
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BAG cochaperone 1
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:60,864,476...60,878,161
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G
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Ca9
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carbonic anhydrase 9
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626
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G
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Ccdc107
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coiled-coil domain containing 107
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:62,544,714...62,548,709
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G
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Ccin
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calicin
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:63,000,138...63,010,123
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G
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Ccl19
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C-C motif chemokine ligand 19
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022
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G
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Ccl21
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C-C motif chemokine ligand 21
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540
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G
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Ccl27
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C-C motif chemokine ligand 27
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522
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G
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Cd72
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Cd72 molecule
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519
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G
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Chmp5
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charged multivesicular body protein 5
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:60,877,341...60,894,511
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G
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Cimip2b
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ciliary microtubule inner protein 2B
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:62,470,367...62,478,198
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G
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Clta
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clathrin, light chain A
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:63,041,184...63,059,215
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G
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Cntfr
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ciliary neurotrophic factor receptor
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:61,619,326...61,645,795
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G
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Cntnap1
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contactin associated protein 1
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
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NCBI chr10:86,610,140...86,625,896
Ensembl chr10:86,611,890...86,631,730
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G
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Creb3
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cAMP responsive element binding protein 3
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500
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G
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Dcaf12
|
DDB1 and CUL4 associated factor 12
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,256,353...61,278,155
Ensembl chr 5:61,256,353...61,278,119
|
|
G
|
Dctn3
|
dynactin subunit 3
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:61,676,950...61,684,903
|
|
G
|
Dnai1
|
dynein, axonemal, intermediate chain 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810
|
|
G
|
Dnaja1
|
DnaJ heat shock protein family (Hsp40) member A1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,638,404...60,649,315
Ensembl chr 5:60,638,410...60,650,160
|
|
G
|
Dnajb5
|
DnaJ heat shock protein family (Hsp40) member B5
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860
|
|
G
|
Enho
|
energy homeostasis associated
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:61,596,860...61,598,657
|
|
G
|
Exosc3
|
exosome component 3
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:64,369,495...64,374,902
|
|
G
|
Fam219a
|
family with sequence similarity 219, member A
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,475,185...61,525,749
Ensembl chr 5:61,475,185...61,525,749
|
|
G
|
Fam221b
|
family with sequence similarity 221, member B
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:62,706,122...62,715,137
|
|
G
|
Fancg
|
FA complementation group G
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787
|
|
G
|
Fbxo10
|
F-box protein 10
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,092,709...64,139,054
Ensembl chr 5:64,092,709...64,160,923
|
|
G
|
Frmpd1
|
FERM and PDZ domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,238,730...64,340,778
Ensembl chr 5:64,238,768...64,340,776
|
|
G
|
Galt
|
galactose-1-phosphate uridylyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125
|
|
G
|
Gba2
|
glucosylceramidase beta 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308
|
|
G
|
Glipr2
|
GLI pathogenesis-related 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716
|
|
G
|
Gne
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251
|
|
G
|
Grhpr
|
glyoxylate and hydroxypyruvate reductase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276
|
|
G
|
Hint2
|
histidine triad nucleotide binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915
|
|
G
|
Hrct1
|
histidine rich carboxyl terminus 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:62,778,112...62,778,954
|
|
G
|
Il11ra1
|
interleukin 11 receptor subunit alpha 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264
|
|
G
|
Kif24
|
kinesin family member 24
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,357,078...61,423,882
Ensembl chr 5:61,357,940...61,399,379
|
|
G
|
Melk
|
maternal embryonic leucine zipper kinase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:63,336,106...63,396,247
|
|
G
|
Met
|
MET proto-oncogene, receptor tyrosine kinase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:30777867 |
|
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
|
|
G
|
Msmp
|
microseminoprotein, prostate associated
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:62,634,721...62,635,970
|
|
G
|
Myh3
|
myosin heavy chain 3
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
|
|
G
|
Myh8
|
myosin heavy chain 8
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105
|
|
G
|
Myorg
|
myogenesis regulating glycosidase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581
|
|
G
|
Ndufb6
|
NADH:ubiquinone oxidoreductase subunit B6
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,196,585...60,206,152
Ensembl chr 5:60,196,585...60,206,055
|
|
G
|
Nfx1
|
nuclear transcription factor, X-box binding 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,900,140...60,958,889
Ensembl chr 5:60,901,217...60,958,889
|
|
G
|
Nol6
|
nucleolar protein 6
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:61,055,863...61,083,264
|
|
G
|
Npr2
|
natriuretic peptide receptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343
|
|
G
|
Nudt2
|
nudix hydrolase 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:61,424,053...61,439,015
|
|
G
|
Or13c7
|
