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: acrocephalosyndactylia
Accession: DOID:12960
browse the term
Definition: A synostosis that results_in craniosynostosis and syndactyly. (DO)
Synonyms: exact_synonym: ACS1; Acrocephalosyndactylies, Type 1; Acrocephalosyndactyly (Apert); Acrocephalosyndactyly, Type 1; Acrocephaly, Skull Asymmetry, and Mild Syndactyly; Apert Crouzon Disease; Apert Syndrome; Craniofacial-Skeletal-Dermatologic Dysplasia; Dysostosis Craniofacialis with Hypertelorism; Kurczynski Casperson Syndrome; Noack Syndrome; Noack Syndromes; Syndactylic Oxycephalies; Syndactylic Oxycephaly; Type I Acrocephalosyndactylies; Type I Acrocephalosyndactyly; Type II Acrocephalosyndactylies; acrocephalosyndactylias
narrow_synonym: ACROCEPHALOSYNDACTYLY, TYPE II; ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES; ACS I APERT-CROUZON DISEASE; ACS II; VOGT cephalodactyly
primary_id: MESH:D000168
alt_id: MIM:101200
xref: EFO:0004123 ; ICD9CM:755.55 ; MONDO:0019796 ; NCI:C34348 ; NCI:C99099
For additional species annotation, visit the
Alliance of Genome Resources .
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Fgfr1
Fibroblast growth factor receptor 1
ISO
DNA:missense mutation: :p.P252R (human)
RGD
PMID:7874169 PMID:25251565
RGD:11567243 , RGD:11567271
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
severity treatment
ISO ISS
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | 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 OMIM:101200 ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly DNA:missense mutation:cds:p.P253R (human) DNA:missense mutation:cds:p.A172F (human) DNA:missense mutations:cds:p.S252W, p.P253R (human) CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
OMIM ClinVar MouseDO CTD RGD
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9521581 PMID:9536098 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10633130 PMID:10851026 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11390973 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12357470 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:17694057 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27683237 PMID:28166811 PMID:28492532 PMID:28611549 PMID:30919572 PMID:31145570 PMID:36474027 PMID:270283566 PMID:10735635 PMID:23532954 PMID:17694057 PMID:9677057 PMID:7668257 More...
RGD:12801488 , RGD:12801475 , RGD:12801474 , RGD:12801413 , RGD:8547743
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Twist1
twist family bHLH transcription factor 1
ISO
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 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:23354436 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 PMID:8988166 More...
RGD:1624353
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Bag2
BAG cochaperone 2
ISO
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
ClinVar
PMID:25741868
NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
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Megf8
multiple EGF-like-domains 8
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:201000 | OMIM:614976 ClinVar Annotator: match by term: Carpenter syndrome
CTD MouseDO ClinVar
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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Rab23
RAB23, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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Bag2
BAG cochaperone 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar
PMID:25741868
NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
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Rab23
RAB23, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition
OMIM ClinVar
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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Actmap
actin maturation protease
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
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Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Arhgef1
Rho guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Axl
Axl receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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B3gnt8
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
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B9d2
B9 domain containing 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Bckdha
branched chain keto acid dehydrogenase E1 subunit alpha
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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Blvrb
biliverdin reductase B
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
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C1h19orf47
similar to human chromosome 19 open reading frame 47
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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Ccdc97
coiled-coil domain containing 97
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Ceacam15
CEA cell adhesion molecule 15
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
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Ceacam4
CEA cell adhesion molecule 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
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Ceacam6
CEA cell adhesion molecule 6
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Cnfn
cornifelin
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Cyp2a1
cytochrome P450, family 2, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
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Cyp2a3
cytochrome P450, family 2, subfamily a, polypeptide 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2f4
cytochrome P450, family 2, subfamily f, polypeptide 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
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Cyp2s1
cytochrome P450, family 2, subfamily s, polypeptide 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
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Dedd2
death effector domain containing 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
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Dll3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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Dmac2
distal membrane arm assembly component 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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Dmrtc2
DMRT-like family C2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
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Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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Egln2
egl-9 family hypoxia-inducible factor 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
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Eid2
EP300 interacting inhibitor of differentiation 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,538,274...83,539,599
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Eid2b
EP300 interacting inhibitor of differentiation 2B
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Erich4
glutamate-rich 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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Exosc5
exosome component 5
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Fbl
fibrillarin
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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Fcgbp
Fc gamma binding protein
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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Grik5
glutamate ionotropic receptor kainate type subunit 5
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
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Gsk3a
glycogen synthase kinase 3 alpha
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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Hipk4
homeodomain interacting protein kinase 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
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Hnrnpul1
heterogeneous nuclear ribonucleoprotein U-like 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Lgals5
galectin 5
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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Ltbp4
latent transforming growth factor beta binding protein 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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Lypd4
Ly6/Plaur domain containing 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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Map3k10
mitogen activated protein kinase kinase kinase 10
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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Megf8
multiple EGF-like-domains 8
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 More...
