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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:polydactyly
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Accession:DOID:1148 term browser browse the term
Definition:A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. (DO)
Synonyms:exact_synonym: Polydactylia;   hyperdactylies;   hyperdactyly;   polydactylias;   polydactylies;   polydactylism;   polydactylisms
 related_synonym: supernumerary digit
 primary_id: MESH:D017689
 alt_id: OMIM:603596
 xref: GARD:4410;   ICD10CM:Q69;   ICD10CM:Q69.9;   ICD9CM:755.0;   NCI:C87110
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
JBrowse link
G ALX4 ALX homeobox 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,229,806...219,236,679
Ensembl chr 2:219,229,783...219,236,679
JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,507,093...219,538,772
Ensembl chr 2:219,514,170...219,538,772
JBrowse link
G ATG9A autophagy related 9A IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,219,380...219,229,636
Ensembl chr 2:219,219,380...219,229,717
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Polydactyly ClinVar PMID:20104584 PMID:25236687 PMID:25741868 PMID:26295337 PMID:26467025 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Polydactyly ClinVar PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CHPF chondroitin polymerizing factor IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,538,954...219,543,809
Ensembl chr 2:219,538,954...219,543,809
JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 ISS OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 MouseDO NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,171,897...219,178,156
Ensembl chr 2:219,171,897...219,178,106
JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898
JBrowse link
G DNPEP aspartyl aminopeptidase IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,372,043...219,400,007
Ensembl chr 2:219,372,043...219,400,022
JBrowse link
G ETV2 ETS variant transcription factor 2 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar PMID:33359164 NCBI chr19:35,641,745...35,644,871
Ensembl chr19:35,641,745...35,644,871
JBrowse link
G GLB1L galactosidase beta 1 like IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,236,598...219,245,444
Ensembl chr 2:219,236,598...219,245,478
JBrowse link
G GLI3 GLI family zinc finger 3 ISO
IAGP
EXP
DNA:insertion
ClinVar Annotator: match by term: Polydactyly
ClinVar Annotator: match by term: Hyperdactyly
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)
ClinVar
CTD
RGD
PMID:10441570 PMID:17688467 PMID:25741868 PMID:28492532 PMID:10051311 More... RGD:12738140, RGD:12801421, RGD:12738225, RGD:12738144 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
JBrowse link
G HOXD13 homeobox D13 ISO
IAGP
ClinVar Annotator: match by term: Polydactyly ClinVar
RGD
PMID:22233338 PMID:25741868 PMID:17266131 RGD:12738144 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT80 intraflagellar transport 80 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IFT88 intraflagellar transport 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12701101 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G INHA inhibin subunit alpha IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711
JBrowse link
G KIAA0586 KIAA0586 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15554946 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIF3A kinesin family member 3A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17698054 NCBI chr 5:132,688,812...132,737,546
Ensembl chr 5:132,692,628...132,737,638
JBrowse link
G LOC130064247 ATAC-STARR-seq lymphoblastoid silent region 10530 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar PMID:33359164 NCBI chr19:35,643,270...35,643,549 JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Polydactyly 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 MIPOL1 mirror-image polydactyly 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11954550 NCBI chr14:37,197,937...37,552,361
Ensembl chr14:37,197,894...37,579,125
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar PMID:18327255 PMID:20301500 PMID:24886560 PMID:25741868 PMID:26092869 More... NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NHEJ1 non-homologous end joining factor 1 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:17427195 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,289,623...219,309,401
Ensembl chr 2:219,289,623...219,309,648
JBrowse link
G RESP18 regulated endocrine specific protein 18 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,327,407...219,336,656
Ensembl chr 2:219,327,407...219,333,177
JBrowse link
G RETREG2 reticulophagy regulator family member 2 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,178,275...219,185,475
Ensembl chr 2:219,176,225...219,185,475
JBrowse link
G SHH sonic hedgehog signaling molecule ISO
IAGP
DNA:point mutation:enhancer:g.106954C>T (human) RGD PMID:14597572 PMID:22903933 PMID:10021368 RGD:12801421, RGD:12801449, RGD:12801429 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SLC23A3 solute carrier family 23 member 3 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,161,465...219,170,029
Ensembl chr 2:219,161,465...219,170,095
JBrowse link
G SLC4A3 solute carrier family 4 member 3 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980
JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar PMID:28492532 PMID:34953066 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
G STK11IP serine/threonine kinase 11 interacting protein IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,597,857...219,616,451
Ensembl chr 2:219,597,857...219,616,451
JBrowse link
G STK16 serine/threonine kinase 16 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,245,479...219,250,337
Ensembl chr 2:219,245,455...219,250,337
JBrowse link
G TMEM198 transmembrane protein 198 IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,543,663...219,550,595
Ensembl chr 2:219,543,663...219,550,595
JBrowse link
G TUBA4A tubulin alpha 4a IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO DNA:deletion:intron (rat) RGD PMID:19191224 RGD:2312786 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B IAGP ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr 2:219,206,782...219,209,648