olfactory receptor family 13 subfamily C member 7
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:62,876,908...62,877,867
|
|
G
|
Or13j1
|
olfactory receptor family 13 subfamily J member 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:62,757,159...62,758,097
|
|
G
|
Pax5
|
paired box 5
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:63,560,722...63,739,987
|
|
G
|
Phf24
|
PHD finger protein 24
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:61,939,900...61,966,875
|
|
G
|
Pigo
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075
|
|
G
|
Polr1e
|
RNA polymerase I subunit E
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,075,123...64,090,900
Ensembl chr 5:64,075,122...64,091,039
|
|
G
|
Prss3
|
serine protease 3
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:71,169,749...71,173,223
|
|
G
|
Reck
|
reversion-inducing-cysteine-rich protein with kazal motifs
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270
|
|
G
|
Rgp1
|
RGP1 homolog, RAB6A GEF complex partner 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:62,630,133...62,638,864
|
|
G
|
Rig1
|
RNA sensor RIG-1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
|
|
G
|
Rnf38
|
ring finger protein 38
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,154,507...63,263,138
Ensembl chr 5:63,154,507...63,263,137
|
|
G
|
Rpp25l
|
ribonuclease P/MRP subunit p25 like
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168
|
|
G
|
Rusc2
|
RUN and SH3 domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314
|
|
G
|
Sigmar1
|
sigma non-opioid intracellular receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855
|
|
G
|
Sit1
|
signaling threshold regulating transmembrane adaptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:62,536,009...62,537,911
|
|
G
|
Smu1
|
SMU1, DNA replication regulator and spliceosomal factor
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,652,680...60,671,251
Ensembl chr 5:60,652,680...60,671,251
|
|
G
|
Spag8
|
sperm associated antigen 8
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:62,693,122...62,699,664
|
|
G
|
Spata31f1
|
SPATA31 subfamily F member 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:61,861,071...61,878,519
|
|
G
|
Spata31g1
|
SPATA31 subfamily G member 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:61,995,800...61,999,889
|
|
G
|
Spink4
|
serine peptidase inhibitor, Kazal type 4
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,811,899...60,860,823
Ensembl chr 5:60,849,060...60,860,823
|
|
G
|
Spmip6
|
sperm microtubule inner protein 6
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:61,462,070...61,474,774
|
|
G
|
Stoml2
|
stomatin like 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670
|
|
G
|
Tesk1
|
testis associated actin remodelling kinase 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492
|
|
G
|
Tln1
|
talin 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:62,583,731...62,613,687
|
|
G
|
Tmem215
|
transmembrane protein 215
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,408,587...60,411,841
Ensembl chr 5:60,406,763...60,413,601
|
|
G
|
Tmem8b
|
transmembrane protein 8B
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:62,715,203...62,744,174
|
|
G
|
Tomm5
|
translocase of outer mitochondrial membrane 5
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,158,026...64,160,857
|
|
G
|
Topors
|
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706
|
|
G
|
Tpm2
|
tropomyosin 2
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
OMIM ClinVar |
PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 PMID:17194691 PMID:17339586 PMID:17576681 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19047562 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22749895 PMID:22832343 PMID:22980765 PMID:23401156 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24214167 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:29068549 PMID:30545627 PMID:31966463 PMID:32092148 PMID:33060286 PMID:35052370 PMID:35579956 PMID:38071834 More...
|
|
NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726
|
|
G
|
Trmt10b
|
tRNA methyltransferase 10B
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:64,344,491...64,368,175
Ensembl chr 5:64,344,545...64,368,172
|
|
G
|
Ubap1
|
ubiquitin-associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:61,316,643...61,357,076
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G
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Ubap2
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ubiquitin-associated protein 2
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:61,144,182...61,232,828
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G
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Ube2r2
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ubiquitin-conjugating enzyme E2R 2
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:61,082,552...61,141,452
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G
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Unc13b
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unc-13 homolog B
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884
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G
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Vcp
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valosin-containing protein
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387
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G
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Zbtb5
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zinc finger and BTB domain containing 5
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:64,039,805...64,062,451
Ensembl chr 5:64,035,080...64,074,912
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G
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Zcchc7
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zinc finger CCHC-type containing 7
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
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ClinVar |
PMID:28492532 |
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NCBI chr 5:63,787,292...63,968,960
Ensembl chr 5:63,788,217...63,968,549
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G
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Mybpc1
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myosin binding protein C1
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B
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OMIM ClinVar |
PMID:18414213 PMID:20045868 PMID:25741868 PMID:28492532 |
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NCBI chr 7:24,817,770...24,903,681
Ensembl chr 7:24,817,561...24,903,544
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G
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Myl11
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myosin light chain 11
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C
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OMIM ClinVar |
PMID:25741868 PMID:32707087 |
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NCBI chr 1:191,257,432...191,263,046
Ensembl chr 1:191,256,196...191,263,045
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G
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Piezo2
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piezo-type mechanosensitive ion channel component 2
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ISO
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ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome
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OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:20813920 PMID:24155313 PMID:24726473 PMID:25712306 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:27912047 PMID:28492532 PMID:30285720 PMID:30988732 PMID:31680123 PMID:36474027 PMID:39033378 More...
