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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:craniosynostosis
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Accession:DOID:2340 term browser browse the term
Definition:A synostosis that results_in premature fusion located_in skull. (DO)
Synonyms:exact_synonym: Acrocephaly;   Brachycephaly;   CRANIOSYNOSTOSIS 1;   CRS;   CRS1;   Craniostenosis;   Craniosynostose;   Craniosynostosis Plagiocephaly;   Craniosynostosis, nonsyndromic unicoronal;   Lambdoid Synostosis;   Lambdoidal Craniosynostosis;   Metopic Synostoses;   Metopic Synostosis;   Oxycephaly;   Sagittal Synostoses;   Sagittal Synostosis;   Scaphocephaly;   Synostotic Anterior Plagiocephaly;   Synostotic Plagiocephaly;   Synostotic Posterior Plagiocephaly;   craniostenoses;   craniosynostoses;   craniosynostoses type 1;   craniosynostosis type 1;   lambdoid synostoses;   lambdoidal craniosynostoses;   premature closure of cranial sutures;   trigonocephaly;   unilateral coronal synostoses;   unilateral coronal synostosis
 narrow_synonym: CRANIOSYNOSTOSIS, NONSPECIFIC;   FGFR2 RELATED CRANIOSYNOSTOSIS;   SYNDROMIC CRANIOSYNOSTOSIS
 primary_id: MESH:D003398
 alt_id: OMIA:001551;   OMIM:123100
 xref: EFO:0009141;   GARD:6209;   ICD10CM:Q75.0;   NCI:C84655;   OMIM:PS123100;   ORDO:1531
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADSB acyl-CoA dehydrogenase short/branched chain IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACTMAP actin maturation protease IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,740,861...40,750,477
Ensembl chr19:40,740,856...40,751,553
JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ALX4 ALX homeobox 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150
JBrowse link
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G ATE1 arginyltransferase 1 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:121,740,424...121,928,463
Ensembl chr10:121,709,393...121,928,801
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G AXIN2 axin 2 ISS
IAGP
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
ClinVar Annotator: match by term: Craniosynostosis
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G AXL AXL receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,425,359...41,428,730
Ensembl chr19:41,425,359...41,428,730
JBrowse link
G B9D2 B9 domain containing 2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 susceptibility IAGP
EXP
DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23160099 PMID:23160099 RGD:9684995 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BLVRB biliverdin reductase B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764
JBrowse link
G BMP2 bone morphogenetic protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BTBD16 BTB domain containing 16 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,271,296...122,338,159
Ensembl chr10:122,271,296...122,338,159
JBrowse link
G C10orf120 chromosome 10 open reading frame 120 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,697,709...122,699,846
Ensembl chr10:122,697,709...122,699,846
JBrowse link
G C10orf88 chromosome 10 open reading frame 88 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,930,901...122,954,227
Ensembl chr10:122,930,901...122,954,311
JBrowse link
G C19orf47 chromosome 19 open reading frame 47 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527
JBrowse link
G CCDC97 coiled-coil domain containing 97 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,310,172...41,324,873
Ensembl chr19:41,310,172...41,324,873
JBrowse link
G CCNP cyclin P IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697
JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CEACAM21 CEA cell adhesion molecule 21 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,549,518...41,586,844
Ensembl chr19:41,549,518...41,586,844
JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554
JBrowse link
G CEACAM4 CEA cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,613,436...41,627,074
Ensembl chr19:41,619,015...41,627,074
JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,708,626...41,730,433
Ensembl chr19:41,708,585...41,730,433
JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
JBrowse link
G CEACAM7 CEA cell adhesion molecule 7 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,673,303...41,688,270
Ensembl chr19:41,673,303...41,706,976
JBrowse link
G CIC capicua transcriptional repressor IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
JBrowse link
G CLASP1 cytoplasmic linker associated protein 1 IAGP ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr 2:121,337,776...121,649,462
Ensembl chr 2:121,337,776...121,649,476
JBrowse link
G CLC Charcot-Leyden crystal galectin IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029
JBrowse link
G CNFN cornifelin IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:42,387,019...42,390,297
Ensembl chr19:42,387,019...42,390,297
JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
JBrowse link
G CUZD1 CUB and zona pellucida like domains 1 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,832,158...122,845,857
Ensembl chr10:122,832,158...122,846,175
JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A member 13 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,088,451...41,096,195
Ensembl chr19:41,088,451...41,096,195
JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
JBrowse link
G CYP2A7 cytochrome P450 family 2 subfamily A member 7 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,875,439...40,882,231
Ensembl chr19:40,875,439...40,882,752
JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,114,432...41,128,381
Ensembl chr19:41,114,432...41,128,381
JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,193,219...41,207,539
Ensembl chr19:41,193,210...41,207,539
JBrowse link
G DEDD2 death effector domain containing 2 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 NCBI chr19:42,198,598...42,220,134
Ensembl chr19:42,198,598...42,220,140
JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G DMAC2 distal membrane arm assembly component 2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,431,318...41,439,912
Ensembl chr19:41,431,318...41,440,717
JBrowse link