Ensembl chr 2:219,195,237...219,209,651
JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328
JBrowse link
G ANGPTL5 angiopoietin like 5 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:101,890,674...101,916,522
Ensembl chr11:101,890,674...101,916,522
JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26092869 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CEP120 centrosomal protein 120 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CEP126 centrosomal protein 126 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:101,915,010...102,001,062
Ensembl chr11:101,915,010...102,001,062
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:27466187 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Short ribs ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:103,050,686...103,092,160
Ensembl chr11:103,050,686...103,092,194
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP
EXP
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
DNA:missense mutations:cds:multiple(human)
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 More... RGD:11072153 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 More... NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More... NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar PMID:27666822 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G IFT140 intraflagellar transport 140 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT43 intraflagellar transport 43 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
CTD
ClinVar
PMID:27466190 PMID:28492532 PMID:29068549 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IFT74 intraflagellar transport 74 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IFT81 intraflagellar transport 81 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793
JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G INTU inturned planar cell polarity protein IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar PMID:25741868 PMID:27158779 PMID:29068549 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G KIAA0586 KIAA0586 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:25741868 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Jeune's syndrome
ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LOC112939934 Sharpr-MPRA regulatory region 13789 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar NCBI chr 4:39,182,198...39,182,523 JBrowse link
G LOC126807151 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 4:127,686,687...127,687,886 JBrowse link
G LOC126860772 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:19610081 PMID:24183451 PMID:28492532 PMID:29068549 PMID:32576942 NCBI chr 9:128,634,693...128,635,892 JBrowse link
G LOC129932486 ATAC-STARR-seq lymphoblastoid silent region 1807 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822
G MATN3 matrilin 3 IAGP ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly 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 MMP1 matrix metallopeptidase 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP10 matrix metallopeptidase 10 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628
JBrowse link
G MMP12 matrix metallopeptidase 12 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP20 matrix metallopeptidase 20 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332
JBrowse link
G MMP27 matrix metallopeptidase 27 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,691,487...102,705,769
Ensembl chr11:102,691,487...102,705,769
JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP7 matrix metallopeptidase 7 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MMP8 matrix metallopeptidase 8 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
JBrowse link
G NEK1 NIMA related kinase 1 IAGP
EXP
DNA:missense, frameshift, nonsense mutations:cds,splice junction:
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)
ClinVar
CTD
RGD
PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:28492532 More... RGD:11072153, RGD:11069733 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:37619988 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SLTM SAFB like transcription modulator IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr15:58,879,050...58,933,679
Ensembl chr15:58,879,050...58,933,679
JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISS MouseDO NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:24183451 PMID:28492532 PMID:29068549 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G TMEM123 transmembrane protein 123 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,396,332...102,452,765
Ensembl chr11:102,396,332...102,470,384
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:28492532 PMID:29068549 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Jeune's syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD
ClinVar
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Jeune's syndrome
ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 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: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Jeune's syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 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: Short Rib Polydactyly 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
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1
ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1
ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G IFT140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LOC126806173 BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,453,190...27,454,389 JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
CTD
ClinVar
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 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 ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar 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
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT80 intraflagellar transport 80 IAGP
ISS
EXP
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
OMIM:611263
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 ClinVar PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP
ISS
EXP
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3
ClinVar Annotator: match by term: DYNC2H1-related condition
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