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NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215
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G
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Atp6v1c1
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ATPase H+ transporting V1 subunit C1
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ISO
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ClinVar Annotator: match by term: DOORS syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 7:71,719,326...71,757,191
Ensembl chr 7:71,719,404...71,757,184
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G
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Cdh1
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cadherin 1
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ISO
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ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
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ClinVar |
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31465090 |
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NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565
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G
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Opa1
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OPA1, mitochondrial dynamin like GTPase
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ISO
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ClinVar Annotator: match by term: DOORS syndrome
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ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955
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G
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Tbc1d24
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TBC1 domain family, member 24
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ISO
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ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome
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OMIM ClinVar |
PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:28292732 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33229591 PMID:33619735 PMID:33986365 PMID:34020146 PMID:35350397 More...
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NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473
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G
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Cdh3
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cadherin 3
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ISO
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ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 PMID:17576681 PMID:25741868 PMID:27386845 PMID:28041643 PMID:28492532 PMID:29620724 PMID:32483926 PMID:32581362 More...
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NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257
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G
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Tp63
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tumor protein p63
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susceptibility
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ISO ISS
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DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 OMIM:604292 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A)
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ClinVar MouseDO CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:15736220 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24449199 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:30850703 PMID:31050217 PMID:32476291 PMID:32881366 PMID:36099812 PMID:36856110 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177
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G
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Pth1r
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parathyroid hormone 1 receptor
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ISO
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DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BONE MODELING DEFECT OF HANDS AND FEET | ClinVar Annotator: match by term: Eiken syndrome
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CTD ClinVar OMIM RGD |
PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 PMID:15525660 More...
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RGD:12910707 |
NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108
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G
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Sh3pxd2b
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SH3 and PX domains 2B
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: SH3PXD2B-related condition
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OMIM CTD ClinVar |
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:23140272 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 PMID:31931872 PMID:31978614 More...
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NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854
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G
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Flna
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filamin A
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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CTD ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20730588 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26467025 PMID:26471271 PMID:27193221 PMID:27724990 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28659821 PMID:28798025 PMID:29168297 PMID:29720203 PMID:30029678 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30476936 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:36110220 PMID:36734119 PMID:37175682 More...
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NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Hcfc1
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host cell factor C1
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,839,100...156,864,132
Ensembl chr X:156,839,100...156,863,813
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G
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Irak1
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interleukin-1 receptor-associated kinase 1
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,919,927...156,929,825
Ensembl chr X:156,920,081...156,929,825
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G
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Map3k7
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mitogen activated protein kinase kinase kinase 7
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ISO
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CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple (human)
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CTD RGD |
PMID:27426733 |
RGD:11552867 |
NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012
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G
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Mecp2
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methyl CpG binding protein 2
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
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G
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Naa10
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N(alpha)-acetyltransferase 10, NatA catalytic subunit
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,807,378...156,812,632
Ensembl chr X:156,807,378...156,812,574
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G
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Opn1mw
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opsin 1, medium wave sensitive
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,056,355...157,076,716
Ensembl chr X:157,056,355...157,076,716
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G
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Renbp
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renin binding protein
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,812,785...156,821,860
Ensembl chr X:156,812,411...156,821,838
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G
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Tex28
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testis expressed 28
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,076,824...157,110,988
Ensembl chr X:157,076,609...157,093,768
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G
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Tktl1
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transketolase-like 1
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,105,455...157,138,510
Ensembl chr X:157,105,495...157,138,503
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G
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Flna
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filamin A
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ISO
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ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 DNA:missense mutations, deletions:cds:multiple (human)
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OMIM ClinVar RGD |
PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:18414213 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30089473 PMID:30712057 PMID:30986657 PMID:37175682 PMID:16835913 More...