G DMBT1 deleted in malignant brain tumors 1 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,560,754...122,643,736
Ensembl chr10:122,560,665...122,643,736
JBrowse link
G DMRTC2 DMRT like family C2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,844,916...41,852,333
Ensembl chr19:41,844,743...41,852,333
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
JBrowse link
G EFNB1 ephrin B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160
JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,799,191...40,808,434
Ensembl chr19:40,798,996...40,808,434
JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161
JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852
JBrowse link
G ERF ETS2 repressor factor IAGP
EXP
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Lambdoidal craniosynostosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:26097063 More... NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
G ERICH4 glutamate rich 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,443,156...41,444,765
Ensembl chr19:41,443,156...41,444,765
JBrowse link
G EXOSC5 exosome component 5 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FAM24A family with sequence similarity 24 member A IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,910,610...122,913,111
Ensembl chr10:122,910,610...122,913,111
JBrowse link
G FAM24B family with sequence similarity 24 member B IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,849,078...122,879,641
Ensembl chr10:122,849,078...122,879,641
JBrowse link
G FBL fibrillarin IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FCGBP Fc gamma binding protein IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO
IAGP
EXP
DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis, nonspecific
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15605412 PMID:16764984 PMID:23657145 PMID:25064402 PMID:25741868 More... RGD:11567263 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP
EXP
ISO
IMP
DNA:substitutions:multiple
ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Premature closure of cranial sutures
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniostenosis
human cells in a rat model
DNA:missense mutations:cds:p.Y105C, p.G384R (human)
ClinVar
CTD
RGD
PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP DNA:missense mutation:cds:p.P250R(human)
ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis, nonspecific
ClinVar
RGD
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... RGD:11568028 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trigonocephaly
CTD
ClinVar
NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181
JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,262,557...41,307,787
Ensembl chr19:41,262,496...41,307,787
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G IFT122 intraflagellar transport 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IKZF5 IKAROS family zinc finger 5 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,990,806...123,008,795
Ensembl chr10:122,990,807...123,008,812
JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,717,112...40,740,860
Ensembl chr19:40,717,112...40,740,860
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G LEUTX leucine twenty homeobox IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291
JBrowse link
G LGALS13 galectin 13 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474
JBrowse link
G LGALS14 galectin 14 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444
JBrowse link
G LGALS16 galectin 16 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647
JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
JBrowse link
G LNROP long non-coding regulator of POU2F2 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,132,629...42,137,099
Ensembl chr19:42,132,555...42,137,386
JBrowse link
G LOC102723716 uncharacterized LOC102723716 IAGP ClinVar Annotator: match by term: Craniosynostosis ClinVar NCBI chr 8:38,400,088...38,402,531 JBrowse link
G LOC111501767 ZFP161 motif-containing MPRA enhancer 284/285 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,279,722...42,280,061 JBrowse link
G LOC111811970 Sharpr-MPRA regulatory regions 411/7488 and 4104 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,034,757...42,035,091 JBrowse link
G LOC124416922 Sharpr-MPRA regulatory region 287 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:28492532 NCBI chr10:121,580,215...121,581,014 JBrowse link
G LOC125371523 Sharpr-MPRA regulatory region 1615 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,139,737...42,140,431 JBrowse link
G LOC125371524 Sharpr-MPRA regulatory region 11582 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,247,157...42,247,451 JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC129998021 ATAC-STARR-seq lymphoblastoid active region 25682 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 More...
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G LOC130064540 ATAC-STARR-seq lymphoblastoid silent region 10679 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:41,958,529...41,958,598 JBrowse link
G LOC130064541 ATAC-STARR-seq lymphoblastoid silent region 10680 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:41,959,049...41,959,298 JBrowse link
G LOC130064542 ATAC-STARR-seq lymphoblastoid active region 14695 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:41,959,409...41,959,698 JBrowse link
G LOC130064543 ATAC-STARR-seq lymphoblastoid silent region 10681 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:41,993,964...41,994,403 JBrowse link
G LOC130064544 ATAC-STARR-seq lymphoblastoid silent region 10682 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:41,997,251...41,997,310 JBrowse link
G LOC130064545 ATAC-STARR-seq lymphoblastoid active region 14697 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,075,326...42,075,395 JBrowse link
G LOC130064546 ATAC-STARR-seq lymphoblastoid active region 14698 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,075,476...42,075,525 JBrowse link
G LOC130064547 ATAC-STARR-seq lymphoblastoid active region 14699 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,075,746...42,075,865 JBrowse link
G LOC130064548 ATAC-STARR-seq lymphoblastoid silent region 10683 IAGP ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar NCBI chr19:42,076,236...42,076,495 JBrowse link