OMIM:613091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DYNC2H1-Related Disorder
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type
ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar PMID:29068549 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299
JBrowse link
G FAM98C family with sequence similarity 98 member C IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr19:38,403,093...38,409,088
Ensembl chr19:38,403,093...38,409,088
JBrowse link
G IFT80 intraflagellar transport 80 ISS OMIM:613091 MouseDO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G KIF24 kinesin family member 24 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268
JBrowse link
G LOC126860772 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chr 9:128,634,693...128,635,892 JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:21211617 PMID:25741868 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G TMEM256 transmembrane protein 256 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr17:7,402,975...7,404,097
Ensembl chr17:7,402,975...7,404,097
JBrowse link
G TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr17:7,389,727...7,404,131
Ensembl chr17:7,389,734...7,404,097
JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 ClinVar
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 ClinVar PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More... NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Beemer-Langer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 More... NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532 PMID:29068549 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532 PMID:29068549 NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 More... NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB1 high mobility group box 1 IAGP ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERF ETS2 repressor factor IAGP
EXP
ClinVar Annotator: match by term: Chitayat syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
Crossed Polydactyly, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) RGD PMID:16874813 RGD:12738209 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 IAGP
EXP
ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2
ClinVar Annotator: match by term: Culler-Jones syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 More... NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CANT1 calcium activated nucleotidase 1 IAGP
ISS
EXP
ClinVar Annotator: match by term: Desbuquois Dysplasia
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
OMIM:251450 | OMIM:615777
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:19853239 PMID:25741868 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G XYLT1 xylosyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:17576681 PMID:24581741 PMID:25741868 More... NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CEP20 centrosomal protein 20 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625
JBrowse link
G LOC126862302 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,404,960...17,406,159 JBrowse link
G LOC129390772 MPRA-validated peak2513 silencer IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,149,959...17,150,159 JBrowse link
G LOC130058563 ATAC-STARR-seq lymphoblastoid active region 10502 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,134,754...17,134,813 JBrowse link
G LOC130058564 ATAC-STARR-seq lymphoblastoid active region 10503 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,252,292...17,252,391 JBrowse link
G LOC130058565 ATAC-STARR-seq lymphoblastoid active region 10504 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,259,101...17,259,150 JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 PMID:31785789 NCBI chr16:17,259,311...17,259,710 JBrowse link
G LOC130058567 ATAC-STARR-seq lymphoblastoid silent region 7235 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,303,414...17,303,483 JBrowse link
G LOC130058568 ATAC-STARR-seq lymphoblastoid active region 10506 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,347,580...17,347,669 JBrowse link
G LOC130058569 ATAC-STARR-seq lymphoblastoid active region 10507 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,360,013...17,360,102 JBrowse link
G LOC130058570 ATAC-STARR-seq lymphoblastoid active region 10508 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,369,586...17,369,675 JBrowse link
G LOC130058571 ATAC-STARR-seq lymphoblastoid silent region 7236 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,376,026...17,376,095 JBrowse link
G LOC130058572 ATAC-STARR-seq lymphoblastoid active region 10509 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,462,125...17,462,174 JBrowse link
G LOC130058573 ATAC-STARR-seq lymphoblastoid active region 10510 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,468,075...17,468,144 JBrowse link
G LOC130058574 ATAC-STARR-seq lymphoblastoid active region 10511 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,469,740...17,470,009 JBrowse link
G LOC130058575 ATAC-STARR-seq lymphoblastoid active region 10512 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,470,130...17,470,179 JBrowse link
G LOC130061867 ATAC-STARR-seq lymphoblastoid silent region 9077 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:19853239 PMID:22539336 NCBI chr17:79,009,484...79,009,863 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G NOMO3 NODAL modulator 3 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:16,232,528...16,294,811
Ensembl chr16:16,232,506...16,300,806
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721 NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736
JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 NCBI chr16:17,259,311...17,259,710 JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar
OMIM
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 IAGP
EXP
ClinVar Annotator: match by term: Guttmacher syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24239177 PMID:25741868 PMID:28492532 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G LOC107126288 NUP98-HOXA13 recombination region IAGP ClinVar Annotator: match by term: Guttmacher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:27,198,443...27,202,743 JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Cerebellar cyst ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP