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RGD:11063279 |
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Map3k7
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mitogen activated protein kinase kinase kinase 7
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ISO
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ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2
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OMIM ClinVar |
PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532 |
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NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012
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G
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Wnt7a
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Wnt family member 7A
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ISO ISS
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ClinVar Annotator: match by term: Fuhrmann syndrome | ClinVar Annotator: match by term: WNT7A-related condition OMIM:228930 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:9128926 PMID:12809666 PMID:16826533 PMID:19282404 PMID:21344627 PMID:23266637 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149
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G
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Ltbp3
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latent transforming growth factor beta binding protein 3
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ISO
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ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
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ClinVar |
PMID:25741868 PMID:29625025 |
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NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302
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G
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Smad4
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SMAD family member 4
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ISO
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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: 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: 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
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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:27611364 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28640387 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:29891884 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:35907855 PMID:35943490 PMID:36038259 PMID:36158166 PMID:36175409 PMID:36194927 PMID:38779990 PMID:39825153 PMID:22158539 More...
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RGD:12880042 |
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684
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G
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Hoxa13
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homeo box A13
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ISO ISS
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hand-foot-genital syndrome, OMIM:140000 ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome CTD Direct Evidence: marker/mechanism
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ClinVar MouseDO CTD OMIM RGD |
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 PMID:10839976 PMID:12073020 PMID:12414828 PMID:17935235 PMID:24239177 PMID:25741868 PMID:28492532 PMID:9020844 More...
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RGD:1599526 |
NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701
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G
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Hoxa9
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homeobox A9
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ISO
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ClinVar Annotator: match by term: Hand-foot-genital syndrome
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ClinVar |
|
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NCBI chr 4:82,653,847...82,659,958
Ensembl chr 4:82,653,825...82,662,093
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G
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Lmna
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lamin A/C
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ISO
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ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 PMID:2753225 PMID:4740717 PMID:8619549 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12075506 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12716787 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15053843 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15843404 PMID:15965218 PMID:15996213 PMID:16046620 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16584978 PMID:16585054 PMID:16671095 PMID:16705075 PMID:16715312 PMID:16809772 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18611980 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18808171 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21270786 PMID:21346069 PMID:21400569 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22431096 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22761994 PMID:22883396 PMID:22918509 PMID:23062543 PMID:23142632 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24768879 PMID:24794538 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25163546 PMID:25210889 PMID:25274841 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25793944 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26498160 PMID:26573435 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26900797 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27182706 PMID:27220833 PMID:27332903 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27845687 PMID:27884249 PMID:27896284 PMID:27919367 PMID:27981572 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28349240 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29253866 PMID:29255176 PMID:29431110 PMID:29438482 PMID:29540472 PMID:29551499 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29895224 PMID:29943882 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30122538 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30615648 PMID:30665423 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30919684 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31428229 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32456328 PMID:32461654 PMID:32508047 PMID:32517491 PMID:32616434 PMID:32685188 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32880476 PMID:32913962 PMID:32939435 PMID:33038109 PMID:33258288 PMID:33304817 PMID:33336002 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33500567 PMID:33502018 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34135346 PMID:34240052 PMID:34292171 PMID:34340952 PMID:34363016 PMID:34495297 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34872044 PMID:34935411 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35384599 PMID:35449878 PMID:35526016 PMID:35528128 PMID:35535697 PMID:35653365 PMID:35772917 PMID:35898701 PMID:36264615 PMID:36267857 PMID:36293084 PMID:36299226 PMID:36389384 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36788754 PMID:36971006 PMID:36975868 PMID:37198425 PMID:37246508 PMID:37589201 PMID:37624850 PMID:37639473 PMID:37652022 PMID:37679847 PMID:37685926 PMID:37904629 PMID:38048861 PMID:38247853 PMID:38254962 PMID:38473809 PMID:38489124 PMID:38630155 PMID:38689299 PMID:38691546 PMID:38757491 PMID:38979608 PMID:39825153 More...