G LOC130064549 ATAC-STARR-seq lymphoblastoid silent region 10684 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,076,506...42,076,585 JBrowse link
G LOC130064550 ATAC-STARR-seq lymphoblastoid active region 14700 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,114,311...42,114,470 JBrowse link
G LOC130064551 ATAC-STARR-seq lymphoblastoid silent region 10685 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,122,000...42,122,079 JBrowse link
G LOC130064552 ATAC-STARR-seq lymphoblastoid active region 14701 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,129,888...42,129,997 JBrowse link
G LOC130064553 ATAC-STARR-seq lymphoblastoid silent region 10686 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,133,128...42,133,387 JBrowse link
G LOC130064554 ATAC-STARR-seq lymphoblastoid active region 14702 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,133,668...42,133,717 JBrowse link
G LOC130064555 ATAC-STARR-seq lymphoblastoid silent region 10687 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,177,037...42,177,186 JBrowse link
G LOC130064556 ATAC-STARR-seq lymphoblastoid silent region 10688 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,177,287...42,177,366 JBrowse link
G LOC130064557 ATAC-STARR-seq lymphoblastoid active region 14704 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,199,600...42,199,849 JBrowse link
G LOC130064558 ATAC-STARR-seq lymphoblastoid active region 14705 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,201,767...42,201,976 JBrowse link
G LOC130064559 ATAC-STARR-seq lymphoblastoid active region 14706 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,202,097...42,202,176 JBrowse link
G LOC130064560 ATAC-STARR-seq lymphoblastoid silent region 10689 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,217,095...42,217,154 JBrowse link
G LOC130064561 ATAC-STARR-seq lymphoblastoid silent region 10690 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,217,165...42,217,264 JBrowse link
G LOC130064562 ATAC-STARR-seq lymphoblastoid silent region 10691 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,220,161...42,220,310 JBrowse link
G LOC130064563 ATAC-STARR-seq lymphoblastoid silent region 10692 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,242,144...42,242,423 JBrowse link
G LOC130064564 ATAC-STARR-seq lymphoblastoid silent region 10693 IAGP ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar NCBI chr19:42,242,454...42,242,663 JBrowse link
G LOC130064565 ATAC-STARR-seq lymphoblastoid silent region 10694 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,253,590...42,253,749 JBrowse link
G LOC130064566 ATAC-STARR-seq lymphoblastoid silent region 10695 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,253,800...42,253,849 JBrowse link
G LOC130064567 ATAC-STARR-seq lymphoblastoid silent region 10696 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,253,870...42,253,989 JBrowse link
G LOC130064568 ATAC-STARR-seq lymphoblastoid silent region 10697 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,254,080...42,254,149 JBrowse link
G LOC130064569 ATAC-STARR-seq lymphoblastoid active region 14710 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,268,242...42,268,751 JBrowse link
G LOC130064570 ATAC-STARR-seq lymphoblastoid active region 14711 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,270,911...42,270,960 JBrowse link
G LOC130064571 ATAC-STARR-seq lymphoblastoid silent region 10703 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,281,122...42,281,321 JBrowse link
G LOC130064572 ATAC-STARR-seq lymphoblastoid silent region 10705 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,290,928...42,290,977 JBrowse link
G LOC130064573 ATAC-STARR-seq lymphoblastoid active region 14712 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,295,749...42,295,818 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,835,075...41,844,871
Ensembl chr19:41,837,074...41,844,697
JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:23063620 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G MIA MIA SH3 domain containing IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,775,160...40,777,490
Ensembl chr19:40,771,648...40,777,490
JBrowse link
G MIR4323 microRNA 4323 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,133,445...42,133,513
Ensembl chr19:42,133,445...42,133,513
JBrowse link
G MSX2 msh homeobox 2 IAGP craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H RGD PMID:8968743 RGD:1600491 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Lambdoid synostosis ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NELL1 neural EGFL like 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14672347 PMID:12235118 RGD:633405 NCBI chr11:20,669,551...21,575,686
Ensembl chr11:20,669,551...21,575,686
JBrowse link
G NOG noggin treatment IDA RGD PMID:19627528 RGD:8547554 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:121,957,091...121,975,217
Ensembl chr10:121,957,091...121,975,217
JBrowse link
G NUMBL NUMB like endocytic adaptor protein IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,665,905...40,690,651
Ensembl chr19:40,665,905...40,690,972
JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:42,297,033...42,302,800
Ensembl chr19:42,297,033...42,303,546
JBrowse link
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472
JBrowse link
G PLEKHA1 pleckstrin homology domain containing A1 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,374,708...122,442,600
Ensembl chr10:122,374,696...122,432,354
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415
JBrowse link
G POU2F2 POU class 2 homeobox 2 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:42,086,110...42,197,936
Ensembl chr19:42,086,110...42,196,585
JBrowse link
G POU2F2-AS2 POU2F2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr19:42,152,536...42,157,521
Ensembl chr19:42,152,569...42,157,523
JBrowse link
G PRR19 proline rich 19 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:42,302,132...42,310,814
Ensembl chr19:42,302,098...42,310,814
JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764
JBrowse link
G PSTK phosphoseryl-tRNA kinase IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:122,980,401...122,990,390