EXP
ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by term: GLI2-related condition
ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar cyst
ClinVar
CTD
OMIM
PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G KIF7 kinesin family member 7 EXP
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:21552264 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrolethalus syndrome 1
OMIM
CTD
ClinVar
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar
PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25741868 More... NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G LOC126862216 BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 2 ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr15:89,628,764...89,629,963 JBrowse link
hypoplastic or aplastic tibia with polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP
EXP
ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 More... NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP DNA:point mutations:enhancer:404G>A, 404G>C (human) RGD PMID:19847792 RGD:12801438 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G ZRS ZPA regulatory sequence IAGP ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly ClinVar
OMIM
PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 More... NCBI chr 7:156,790,708...156,793,079 JBrowse link
McKusick-Kaufman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC128706665 uncharacterized LOC128706665 IAGP ClinVar Annotator: match by term: McKusick-Kaufman syndrome ClinVar NCBI chr20:10,413,708...10,434,222 JBrowse link
G LOC128706666 uncharacterized LOC128706666 IAGP ClinVar Annotator: match by term: McKusick-Kaufman syndrome ClinVar NCBI chr20:10,413,708...10,434,222 JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP
EXP
ClinVar Annotator: match by term: McKusick Kaufman syndrome
ClinVar Annotator: match by term: MKKS-related condition
ClinVar Annotator: match by term: McKusick-Kaufman syndrome
ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 More... NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC105371520 uncharacterized LOC105371520 IAGP ClinVar Annotator: match by term: Meckel syndrome 13 ClinVar PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr17:8,174,610...8,182,812 JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Meckel syndrome 13 ClinVar
OMIM
PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP
EXP
DNA:frameshift mutation:exon:c.5489del (human)
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11070805, RGD:11063677 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 NCBI chr12:88,062,639...88,062,839 JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160
JBrowse link
G TMEM218 transmembrane protein 218 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome ClinVar
OMIM
PMID:25741868 PMID:30573562 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome ClinVar PMID:25741868 PMID:30573562 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G LOC130063979 ATAC-STARR-seq lymphoblastoid silent region 10375 IAGP ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr19:18,161,088...18,161,587 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD
ClinVar
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC6 armadillo repeat containing 6 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,033,603...19,058,176
Ensembl chr19:19,033,575...19,060,311
JBrowse link
G ARRDC2 arrestin domain containing 2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,001,124...18,014,102
Ensembl chr19:18,001,132...18,014,102
JBrowse link
G BORCS8 BLOC-1 related complex subunit 8 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,176,906...19,192,152
Ensembl chr19:19,176,903...19,192,591
JBrowse link
G CCDC124 coiled-coil domain containing 124 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,933,015...17,943,985
Ensembl chr19:17,933,015...17,943,991
JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G COPE COPI coat complex subunit epsilon IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,899,514...18,919,387
Ensembl chr19:18,899,514...18,919,387
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,683,680...18,782,333
Ensembl chr19:18,683,678...18,782,333
JBrowse link
G DDX49 DEAD-box helicase 49 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,919,715...18,928,630
Ensembl chr19:18,919,705...18,929,189
JBrowse link
G ELL elongation factor for RNA polymerase II IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,442,663...18,522,070
Ensembl chr19:18,442,663...18,522,116
JBrowse link
G FKBP8 FKBP prolyl isomerase 8 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,531,763...18,543,573
Ensembl chr19:18,531,751...18,544,077
JBrowse link
G GDF1 growth differentiation factor 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G GDF15 growth differentiation factor 15 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176
JBrowse link
G HOMER3 homer scaffold protein 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,929,201...18,941,217
Ensembl chr19:18,929,201...18,941,261
JBrowse link
G IFI30 IFI30 lysosomal thiol reductase IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,173,813...18,178,117
Ensembl chr19:18,173,162...18,178,117
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G INSL3 insulin like 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,816,512...17,821,519
Ensembl chr19:17,816,512...17,821,574
JBrowse link
G IQCN IQ motif containing N IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500
JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,434,388...18,438,133
Ensembl chr19:18,434,388...18,438,167
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
JBrowse link
G KCNN1 potassium calcium-activated channel subfamily N member 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,951,290...18,000,085
Ensembl chr19:17,951,293...18,000,085
JBrowse link
G KLHL26 kelch like family member 26 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,637,028...18,671,721
Ensembl chr19:18,637,025...18,671,721
JBrowse link
G KXD1 KxDL motif containing 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,557,870...18,569,378
Ensembl chr19:18,557,762...18,569,387
JBrowse link