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NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO
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ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Hartsfield-Bixler-Demyer syndrome
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OMIM ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:16199547 PMID:16757108 PMID:16764984 PMID:16957473 PMID:17154279 PMID:17530415 PMID:18034870 PMID:19504604 PMID:20536592 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24888332 PMID:25064402 PMID:25251565 PMID:25326635 PMID:25686244 PMID:25741868 PMID:25760602 PMID:26097890 PMID:26931467 PMID:26942290 PMID:27363716 PMID:27558949 PMID:28255231 PMID:28492532 PMID:30257990 PMID:31200363 PMID:31474318 PMID:31748124 PMID:31837199 PMID:32724172 PMID:33983622 PMID:36697561 PMID:37805574 PMID:38172256 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Hyls1
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HYLS1, centriolar and ciliogenesis associated
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ISO
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ClinVar Annotator: match by term: Hydrolethalus syndrome
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ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725
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G
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Kif7
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kinesin family member 7
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ISO ISS
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CTD Direct Evidence: marker/mechanism
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CTD MouseDO |
PMID:21552264 |
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NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890
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G
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Pus3
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pseudouridine synthase 3
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ISO
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ClinVar Annotator: match by term: Hydrolethalus syndrome
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ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:42,168,251...42,176,522
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G
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Hyls1
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HYLS1, centriolar and ciliogenesis associated
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrolethalus syndrome 1
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OMIM CTD ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725
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G
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Kif7
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kinesin family member 7
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890
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G
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Pus3
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pseudouridine synthase 3
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ISO
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ClinVar Annotator: match by term: Hydrolethalus syndrome 1
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ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:42,168,251...42,176,522
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G
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Kif7
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kinesin family member 7
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ISO
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ClinVar Annotator: match by term: Hydrolethalus syndrome 2
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OMIM ClinVar |
PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25131622 PMID:25741868 PMID:26174511 PMID:26633542 PMID:26648833 PMID:27081521 PMID:28492532 PMID:33382518 More...
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NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890
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G
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Sall4
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spalt-like transcription factor 4
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders
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OMIM CTD ClinVar |
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 |
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NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743
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G
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Mgp
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matrix Gla protein
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ISO
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DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human) ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition CTD Direct Evidence: marker/mechanism
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ClinVar CTD OMIM RGD |
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 PMID:9916809 More...
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RGD:1600783 |
NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859
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G
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Lmbr1
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limb development membrane protein 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Laurin-Sandrow syndrome
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OMIM CTD ClinVar |
PMID:16059937 PMID:24456159 |
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NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238
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G
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Flna
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filamin A
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ISO
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ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: OSTEODYSPLASTY OF MELNICK AND NEEDLES | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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OMIM ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20730588 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:26471271 PMID:27193221 PMID:27724990 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28659821 PMID:28798025 PMID:29168297 PMID:29334594 PMID:29575627 PMID:29720203 PMID:30029678 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30476936 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:36110220 PMID:36734119 PMID:37175682 More...
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NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Hcfc1
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host cell factor C1
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,839,100...156,864,132
Ensembl chr X:156,839,100...156,863,813
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G
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Irak1
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interleukin-1 receptor-associated kinase 1
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,919,927...156,929,825
Ensembl chr X:156,920,081...156,929,825
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G
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Mecp2
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methyl CpG binding protein 2
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
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G
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Naa10
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N(alpha)-acetyltransferase 10, NatA catalytic subunit
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,807,378...156,812,632
Ensembl chr X:156,807,378...156,812,574
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G
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Opn1mw
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opsin 1, medium wave sensitive
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,056,355...157,076,716
Ensembl chr X:157,056,355...157,076,716
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G
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Renbp
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renin binding protein
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,812,785...156,821,860
Ensembl chr X:156,812,411...156,821,838
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G
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Tex28
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testis expressed 28
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,076,824...157,110,988
Ensembl chr X:157,076,609...157,093,768
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G
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Tktl1
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transketolase-like 1
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ISO
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ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,105,455...157,138,510
Ensembl chr X:157,105,495...157,138,503
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G
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Rbbp8
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RB binding protein 8, endonuclease
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ISO
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ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: RBBP8-related disorder CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:18071751 PMID:18414213 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 PMID:32379725 More...
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NCBI chr18:3,198,188...3,263,643
Ensembl chr18:3,197,310...3,263,985
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G
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Fgf9
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fibroblast growth factor 9
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ISO
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ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926
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G
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Gdf5
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growth differentiation factor 5
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ISO
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ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:missense mutation:cds:p.R438L(1313G>T)(human)
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ClinVar RGD |
PMID:16532400 |
RGD:12738199 |
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Nog
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noggin
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ISO
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ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:mutation:cds:1426G>C (P.W205C)(Human)
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ClinVar OMIM RGD |
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 PMID:30311386 PMID:10080184 PMID:16151340 More...