Ensembl chr10:122,954,381...122,997,513
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAB4B RAB4B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,778,247...40,796,942
Ensembl chr19:40,778,216...40,796,942
JBrowse link
G RABAC1 Rab acceptor 1 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:41,956,683...41,959,321
Ensembl chr19:41,956,681...41,959,321
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RPS16 ribosomal protein S16 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949
JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G SELENOV selenoprotein V IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675
JBrowse link
G SERTAD1 SERTA domain containing 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,421,589...40,425,992
Ensembl chr19:40,421,589...40,425,992
JBrowse link
G SERTAD3 SERTA domain containing 3 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,440,844...40,444,335
Ensembl chr19:40,440,844...40,444,335
JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,576,873...40,591,397
Ensembl chr19:40,576,853...40,591,399
JBrowse link
G SMAD6 SMAD family member 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389
JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670
JBrowse link
G TACC2 transforming acidic coiled-coil containing protein 2 IAGP ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr10:121,989,163...122,254,542
Ensembl chr10:121,989,163...122,254,545
JBrowse link
G TCF12 transcription factor 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23354436 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
JBrowse link
G TMEM145 transmembrane protein 145 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:42,313,309...42,325,064
Ensembl chr19:42,313,309...42,325,064
JBrowse link
G TMEM91 transmembrane protein 91 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:41,363,947...41,384,083
Ensembl chr19:41,350,911...41,384,083
JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
G TTC9B tetratricopeptide repeat domain 9B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,216,058...40,218,384
Ensembl chr19:40,216,058...40,218,384
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP
EXP
ClinVar Annotator: match by term: Craniosynostosis 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G WDR35 WD repeat domain 35 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G ZIC1 Zic family member 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
JBrowse link
G ZNF526 zinc finger protein 526 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201
JBrowse link
G ZNF546 zinc finger protein 546 IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:39,997,060...40,021,038
Ensembl chr19:39,984,134...40,021,038
JBrowse link
G ZNF574 zinc finger protein 574 IAGP ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar PMID:28492532 NCBI chr19:42,068,477...42,081,552
Ensembl chr19:42,068,477...42,081,552
JBrowse link
G ZNF780A zinc finger protein 780A IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,069,152...40,090,943
Ensembl chr19:40,069,152...40,090,943
JBrowse link
G ZNF780B zinc finger protein 780B IAGP ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr19:40,028,260...40,056,231
Ensembl chr19:40,028,260...40,056,231
JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC007920.2 novel transcript, antisense to MASP1 IAGP ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 NCBI chr 3:187,291,272...187,297,933
Ensembl chr 3:187,291,272...187,297,933
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AHSG alpha 2-HS glycoprotein IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G COLEC11 collectin subfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G CRYGS crystallin gamma S IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,538,443...186,544,380
Ensembl chr 3:186,538,441...186,546,702
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
JBrowse link
G FETUB fetuin B IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,635,969...186,653,141
Ensembl chr 3:186,635,969...186,653,141
JBrowse link
G HRG histidine rich glycoprotein IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,666,014...186,678,234
Ensembl chr 3:186,660,216...186,678,234
JBrowse link
G KNG1 kininogen 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G LOC108281160 MED14-independent group 3 enhancer GRCh37_chr3:187003628-187004827 IAGP ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:28534045 NCBI chr 3:187,285,840...187,287,039 JBrowse link
G MASP1 MBL associated serine protease 1 IAGP
EXP
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
JBrowse link
G RFC4 replication factor C subunit 4 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,789,900...186,806,482
Ensembl chr 3:186,789,880...186,807,058
JBrowse link
G RPL39L ribosomal protein L39 like IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:187,120,948...187,139,496
Ensembl chr 3:187,120,948...187,180,908
JBrowse link
G RTP1 receptor transporter protein 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:187,197,486...187,201,462
Ensembl chr 3:187,197,486...187,201,462
JBrowse link
G SNORA63 small nucleolar RNA, H/ACA box 63 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,787,299...186,787,433
Ensembl chr 3:186,787,300...186,787,431
JBrowse link
G SNORA81 small nucleolar RNA, H/ACA box 81 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,786,676...186,786,852
Ensembl chr 3:186,786,675...186,786,852
JBrowse link
G ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,930,526...187,078,553
Ensembl chr 3:186,930,325...187,078,553
JBrowse link
G TBCCD1 TBCC domain containing 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,546,067...186,570,543
Ensembl chr 3:186,546,067...186,570,543
JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 severity
treatment
IAGP
ISS
EXP
ISO
DNA:mutations:cds:
ClinVar Annotator: match by term: Acrocephalosyndactyly type I
OMIM:101200
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Syndactylic oxycephaly
ClinVar Annotator: match by term: Apert syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:8547743, RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G LOC129998021 ATAC-STARR-seq lymphoblastoid active region 25682 IAGP ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 More...