G LOC130063979 ATAC-STARR-seq lymphoblastoid silent region 10375 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:18,161,088...18,161,587 JBrowse link
G LOC130063980 ATAC-STARR-seq lymphoblastoid active region 14302 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,168,434...18,168,583 JBrowse link
G LRRC25 leucine rich repeat containing 25 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,391,137...18,397,622
Ensembl chr19:18,391,137...18,397,622
JBrowse link
G LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,306,236...18,323,076
Ensembl chr19:18,306,236...18,323,112
JBrowse link
G MAST3 microtubule associated serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,097,778...18,151,687
Ensembl chr19:18,097,778...18,151,692
JBrowse link
G MEF2B myocyte enhancer factor 2B IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,145,567...19,170,263
Ensembl chr19:19,145,567...19,192,131
JBrowse link
G MPV17L2 MPV17 mitochondrial inner membrane protein like 2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,193,218...18,196,948
Ensembl chr19:18,193,218...18,196,948
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,201,409...19,203,414
Ensembl chr19:19,201,409...19,203,414
JBrowse link
G PDE4C phosphodiesterase 4C IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,207,965...18,255,362
Ensembl chr19:18,207,965...18,248,200
JBrowse link
G PGPEP1 pyroglutamyl-peptidase I IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,340,598...18,369,950
Ensembl chr19:18,340,598...18,369,950
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
JBrowse link
G RAB3A RAB3A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,196,784...18,204,042
Ensembl chr19:18,196,784...18,204,042
JBrowse link
G REX1BD required for excision 1-B domain containing IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,588,798...18,592,337
Ensembl chr19:18,588,685...18,592,337
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RPL18A ribosomal protein L18a IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,859,910...17,863,319
Ensembl chr19:17,859,910...17,864,153
JBrowse link
G SLC25A42 solute carrier family 25 member 42 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030
JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SSBP4 single stranded DNA binding protein 4 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,402,725...18,434,562
Ensembl chr19:18,418,864...18,434,562
JBrowse link
G SUGP2 SURP and G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,990,887...19,033,844
Ensembl chr19:18,990,888...19,034,023
JBrowse link
G TMEM161A transmembrane protein 161A IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:19,119,169...19,138,478
Ensembl chr19:19,119,169...19,138,513
JBrowse link
G TMEM59L transmembrane protein 59 like IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,612,870...18,621,039
Ensembl chr19:18,607,430...18,621,039
JBrowse link
G UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,563,766...18,577,550
Ensembl chr19:18,571,730...18,577,550
JBrowse link
G UPF1 UPF1 RNA helicase and ATPase IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,831,959...18,868,230
Ensembl chr19:18,831,959...18,868,230
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18813315 PMID:22500628 PMID:22729223 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G AKT3-IT1 AKT3 intronic transcript 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,793,205...243,794,400
Ensembl chr 1:243,793,205...243,794,400
JBrowse link
G CEP170 centrosomal protein 170 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,124,428...243,255,785
Ensembl chr 1:243,124,428...243,255,348
JBrowse link
G LINC01347 long intergenic non-protein coding RNA 1347 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,056,314...243,101,744
Ensembl chr 1:243,056,307...243,101,744
Ensembl chr 1:243,056,307...243,101,744
JBrowse link
G LINC02774 long intergenic non-protein coding RNA 2774 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,917,402...244,047,317
Ensembl chr 1:243,917,402...244,047,317
JBrowse link
G LOC110120698 VISTA enhancer hs545 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,713,165...243,714,591 JBrowse link
G LOC111828504 Sharpr-MPRA regulatory regions 872 and 4511 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,341,427...244,341,981 JBrowse link
G LOC112577566 Sharpr-MPRA regulatory region 14056 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,939,247...243,939,541 JBrowse link
G LOC122152350 Sharpr-MPRA regulatory region 9224 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:242,788,007...242,788,301 JBrowse link
G LOC122152351 Sharpr-MPRA regulatory region 8354 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,316,367...243,316,661 JBrowse link
G LOC122152352 Sharpr-MPRA regulatory region 5448 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,476,007...243,476,301 JBrowse link
G LOC122152353 Sharpr-MPRA regulatory region 1428 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,622,007...243,622,301 JBrowse link
G LOC122152354 Sharpr-MPRA regulatory region 3339 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,067,867...244,068,161 JBrowse link
G LOC126806071 BRD4-independent group 4 enhancer GRCh37_chr1:242611784-242612983 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:242,448,482...242,449,681 JBrowse link
G LOC126806072 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:242792333-242793532 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:242,629,031...242,630,230 JBrowse link
G LOC126806073 MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,267,835...243,269,034 JBrowse link
G LOC126806074 BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,453,768...243,454,967 JBrowse link
G LOC126806075 MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,239,067...244,240,266 JBrowse link
G LOC129388799 MPRA-validated peak4110 silencer IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,019,103...243,019,303 JBrowse link