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RGD:1600234, RGD:12801467 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Flna
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filamin A
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ISO
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DNA:deletion:cds:c.4904_4912del (human) ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder
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ClinVar RGD |
PMID:15654694 PMID:16596676 PMID:15654694 |
RGD:11565126 |
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Flna
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filamin A
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ISO
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ClinVar Annotator: match by term: OPD SYNDROME 1 | ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I DNA:missense mutation:cds:p.P207L (human) CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD RGD |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:10982489 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15917206 PMID:15940695 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:17264970 PMID:18414213 PMID:20301567 PMID:20979190 PMID:22465605 PMID:22522697 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28492532 PMID:29300383 PMID:30089473 PMID:30143558 PMID:30712057 PMID:30986657 PMID:31942422 PMID:37175682 PMID:12612583 More...
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RGD:1598954 |
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Ofd1
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Ofd1 centriole and centriolar satellite protein
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16783569 |
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NCBI chr X:31,647,000...31,687,768
Ensembl chr X:31,647,000...31,687,884
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G
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Flna
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filamin A
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ISO
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ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II DNA:missense mutation:cds:p.E254K (human) CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD RGD |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15378534 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20730588 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26467025 PMID:26471271 PMID:27193221 PMID:27724990 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28659821 PMID:28798025 PMID:29168297 PMID:29720203 PMID:30029678 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30476936 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:36110220 PMID:36734119 PMID:37175682 PMID:12612583 More...
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RGD:1598954 |
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Hcfc1
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host cell factor C1
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,839,100...156,864,132
Ensembl chr X:156,839,100...156,863,813
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G
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Irak1
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interleukin-1 receptor-associated kinase 1
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,919,927...156,929,825
Ensembl chr X:156,920,081...156,929,825
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G
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Mecp2
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methyl CpG binding protein 2
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
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G
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Naa10
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N(alpha)-acetyltransferase 10, NatA catalytic subunit
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,807,378...156,812,632
Ensembl chr X:156,807,378...156,812,574
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G
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Opn1mw
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opsin 1, medium wave sensitive
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,056,355...157,076,716
Ensembl chr X:157,056,355...157,076,716
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G
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Renbp
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renin binding protein
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:156,812,785...156,821,860
Ensembl chr X:156,812,411...156,821,838
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G
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Tex28
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testis expressed 28
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,076,824...157,110,988
Ensembl chr X:157,076,609...157,093,768
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G
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Tktl1
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transketolase-like 1
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ISO
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ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
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ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:157,105,455...157,138,510
Ensembl chr X:157,105,495...157,138,503
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G
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Eif4a3
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eukaryotic translation initiation factor 4A3
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome
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OMIM CTD ClinVar |
PMID:24360810 |
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NCBI chr10:105,047,567...105,057,561
Ensembl chr10:105,047,568...105,058,207
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G
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Setbp1
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SET binding protein 1
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ISO
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ClinVar Annotator: match by term: Schinzel-Giedion syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 PMID:23222956 PMID:23400866 PMID:23832012 PMID:23889083 PMID:24033266 PMID:25028416 PMID:25082129 PMID:25217958 PMID:25363760 PMID:25533962 PMID:25663181 PMID:25741868 PMID:25852444 PMID:26350204 PMID:26467025 PMID:27611742 PMID:27824329 PMID:28346496 PMID:28492532 PMID:30942411 PMID:31680123 PMID:32005694 PMID:32445275 PMID:32460883 PMID:33391157 PMID:33907317 PMID:34490615 PMID:34782754 PMID:35982160 PMID:36147799 More...
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NCBI chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455
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G
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Dlx5
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distal-less homeobox 5
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ISO
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ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:22121204 PMID:25741868 PMID:28492532 |
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NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845
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G
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Fgf16
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fibroblast growth factor 16
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 8
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OMIM CTD ClinVar |
PMID:23709756 PMID:24878828 |
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NCBI chr X:74,882,863...74,893,598
Ensembl chr X:74,882,995...74,944,246
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G
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Fbln1
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fibulin 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
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OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965
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G
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Nog
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noggin
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ISO
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ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
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OMIM ClinVar CTD RGD |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
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RGD:12801450 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Specc1l
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sperm antigen with calponin homology and coiled-coil domains 1-like
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ISO
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ClinVar Annotator: match by term: Teebi hypertelorism syndrome
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ClinVar |
PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 PMID:28492532 PMID:30472488 PMID:31953237 More...
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NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079
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G
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Mid1
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midline 1
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ISO
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ClinVar Annotator: match by term: Opitz-Frias syndrome
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ClinVar |
PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
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NCBI chr X:27,678,248...28,053,049
Ensembl chr X:27,681,867...27,906,105
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G
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Specc1l
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sperm antigen with calponin homology and coiled-coil domains 1-like
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ISO ISS
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ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 OMIM:145420 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 PMID:31953237 PMID:32954677 PMID:34302166 PMID:36474027 PMID:39825153 More...