G TWIST1 twist family bHLH transcription factor 1 IAGP
EXP
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... RGD:1624353 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806264 MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794 IAGP ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type ClinVar PMID:25741868 PMID:25913037 NCBI chr 2:86,069,472...86,070,671 JBrowse link
G POLR1A RNA polymerase I subunit A IAGP
EXP
ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type
ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868 PMID:25913037 PMID:28492532 PMID:34341987 PMID:37075751 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromelic frontonasal dysostosis
OMIM
CTD
ClinVar
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO RGD PMID:21705796 RGD:41412188 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP
EXP
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G LOC126860075 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 IAGP ClinVar Annotator: match by term: POR Deficiency ClinVar PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:18551037 More... NCBI chr 7:75,982,769...75,983,968 JBrowse link
G POR cytochrome p450 oxidoreductase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POR Deficiency
CTD
ClinVar
PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 More... NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
Antley-Bixler syndrome with disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G LOC126860075 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 IAGP ClinVar Annotator: match by term: POR Deficiency ClinVar PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:18551037 More... NCBI chr 7:75,982,769...75,983,968 JBrowse link
G POR cytochrome p450 oxidoreductase IAGP
EXP
ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 More... NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
Antley-Bixler syndrome without disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP
EXP
ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G POR cytochrome p450 oxidoreductase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive
OMIM
CTD
ClinVar
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP39 Rho GTPase activating protein 39 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 8:144,529,179...144,700,362
Ensembl chr 8:144,529,179...144,685,846
JBrowse link
G C8orf82 chromosome 8 open reading frame 82 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 8:144,525,733...144,529,111
Ensembl chr 8:144,525,733...144,529,132
JBrowse link
G GPT glutamic--pyruvic transaminase IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G LOC130001411 ATAC-STARR-seq lymphoblastoid silent region 19699 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:9536098 PMID:12734318 PMID:12952869 PMID:16199547 PMID:17576681 More... NCBI chr 8:144,517,438...144,518,187 JBrowse link
G LRRC14 leucine rich repeat containing 14 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 8:144,517,992...144,525,178
Ensembl chr 8:144,517,992...144,525,172
JBrowse link
G LRRC24 leucine rich repeat containing 24 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 8:144,522,388...144,527,033
Ensembl chr 8:144,522,388...144,527,033
JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr 8:144,509,070...144,511,213
Ensembl chr 8:144,509,070...144,511,213
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP
EXP
ClinVar Annotator: match by term: Baller-Gerold syndrome
ClinVar Annotator: match by term: Craniosynostosis with radial defects
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G ZNF251 zinc finger protein 251 IAGP ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 8:144,720,909...144,755,531
Ensembl chr 8:144,720,907...144,756,417
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 IAGP
EXP
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP
ISS
EXP
ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
OMIM:123790
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
Bohring Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP
EXP
ClinVar Annotator: match by term: C-like syndrome
ClinVar Annotator: match by term: Bohring-Opitz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 More... NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: C-like syndrome ClinVar PMID:25741868 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
JBrowse link
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS23 ribosomal protein S23 IAGP
EXP
ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868 PMID:28257692 NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD96 CD96 molecule IAGP
EXP
ClinVar Annotator: match by term: C syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG2 BAG cochaperone 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II
ClinVar NCBI chr 6:57,172,326...57,189,833
Ensembl chr 6:57,172,326...57,189,833
JBrowse link
G MEGF8 multiple EGF like domains 8 EXP
ISS
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:201000 | OMIM:614976
ClinVar Annotator: match by term: Carpenter syndrome
CTD
MouseDO
ClinVar
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP
EXP
ClinVar Annotator: match by term: Carpenter syndrome
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II
ClinVar Annotator: match by term: ACPS 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG2 BAG cochaperone 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 6:57,172,326...57,189,833
Ensembl chr 6:57,172,326...57,189,833
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar
OMIM
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,740,861...40,750,477
Ensembl chr19:40,740,856...40,751,553
JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G AXL AXL receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,425,359...41,428,730
Ensembl chr19:41,425,359...41,428,730
JBrowse link
G B9D2 B9 domain containing 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BLVRB biliverdin reductase B IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764
JBrowse link
G C19orf47 chromosome 19 open reading frame 47 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527
JBrowse link
G CCDC97 coiled-coil domain containing 97 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,310,172...41,324,873
Ensembl chr19:41,310,172...41,324,873
JBrowse link
G CCNP cyclin P IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697
JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CEACAM21 CEA cell adhesion molecule 21 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,549,518...41,586,844
Ensembl chr19:41,549,518...41,586,844
JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554
JBrowse link
G CEACAM4 CEA cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,613,436...41,627,074
Ensembl chr19:41,619,015...41,627,074
JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,708,626...41,730,433
Ensembl chr19:41,708,585...41,730,433
JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
JBrowse link
G CEACAM7 CEA cell adhesion molecule 7 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,673,303...41,688,270
Ensembl chr19:41,673,303...41,706,976
JBrowse link