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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Mia
MIA SH3 domain containing
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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Numbl
NUMB-like, endocytic adaptor protein
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
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Pafah1b3
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
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Pld3
phospholipase D family, member 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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Pou2f2
POU class 2 homeobox 2
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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Prr19
proline rich 19
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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Prx
periaxin
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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Psmc4
proteasome 26S subunit, ATPase 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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Rab4b
RAB4B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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Rabac1
Rab acceptor 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
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Rps16
ribosomal protein S16
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Selenov
selenoprotein V
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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Sertad1
SERTA domain containing 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
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Sertad3
SERTA domain containing 3
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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Shkbp1
Sh3kbp1 binding protein 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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Snrpa
small nuclear ribonucleoprotein polypeptide A
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
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Sptbn4
spectrin, beta, non-erythrocytic 4
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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Supt5h
SPT5 homolog, DSIF elongation factor subunit
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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Tgfb1
transforming growth factor, beta 1
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timm50
translocase of inner mitochondrial membrane 50
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
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Tmem145
transmembrane protein 145
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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Tmem91
transmembrane protein 91
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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Ttc9b
tetratricopeptide repeat domain 9B
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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Zfp11
zinc finger protein 11
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
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Zfp526
zinc finger protein 526
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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Zfp574
zinc finger protein 574
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
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Znf780b
zinc finger protein 780B
ISO
ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
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Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Gli3
GLI family zinc finger 3
ISO ISS
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape OMIM:175700 DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16199547 PMID:16740916 PMID:17576681 PMID:18000979 PMID:18154020 PMID:18241058 PMID:20583172 PMID:20672375 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28127823 PMID:28224613 PMID:28492532 PMID:29236091 PMID:30235038 PMID:30773290 PMID:30993914 PMID:31399769 PMID:32591344 PMID:33304378 PMID:34482537 PMID:34906502 PMID:15739154 PMID:10441342 PMID:24736735 PMID:22903559 More...
RGD:12738222 , RGD:12738208 , RGD:12738205 , RGD:12738141
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Inhba
inhibin subunit beta A
ISO
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
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Rala
RAS like proto-oncogene A
ISO
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
NCBI chr17:47,092,163...47,145,192
Ensembl chr17:47,092,207...47,144,063
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Sugct
succinylCoA:glutarate-CoA transferase
ISO
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
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Fgfr1
Fibroblast growth factor receptor 1
ISO ISS
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 OMIM:101600 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:16199547 PMID:16757108 PMID:16764984 PMID:16957473 PMID:17154279 PMID:18034870 PMID:18160472 PMID:18985070 PMID:20536592 PMID:20696889 PMID:23329143 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:26942290 PMID:28492532 PMID:28754744 PMID:31748124 PMID:31837199 PMID:33983622 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
ISO ISS
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM:101600 CTD Direct Evidence: marker/mechanism DNA:mutations:CDS:multiple (human) DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
OMIM ClinVar MouseDO CTD RGD
PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9150725 PMID:9169049 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9531645 PMID:9536098 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11556600 PMID:11781872 PMID:11807866 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12400058 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:17576681 PMID:17803937 PMID:18541976 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:31145570 PMID:31754721 PMID:36474027 PMID:33074973 PMID:7795583 More...
RGD:155782906 , RGD:155663661
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Twist1
twist family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:19952666 PMID:24127277 PMID:25741868 PMID:28492532 More...
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome
OMIM ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9585583 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:36474027 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
ClinVar
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Twist1
twist family bHLH transcription factor 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM:101400 | OMIM:180750
CTD ClinVar MouseDO OMIM
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:9934984 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11854168 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15099347 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17651129 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:22995991 PMID:23527594 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 More...
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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