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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 PMID:26656175 PMID:26871653 PMID:28492532 More...
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NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Joint laxity |
ClinVar |
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20842734 |
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:25741868 |
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NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:25741868 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Comp |
cartilage oligomeric matrix protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9887340 |
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NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:20301510 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27274304 PMID:27611364 PMID:27724990 PMID:28492532 PMID:28855619 PMID:29357934 PMID:29875124 PMID:30675029 PMID:30739908 PMID:31098894 PMID:31211626 PMID:31751304 PMID:31950671 PMID:32679894 PMID:34498425 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
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NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Joint laxity |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32333447 |
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NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Joint laxity |
ClinVar |
PMID:25741868 PMID:26392352 PMID:28492532 |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17895320 PMID:17963006 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28873162 PMID:29656518 PMID:30660595 PMID:31510104 PMID:34629742 PMID:34881033 More...
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Selenon |
selenoprotein N |
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ISO |
ClinVar Annotator: match by term: Joint laxity |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Joint hypermobility |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity |
CTD ClinVar |
PMID:18452888 PMID:25741868 |
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NCBI chr19:50,282,337...50,324,010
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Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
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ISO |
DNA:missense mutation:CDS:p.D203A (human) |
RGD |
PMID:22943132 |
RGD:42722010 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Emilin1 |
elastin microfibril interfacer 1 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:28492532 PMID:36351433 |
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NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISS |
OMIM:208050 |
MouseDO |
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NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25373504 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26376865 PMID:27153185 PMID:28152038 PMID:28492532 PMID:28726533 PMID:28829359 PMID:28855619 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:30425910 PMID:32368696 PMID:33144682 PMID:33461977 PMID:34498425 PMID:34668355 PMID:34847858 PMID:35918752 More...
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 |
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NCBI chr19:50,282,337...50,324,010
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Zfp469 |
zinc finger protein 469 |
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ISO ISS |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition OMIM:229200 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28518168 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32461654 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,337...50,324,010
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 |
OMIM ClinVar |
PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:31829210 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Bpnt2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
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ISO ISS |
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type OMIM:614078 |
OMIM ClinVar MouseDO |
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570
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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Cant1 |
calcium activated nucleotidase 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION OMIM:251450 | OMIM:615777 |
CTD ClinVar MouseDO |
PMID:19853239 PMID:25741868 PMID:28492532 |
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION |
CTD ClinVar |
PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 |
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Cant1 |
calcium activated nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31587486 PMID:31988067 PMID:32907608 PMID:34270679 More...
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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G |
Cep20 |
centrosomal protein 20 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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G |
Nomo1 |
Nodal modulator 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr 1:96,505,460...96,556,280
Ensembl chr 1:96,505,484...96,556,279
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28085539 PMID:28229453 PMID:28462984 PMID:28492532 PMID:30554721 PMID:31785789 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
OMIM ClinVar |
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 PMID:30554721 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Gzf1 |
GDNF-inducible zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia |
OMIM ClinVar |
PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 |
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NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28191890 PMID:28492532 PMID:28758091 PMID:30353918 PMID:30569622 PMID:32424177 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Ube3b |
ubiquitin protein ligase E3B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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G |
Csgalnact1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age |
OMIM ClinVar |
PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 |
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NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity |
ClinVar |
PMID:23664117 PMID:25741868 PMID:28492532 |
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations |
ClinVar |
PMID:35325049 |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Slc35b2 |
solute carrier family 35 member B2 |
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ISO |
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations |
ClinVar |
PMID:35325049 |
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NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
OMIM ClinVar |
PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29443383 PMID:29620724 PMID:32761602 PMID:33631843 PMID:34529350 PMID:35726512 More...
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
ClinVar |
PMID:28492532 |
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
ClinVar |
PMID:28492532 |
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Kif22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations |
OMIM ClinVar |
PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 PMID:25741868 PMID:28492532 PMID:32860008 More...
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NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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Exoc6b |
exocyst complex component 6B |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 |
OMIM ClinVar |
PMID:25741868 PMID:26669664 PMID:30284759 |
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NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180
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Dchs1 |
dachsous cadherin-related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van Maldergem syndrome |
CTD ClinVar |
PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 |
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Dchs1 |
dachsous cadherin-related 1 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 1 |
OMIM ClinVar |
PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 PMID:32461654 More...
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 |
OMIM ClinVar |
PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:26325558 PMID:28492532 PMID:28878612 PMID:30143558 PMID:31384091 More...
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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