G CIC capicua transcriptional repressor IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
JBrowse link
G CLC Charcot-Leyden crystal galectin IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029
JBrowse link
G CNFN cornifelin IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,387,019...42,390,297
Ensembl chr19:42,387,019...42,390,297
JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A member 13 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,088,451...41,096,195
Ensembl chr19:41,088,451...41,096,195
JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
JBrowse link
G CYP2A7 cytochrome P450 family 2 subfamily A member 7 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,875,439...40,882,231
Ensembl chr19:40,875,439...40,882,752
JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,114,432...41,128,381
Ensembl chr19:41,114,432...41,128,381
JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,193,219...41,207,539
Ensembl chr19:41,193,210...41,207,539
JBrowse link
G DEDD2 death effector domain containing 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,198,598...42,220,134
Ensembl chr19:42,198,598...42,220,140
JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G DMAC2 distal membrane arm assembly component 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,431,318...41,439,912
Ensembl chr19:41,431,318...41,440,717
JBrowse link
G DMRTC2 DMRT like family C2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,844,916...41,852,333
Ensembl chr19:41,844,743...41,852,333
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,799,191...40,808,434
Ensembl chr19:40,798,996...40,808,434
JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161
JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852
JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
G ERICH4 glutamate rich 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,443,156...41,444,765
Ensembl chr19:41,443,156...41,444,765
JBrowse link
G EXOSC5 exosome component 5 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362
JBrowse link
G FBL fibrillarin IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379
JBrowse link
G FCGBP Fc gamma binding protein IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626
JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625
JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181
JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,262,557...41,307,787
Ensembl chr19:41,262,496...41,307,787
JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,717,112...40,740,860
Ensembl chr19:40,717,112...40,740,860
JBrowse link
G LEUTX leucine twenty homeobox IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291
JBrowse link
G LGALS13 galectin 13 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474
JBrowse link
G LGALS14 galectin 14 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444
JBrowse link
G LGALS16 galectin 16 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647
JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
JBrowse link
G LOC130064579 ATAC-STARR-seq lymphoblastoid silent region 10711 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,326,231...42,326,300 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,835,075...41,844,871
Ensembl chr19:41,837,074...41,844,697
JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G MIA MIA SH3 domain containing IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,775,160...40,777,490
Ensembl chr19:40,771,648...40,777,490
JBrowse link
G MIR8077 microRNA 8077 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,351,131...42,351,205
Ensembl chr19:42,351,131...42,351,205
JBrowse link
G NUMBL NUMB like endocytic adaptor protein IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,665,905...40,690,651
Ensembl chr19:40,665,905...40,690,972
JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,297,033...42,302,800
Ensembl chr19:42,297,033...42,303,546
JBrowse link
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415
JBrowse link
G POU2F2 POU class 2 homeobox 2 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,086,110...42,197,936
Ensembl chr19:42,086,110...42,196,585
JBrowse link
G PRR19 proline rich 19 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,302,132...42,310,814
Ensembl chr19:42,302,098...42,310,814
JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764
JBrowse link
G RAB4B RAB4B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,778,247...40,796,942
Ensembl chr19:40,778,216...40,796,942
JBrowse link
G RABAC1 Rab acceptor 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,956,683...41,959,321
Ensembl chr19:41,956,681...41,959,321
JBrowse link
G RPS16 ribosomal protein S16 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949
JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G SELENOV selenoprotein V IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675
JBrowse link
G SERTAD1 SERTA domain containing 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,421,589...40,425,992
Ensembl chr19:40,421,589...40,425,992
JBrowse link
G SERTAD3 SERTA domain containing 3 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,440,844...40,444,335
Ensembl chr19:40,440,844...40,444,335
JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,576,873...40,591,397
Ensembl chr19:40,576,853...40,591,399
JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389
JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
JBrowse link
G TMEM145 transmembrane protein 145 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,313,309...42,325,064
Ensembl chr19:42,313,309...42,325,064
JBrowse link
G TMEM91 transmembrane protein 91 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:41,363,947...41,384,083
Ensembl chr19:41,350,911...41,384,083
JBrowse link
G TTC9B tetratricopeptide repeat domain 9B IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,216,058...40,218,384
Ensembl chr19:40,216,058...40,218,384
JBrowse link
G ZNF526 zinc finger protein 526 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201
JBrowse link
G ZNF546 zinc finger protein 546 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,997,060...40,021,038
Ensembl chr19:39,984,134...40,021,038
JBrowse link
G ZNF574 zinc finger protein 574 IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:42,068,477...42,081,552
Ensembl chr19:42,068,477...42,081,552
JBrowse link
G ZNF780A zinc finger protein 780A IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,069,152...40,090,943
Ensembl chr19:40,069,152...40,090,943
JBrowse link
G ZNF780B zinc finger protein 780B IAGP ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:40,028,260...40,056,231
Ensembl chr19:40,028,260...40,056,231
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 ClinVar
OMIM
PMID:25683117 PMID:25741868 PMID:28492532 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC24D SEC24 homolog D, COPII coat complex component IAGP ClinVar Annotator: match by term: Cole-carpenter syndrome 2
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar
OMIM
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 IAGP
EXP
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT43 intraflagellar transport 43 IAGP