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NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079
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G
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Cdh11
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cadherin 11
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ISO
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ClinVar Annotator: match by term: CDH11-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2
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OMIM ClinVar |
PMID:25741868 PMID:33811546 |
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NCBI chr19:2,152,961...2,312,140
Ensembl chr19:2,154,840...2,312,140
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G
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Flna
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filamin A
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ISO
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ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome
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OMIM ClinVar |
PMID:9071288 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 PMID:15523633 PMID:15864382 PMID:15917206 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:17152064 PMID:17576681 PMID:18414213 PMID:20301567 PMID:20598277 PMID:22522697 PMID:25614868 PMID:25741868 PMID:26059211 PMID:26061098 PMID:26467025 PMID:28492532 PMID:30561107 PMID:30712057 PMID:30986657 PMID:31919883 PMID:37175682 More...
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NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Aard
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alanine and arginine rich domain containing protein
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,254,322...85,259,163
Ensembl chr 7:85,253,992...85,259,163
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G
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Ccn3
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cellular communication network factor 3
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:87,982,216...87,994,581
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G
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Colec10
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collectin subfamily member 10
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:87,634,654...87,699,534
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G
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Eif3h
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eukaryotic translation initiation factor 3, subunit H
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:84,980,891...85,071,546
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G
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Enpp2
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ectonucleotide pyrophosphatase/phosphodiesterase 2
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:88,092,140...88,214,957
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G
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Ext1
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exostosin glycosyltransferase 1
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567
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G
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Mal2
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mal, T-cell differentiation protein 2
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:87,790,239...87,823,219
Ensembl chr 7:87,790,239...87,850,403
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G
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Med30
|
mediator complex subunit 30
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,894,638...85,916,373
Ensembl chr 7:85,894,605...85,917,973
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G
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Rad21
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RAD21 cohesin complex component
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:85,177,716...85,204,657
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G
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Samd12
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sterile alpha motif domain containing 12
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:86,658,072...87,207,686
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G
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Slc30a8
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solute carrier family 30 member 8
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:85,481,864...85,517,177
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G
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Taf2
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TATA-box binding protein associated factor 2
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:88,312,374...88,369,399
Ensembl chr 7:88,312,374...88,369,377
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G
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Tnfrsf11b
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TNF receptor superfamily member 11B
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075
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G
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Trps1
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transcriptional repressor GATA binding 1
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III CTD Direct Evidence: marker/mechanism
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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 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786
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G
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Utp23
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UTP23, small subunit processome component
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ISO
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ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
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ClinVar |
PMID:11112658 PMID:25792522 PMID:28492532 |
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NCBI chr 7:85,074,713...85,084,766
Ensembl chr 7:85,074,711...85,085,603
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G
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Lmbr1
|
limb development membrane protein 1
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ISO
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ClinVar Annotator: match by term: Triphalangeal thumb
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ClinVar |
PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238
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G
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Dchs1
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dachsous cadherin-related 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24056717 |
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NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639
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G
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Fat4
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FAT atypical cadherin 4
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van Maldergem syndrome
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CTD ClinVar |
PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 |
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NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716
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G
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Dchs1
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dachsous cadherin-related 1
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ISO
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ClinVar Annotator: match by term: Van Maldergem syndrome 1
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OMIM ClinVar |
PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 PMID:29046692 PMID:32461654 More...
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NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639
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G
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Fat4
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FAT atypical cadherin 4
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ISO
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ClinVar Annotator: match by term: Van Maldergem syndrome 1
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ClinVar |
PMID:28492532 |
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NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716
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G
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Fat4
|
FAT atypical cadherin 4
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ISO
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ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2
|
OMIM ClinVar |
PMID:2624276 PMID:9536098 PMID:17576681 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25539626 PMID:25741868 PMID:26325558 PMID:26893459 PMID:28492532 PMID:28878612 PMID:30143558 PMID:31384091 PMID:37264205 More...
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NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716
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G
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Gjb2
|
gap junction protein, beta 2
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ISO
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ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.D66H(human)
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OMIM ClinVar CTD RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9326398 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12212857 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15841999 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16575343 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17255958 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18167282 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18649181 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:19986602 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25560255 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25692760 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26046157 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26186295 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27067584 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27308859 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29086887 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29754767 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32090102 PMID:32120898 PMID:32258544 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34161886 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34599368 PMID:34652575 PMID:35016843 PMID:35212567 PMID:35336849 PMID:35396755 PMID:35864128 PMID:35939872 PMID:36048236 PMID:36147510 PMID:36190904 PMID:36474027 PMID:36579563 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38069086 PMID:38730444 PMID:38831582 PMID:40377830 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:12837696 PMID:10369869 More...