G LOC129932891 ATAC-STARR-seq lymphoblastoid active region 2830 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932892 ATAC-STARR-seq lymphoblastoid active region 2831 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932893 ATAC-STARR-seq lymphoblastoid silent region 2011 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932894 ATAC-STARR-seq lymphoblastoid active region 2832 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932895 ATAC-STARR-seq lymphoblastoid silent region 2012 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932896 ATAC-STARR-seq lymphoblastoid active region 2833 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932897 ATAC-STARR-seq lymphoblastoid active region 2836 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932898 ATAC-STARR-seq lymphoblastoid active region 2837 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932899 ATAC-STARR-seq lymphoblastoid active region 2838 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC129932900 ATAC-STARR-seq lymphoblastoid active region 2839 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610
G LOC440742 uncharacterized LOC440742 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,063,664...244,067,910
Ensembl chr 1:244,064,330...244,067,909
JBrowse link
G MIR4677 microRNA 4677 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,346,176...243,346,255
Ensembl chr 1:243,346,176...243,346,255
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SPMIP3 sperm microtubule inner protein 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,352,635...244,389,663
Ensembl chr 1:244,352,635...244,389,663
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND2 cyclin D2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar
PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CCND2-AS1 CCND2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ClinVar PMID:25741868 NCBI chr12:4,248,767...4,276,184
Ensembl chr12:4,247,981...4,276,252
JBrowse link
Pallister-Hall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP
ISS
EXP
ISO
DNA:frameshift deletions
ClinVar Annotator: match by term: Pallister-Hall syndrome
ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
OMIM:146510
CTD Direct Evidence: marker/mechanism
DNA:deletions
DNA:mutations:exon, intron:multiple
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:6641002 PMID:9054938 PMID:9148633 PMID:10441570 PMID:10945658 More... RGD:1599838, RGD:12738143, RGD:12738205, RGD:12738222 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LINC00244 long intergenic non-protein coding RNA 244 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,540,491...156,541,101
Ensembl chr 7:156,540,491...156,541,103
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB
ClinVar
OMIM
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LOC113687207 Sharpr-MPRA regulatory region 13578 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 7:156,759,915...156,760,209 JBrowse link
G LOC114255744 ZRS shadow enhancer IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 7:156,765,178...156,768,157 JBrowse link
G LOC126860251 MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,657,142...156,658,341 JBrowse link
G LOC126860252 MED14-independent group 3 enhancer GRCh37_chr7:156707384-156708583 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,914,690...156,915,889 JBrowse link
G LOC129999719 ATAC-STARR-seq lymphoblastoid active region 26907 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999720 ATAC-STARR-seq lymphoblastoid active region 26908 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999721 ATAC-STARR-seq lymphoblastoid active region 26909 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999722 ATAC-STARR-seq lymphoblastoid active region 26910 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999723 ATAC-STARR-seq lymphoblastoid active region 26911 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549
G LOC129999724 ATAC-STARR-seq lymphoblastoid active region 26912 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549
G LOC129999725 ATAC-STARR-seq lymphoblastoid active region 26913 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549
G LOC129999726 ATAC-STARR-seq lymphoblastoid silent region 18852 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999727 ATAC-STARR-seq lymphoblastoid silent region 18853 IAGP ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:18178630 PMID:28492532
G LOC129999728 ATAC-STARR-seq lymphoblastoid active region 26914 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999729 ATAC-STARR-seq lymphoblastoid active region 26915 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999730 ATAC-STARR-seq lymphoblastoid active region 26916 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999731 ATAC-STARR-seq lymphoblastoid active region 26917 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC285889 uncharacterized LOC285889 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,437,789...156,445,588 JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RNF32 ring finger protein 32 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,640,204...156,677,130
Ensembl chr 7:156,640,281...156,677,130
JBrowse link
G RNF32-AS1 RNF32 antisense RNA 1 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,654,742...156,659,587
Ensembl chr 7:156,654,185...156,659,582
JBrowse link
G RNF32-DT RNF32 divergent transcript IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,472,099...156,640,535
Ensembl chr 7:156,388,922...156,640,654
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G ZRS ZPA regulatory sequence IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 7:156,790,708...156,793,079 JBrowse link
Polydactyly-Macrocephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAX MYC associated factor X susceptibility IAGP OMIM NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
Postaxial Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11A BCL11 transcription factor A IAGP ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G EFCAB7 EF-hand calcium binding domain 7 IAGP ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 1:63,523,525...63,585,370
Ensembl chr 1:63,523,372...63,572,693
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:10441570 PMID:25741868 PMID:28492532 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly ClinVar PMID:30982135 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
Postaxial Polydactyly, Type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:9916796 PMID:16199547 PMID:16611712 PMID:18368028 PMID:25285676 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Postaxial polydactyly type A