EXP
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G LOC112939934 Sharpr-MPRA regulatory region 13789 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 4:39,182,198...39,182,523 JBrowse link
G LOC126806810 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,494,699...129,495,898 JBrowse link
G MATN3 matrilin 3 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia
ClinVar Annotator: match by term: Sensenbrenner syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G WDR19 WD repeat domain 19 IAGP
EXP
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP
EXP
ClinVar Annotator: match by term: Cranioectodermal dysplasia
ClinVar Annotator: match by term: Sensenbrenner syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WDR35-DT WDR35 divergent transcript IAGP ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:19,990,204...20,004,806
Ensembl chr 2:19,990,209...20,004,795
JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 1
ClinVar Annotator: match by term: LEVIN SYNDROME I
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G LOC126806810 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,494,699...129,495,898 JBrowse link
G LOC129937552 ATAC-STARR-seq lymphoblastoid active region 20514 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:20493458 PMID:23826986 PMID:24027799 PMID:28492532
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129933186 ATAC-STARR-seq lymphoblastoid active region 15370 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532
G MATN3 matrilin 3 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G SPAG17 sperm associated antigen 17 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228
JBrowse link
G WDR35 WD repeat domain 35 IAGP DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
ClinVar
OMIM
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT43 intraflagellar transport 43 IAGP ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR19 WD repeat domain 19 ISO
IAGP
DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
ClinVar
OMIM
RGD
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Craniofacial Microsomia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI3 forkhead box I3 IAGP ClinVar Annotator: match by term: Craniofacial microsomia 2 OMIM
ClinVar
PMID:36260083 PMID:37041148 NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693
JBrowse link
Craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX2 msh homeobox 2 IAGP
EXP
ClinVar Annotator: match by term: Craniosynostosis 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
Craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G TCF12 transcription factor 12 IAGP ClinVar Annotator: match by term: Craniosynostosis 3
ClinVar Annotator: match by term: Coronal craniosynostosis
ClinVar
OMIM
PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 More... NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
Craniosynostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Craniosynostosis 4 OMIM
ClinVar
PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 More... NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Craniosynostosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM
PMID:22829454 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
Craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZIC1 Zic family member 1 IAGP ClinVar Annotator: match by term: Craniosynostosis 6 ClinVar
OMIM
PMID:25741868 PMID:26340333 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
JBrowse link
craniosynostosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar PMID:27606499 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Craniosynostosis 7
ClinVar
OMIM
PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 More... NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL11RA interleukin 11 receptor subunit alpha IAGP
EXP
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL4 ADAMTS like 4 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:150,549,408...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:150,548,564...150,557,724
Ensembl chr 1:150,548,562...150,557,724
JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
JBrowse link
G AXIN2 axin 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G CLASP1 cytoplasmic linker associated protein 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr 2:121,337,776...121,649,462
Ensembl chr 2:121,337,776...121,649,476
JBrowse link
G CNPY2 canopy FGF signaling regulator 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr12:56,309,844...56,316,346
Ensembl chr12:56,309,842...56,316,119
JBrowse link
G CTNNA1 catenin alpha 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
JBrowse link
G DHRS3 dehydrogenase/reductase 3 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:12,567,910...12,618,210
Ensembl chr 1:12,567,910...12,618,210
JBrowse link
G DLEU2L deleted in lymphocytic leukemia 2 like IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,548,980...63,550,636
Ensembl chr 1:63,547,082...63,550,636
JBrowse link
G EFCAB7 EF-hand calcium binding domain 7 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,523,525...63,585,370
Ensembl chr 1:63,523,372...63,572,693
JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FOXD3 forkhead box D3 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,322,567...63,325,128
Ensembl chr 1:63,322,567...63,325,128
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GPC4 glypican 4 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
JBrowse link
G ITGB3BP integrin subunit beta 3 binding protein IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,440,770...63,529,187
Ensembl chr 1:63,440,770...63,593,721
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30245513 PMID:31292255 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G LOC102723716 uncharacterized LOC102723716 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 8:38,400,088...38,402,531 JBrowse link
G LOC121725027 Sharpr-MPRA regulatory region 14006 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,746,278...63,746,572 JBrowse link
G LOC129930667 ATAC-STARR-seq lymphoblastoid active region 1126 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868
G LOC129930668 ATAC-STARR-seq lymphoblastoid active region 1127 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868
G LOC129930669 ATAC-STARR-seq lymphoblastoid silent region 951 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868
G LOC129930670 ATAC-STARR-seq lymphoblastoid active region 1128 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868
G LOC130000232 ATAC-STARR-seq lymphoblastoid silent region 19128 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 8:38,467,918...38,468,037 JBrowse link
G LOC130000233 ATAC-STARR-seq lymphoblastoid silent region 19129 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 8:38,468,048...38,468,177 JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G MSX1 msh homeobox 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MSX2 msh homeobox 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G PGM1 phosphoglucomutase 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
JBrowse link