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RGD:11568635, RGD:7364824 |
NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877
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G
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Cntnap2
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contactin associated protein 2
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ISO
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ClinVar Annotator: match by term: Weaver syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:75,109,858...77,366,258
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G
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Cul1
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cullin 1
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ISO
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ClinVar Annotator: match by term: Weaver syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 4:77,551,781...77,634,210
Ensembl chr 4:77,551,787...77,621,760
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G
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Ezh2
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enhancer of zeste 2 polycomb repressive complex 2 subunit
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ISO ISS
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ClinVar Annotator: match by term: Weaver syndrome OMIM:277590 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23239504 PMID:24214728 PMID:24728327 PMID:25741868 PMID:25954003 PMID:26380986 PMID:26694085 PMID:27618451 PMID:28490743 PMID:28492532 PMID:29244146 PMID:29620724 PMID:29802153 PMID:30613354 PMID:31785789 PMID:32243864 More...
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NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183
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G
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Nsd1
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nuclear receptor binding SET domain protein 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Weaver syndrome
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CTD ClinVar |
PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250
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G
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Suz12
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SUZ12 polycomb repressive complex 2 subunit
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ISO
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ClinVar Annotator: match by term: Weaver syndrome
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ClinVar |
PMID:25741868 PMID:30019515 |
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NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846
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G
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Fgd1
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FYVE, RhoGEF and PH domain containing 1
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ISO
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ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition DNA:deletion:cds:c.2189delA (human) DNA:nonsense mutation:cds:p.W447X (human) DNA:mutations:multiple (human) DNA:insertion:cds:c.2121_2122insG (human)
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OMIM ClinVar RGD |
PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:26467025 PMID:28492532 PMID:29276006 PMID:39033378 PMID:39900177 PMID:16353258 PMID:23211637 PMID:20082460 PMID:7954831 More...
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RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 |
NCBI chr X:23,466,791...23,509,773
Ensembl chr X:23,467,530...23,509,979
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G
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Tsr2
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TSR2, ribosome maturation factor
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ISO
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ClinVar Annotator: match by term: FGD1-Related Disorders
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:23,507,141...23,515,711
Ensembl chr X:23,507,142...23,515,659
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G
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Atp6v1b2
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ATPase H+ transporting V1 subunit B2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:25915598 |
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NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839
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G
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Kcnh1
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potassium voltage-gated channel subfamily H member 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:25915598 |
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NCBI chr13:106,253,101...106,555,712
Ensembl chr13:106,253,213...106,555,710
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G
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Atp6v1b2
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ATPase H+ transporting V1 subunit B2
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ISO
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ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1
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ClinVar |
PMID:18541964 PMID:23994350 PMID:25915598 |
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NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839
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G
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Kcnh1
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potassium voltage-gated channel subfamily H member 1
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ISO
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ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1
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OMIM ClinVar |
PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:27267311 PMID:28492532 PMID:31957018 PMID:32581362 PMID:32860008 PMID:33594261 PMID:33619735 PMID:38764027 More...
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NCBI chr13:106,253,101...106,555,712
Ensembl chr13:106,253,213...106,555,710
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G
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Atp6v1b2
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ATPase H+ transporting V1 subunit B2
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ISO
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ClinVar Annotator: match by term: ATP6V1B2-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2
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OMIM ClinVar |
PMID:18541964 PMID:23994350 PMID:24913193 PMID:25741868 PMID:25915598 PMID:28396750 PMID:28492532 PMID:31581539 PMID:31655144 More...
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NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839
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G
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Galnt13
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polypeptide N-acetylgalactosaminyltransferase 13
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ISO
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ClinVar Annotator: match by term: Zimmermann-laband syndrome 3
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ClinVar |
PMID:25741868 |
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NCBI chr 3:59,312,628...59,969,633
Ensembl chr 3:59,383,516...59,965,379
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G
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Kcnn3
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potassium calcium-activated channel subfamily N member 3
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ISO
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ClinVar Annotator: match by term: Zimmermann-laband syndrome 3
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OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:31155282 |
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NCBI chr 2:177,227,276...177,378,849
Ensembl chr 2:177,234,327...177,379,693
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