G TCF12 transcription factor 12 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30038786 PMID:31837199 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G ZNF462 zinc finger protein 462 IAGP ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
JBrowse link
Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL4 ADAMTS like 4 IAGP ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 1:150,549,408...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 More... NCBI chr 1:150,548,564...150,557,724
Ensembl chr 1:150,548,562...150,557,724
JBrowse link
Craniosynostosis, Anal Anomalies, and Porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU12 RNA, U12 small nuclear IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDAGS syndrome
OMIM
CTD
ClinVar
PMID:2400728 PMID:9733036 PMID:23602181 PMID:28217872 PMID:34085356 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
JBrowse link
Crouzon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP
ISS
EXP
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Craniofacial dysostosis
ClinVar Annotator: match by term: Crouzon disease
ClinVar Annotator: match by term: Crouzon syndrome
OMIM:123500
ClinVar Annotator: match by term: Craniofacial dysostosis type 1
DNA:missense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:12801466, RGD:155663659, RGD:12801472, RGD:12801470 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:25741868 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP
EXP
DNA:missense mutation:p.A391E(human)
ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568032 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSR2 TSR2 ribosome maturation factor IAGP
EXP
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS28 ribosomal protein S28 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
OMIM
CTD
ClinVar
PMID:24942156 PMID:25741868 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar
PMID:16642020 PMID:18695058 PMID:25256237 PMID:25741868 PMID:28492532 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP
EXP
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP
EXP
ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA
ClinVar
CTD
OMIM
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI3 forkhead box I3 IAGP
ISS
ClinVar Annotator: match by term: Goldenhar syndrome
ClinVar Annotator: match by term: Craniofacial microsomia
OMIM:164210
ClinVar
MouseDO
PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693
JBrowse link
G FRK fyn related Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Goldenhar syndrome ClinVar NCBI chr 6:115,931,149...116,100,725
Ensembl chr 6:115,931,149...116,060,891
JBrowse link
G LOC130006095 ATAC-STARR-seq lymphoblastoid active region 5029 IAGP ClinVar Annotator: match by term: Goldenhar syndrome ClinVar PMID:34344887 NCBI chr11:66,068,125...66,068,284 JBrowse link
G PAX1 paired box 1 IAGP ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofacial microsomia
OMIM
CTD
ClinVar
PMID:7811205 PMID:34344887 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G ZIC3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
G ZYG11B zyg-11 family member B, cell cycle regulator IAGP ClinVar Annotator: match by term: Goldenhar syndrome ClinVar PMID:25741868 PMID:32738032 NCBI chr 1:52,726,453...52,827,336
Ensembl chr 1:52,726,453...52,827,336
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP
ISS
EXP
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
OMIM:175700
ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738141, RGD:12738222, RGD:12738208, RGD:12738205 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G INHBA inhibin subunit beta A IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
JBrowse link
G LOC110120590 VISTA enhancer hs111 IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:1879832 NCBI chr 7:42,152,129...42,154,039 JBrowse link
G LOC110121030 VISTA enhancer hs1213 IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:1879832 NCBI chr 7:42,213,232...42,214,961 JBrowse link
G LOC110121152 VISTA enhancer hs1586 IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:1879832 PMID:28492532 NCBI chr 7:42,146,003...42,147,909 JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
JBrowse link
G RALA RAS like proto-oncogene A IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120
JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase IAGP ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763
JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP
EXP
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jackson-Weiss syndrome
OMIM
ClinVar
CTD
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP
EXP
DNA:missense mutation:cds:p.R344G (human)
ClinVar Annotator: match by term: Jackson-Weiss syndrome
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr15:67,066,039...67,066,198 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G SMAD3 SMAD family member 3 IAGP
EXP
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP
ISS
EXP
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996
JBrowse link
G TGFB3 transforming growth factor beta 3 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP
ISS
EXP
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP
ISS
EXP
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1301946 PMID:1569206 PMID:2005308 PMID:4750422 PMID:7611299 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:10612827 PMID:12938084 PMID:16222657 PMID:17253931 PMID:17657824 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:25741868
G LOC130008520 ATAC-STARR-seq lymphoblastoid silent region 4752 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:28492532 NCBI chr12:98,516,080...98,516,349 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar NCBI chr15:48,644,684...48,644,733 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP
EXP
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3
ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 2
ClinVar
CTD
OMIM
PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3
ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351
JBrowse link
G TMPO-AS1 TMPO antisense RNA 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:28492532 NCBI chr12:98,512,973...98,516,226
Ensembl chr12:98,512,973...98,516,422
JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:24033266 PMID:24711937 PMID:25741868 PMID:28492532 PMID:29543232 More... NCBI chr15:67,066,039...67,066,198 JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3
ClinVar
OMIM
PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 More... NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIDA axin interactor, dorsalization associated IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,668,013...222,712,491
Ensembl chr 1:222,668,013...222,713,210
JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,057,482...220,089,788
Ensembl chr 1:220,057,482...220,090,462
JBrowse link
G BROX BRO1 domain and CAAX motif containing IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,712,564...222,735,187
Ensembl chr 1:222,712,553...222,735,196
JBrowse link
G C1orf115 chromosome 1 open reading frame 115 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995