CTD
ClinVar
PMID:25741868 PMID:30395363 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP
EXP
DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human)
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Postaxial polydactyly type B
ClinVar Annotator: match by term: Postaxial polydactyly type A1
ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B
ClinVar Annotator: match by term: GLI3-related postaxial polydactyly
ClinVar Annotator: match by term: Postaxial polydactyly, type a1/b
ClinVar Annotator: match by term: Postaxial polydactyly B
DNA:nonsense mutation: :p.K778X (human)
ClinVar
CTD
OMIM
RGD
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 More... RGD:12738211, RGD:12738223 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G IQCE IQ motif containing E IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:25741868 PMID:31549751 NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733
JBrowse link
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:25741868 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
Postaxial Polydactyly, Type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type a10
ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10
OMIM
ClinVar
PMID:25741868 PMID:30982135 PMID:32147526 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
JBrowse link
G LOC126807453 BRD4-independent group 4 enhancer GRCh37_chr5:93800512-93801711 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 ClinVar PMID:25741868 NCBI chr 5:94,464,807...94,466,006 JBrowse link
Postaxial Polydactyly, Type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF141 zinc finger protein 141 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A6 ClinVar
OMIM
PMID:23160277 PMID:25741868 NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
JBrowse link
Postaxial Polydactyly, Type A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQCE IQ motif containing E IAGP ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A7
ClinVar Annotator: match by term: Polydactyly, postaxial, type a7
ClinVar
OMIM
PMID:25741868 PMID:28488682 PMID:31549751 NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733
JBrowse link
G LOC126859928 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2611286-2612485 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 ClinVar PMID:25741868 NCBI chr 7:2,571,652...2,572,851 JBrowse link
G LOC129997827 ATAC-STARR-seq lymphoblastoid silent region 17880 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 ClinVar PMID:25741868
Postaxial Polydactyly, Type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI1 GLI family zinc finger 1 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type A8
ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A8
OMIM
ClinVar
PMID:25741868 PMID:28973407 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
Postaxial Polydactyly, Type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIBAR1 CBY1 interacting BAR domain containing 1 IAGP ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 OMIM
ClinVar
PMID:25741868 PMID:30395363 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
JBrowse link
Preaxial Polydactyly I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI1 GLI family zinc finger 1 IAGP ClinVar Annotator: match by term: FROMONT ANOMALY
ClinVar Annotator: match by term: Polydactyly, preaxial I
OMIM
ClinVar
PMID:25741868 PMID:30620395 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
Preaxial Polydactyly II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP
EXP
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: Polydactyly, preaxial II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TPT-PS SYNDROME
ClinVar
CTD
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LOC129999727 ATAC-STARR-seq lymphoblastoid silent region 18853 IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:28492532
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP RGD PMID:20569257 PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G ZRS ZPA regulatory sequence IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II OMIM
ClinVar
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 7:156,790,708...156,793,079 JBrowse link
Preaxial Polydactyly IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP
EXP
DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Preaxial polydactyly 4
ClinVar Annotator: match by term: Polysyndactyly uncomplicated
DNA:nonsense mutation:exon:p.R290X (C868T) (human)
CTD
ClinVar
OMIM
RGD
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:18000979 More... RGD:12738141, RGD:12738221 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G ZIC3 Zic family member 3 ISO RGD PMID:22234993 RGD:12738220 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Saldino-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type
ClinVar Annotator: match by term: Saldino-Noonan Syndrome
ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNDC4 fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 2:27,491,883...27,495,200
Ensembl chr 2:27,491,883...27,495,200
JBrowse link
G GCKR glucokinase regulator IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684
JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly
ClinVar
OMIM
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G KRTCAP3 keratinocyte associated protein 3 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24140113 More... NCBI chr 2:27,442,381...27,446,481
Ensembl chr 2:27,442,366...27,446,481
JBrowse link
G LOC126806173 BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25741868 More... NCBI chr 2:27,453,190...27,454,389 JBrowse link
G LOC126806174 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly
ClinVar PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 2:27,458,819...27,460,018 JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
JBrowse link
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 More... NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G LOC126860772 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 More... NCBI chr 9:128,634,693...128,635,892 JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly ClinVar PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:29068549 More... NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP120 centrosomal protein 120 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25251415 PMID:25361962 More... NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly
ClinVar Annotator: match by term: KIAA0586-related condition
ClinVar
OMIM
PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly ClinVar PMID:26077881 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly ClinVar
OMIM
PMID:8960501 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26077881 More... NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT52 intraflagellar transport 52 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly ClinVar
OMIM
PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 More... NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNLT2B dynein light chain Tctex-type 2B IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly ClinVar
OMIM
PMID:25741868 PMID:26044572 PMID:28492532 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299
JBrowse link
G LOC129938285 ATAC-STARR-seq lymphoblastoid active region 21087 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly ClinVar PMID:25741868
G TM4SF19-DYNLT2B TM4SF19-DYNLT2B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:196,316,085...196,338,420
Ensembl chr 3:196,316,082...196,338,373
JBrowse link
short-rib thoracic dysplasia 18 with polydactyly 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: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly
ClinVar
OMIM
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT81 intraflagellar transport 81 IAGP ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly
ClinVar
OMIM
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793
JBrowse link
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INTU inturned planar cell polarity protein IAGP ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic
ClinVar
OMIM
PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G LOC126807151 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly ClinVar NCBI chr 4:127,686,687...127,687,886 JBrowse link
G WDR35 WD repeat domain 35 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic ClinVar PMID:25741868 PMID:27158779 PMID:28400947 PMID:29068549 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
Short-Rib Thoracic Dysplasia 21 without Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34016807 More... NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBR4 carbonyl reductase 4 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr 4:168,894,486...169,010,255
Ensembl chr 4:168,863,770...169,010,275
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:23339108 PMID:24183451 PMID:25741868 PMID:26938784 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 More... NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 More... NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT74 intraflagellar transport 74 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:29068549 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G LOC126806174 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 2:27,458,819...27,460,018 JBrowse link
G LOC126806961 BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 More... NCBI chr 4:5,639,716...5,640,915 JBrowse link
G LOC129993365 ATAC-STARR-seq lymphoblastoid silent region 15794 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:28492532
G LOC129993366 ATAC-STARR-seq lymphoblastoid active region 22138 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar
G LOC129993367 ATAC-STARR-seq lymphoblastoid active region 22139 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G NEK1 NIMA related kinase 1 susceptibility IAGP ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly
ClinVar Annotator: match by term: NEK1-related condition
ClinVar
OMIM
PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457
JBrowse link
G SH3RF1 SH3 domain containing ring finger 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr 4:169,094,259...169,270,956
Ensembl chr 4:169,094,259...169,270,956
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly
ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
ClinVar PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 More... NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G WDR35 WD repeat domain 35 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 PMID:28870638 PMID:29068549 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
short-rib thoracic dysplasia 7 with or without polydactyly 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: Short-rib thoracic dysplasia 7 with or without polydactyly ClinVar PMID:28492532
G MATN3 matrilin 3 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly 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 WDR35 WD repeat domain 35 IAGP
ISS
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly
OMIM:614091
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Short rib polydactyly syndrome 5
ClinVar
MouseDO
OMIM
PMID:17935248 PMID:21473986 PMID:22486404 PMID:24033266 PMID:25741868 More... NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly ClinVar
OMIM
PMID:9068549 PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 More... NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G LOC129999765 ATAC-STARR-seq lymphoblastoid silent region 18874 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:28492532
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ADCY9 adenylate cyclase 9 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,953,387...4,116,442
Ensembl chr16:3,953,387...4,116,442
JBrowse link
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328
JBrowse link
G AMDHD2 amidohydrolase domain containing 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,520,371...2,531,417
Ensembl chr16:2,520,357...2,531,422
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378
JBrowse link
G ANTKMT adenine nucleotide translocase lysine methyltransferase IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:721,146...722,590
Ensembl chr16:720,581...722,590
JBrowse link
G ARHGDIG Rho GDP dissociation inhibitor gamma IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:280,591...283,010
Ensembl chr16:280,450...283,010
JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
JBrowse link
G AXIN1 axin 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
JBrowse link
G BAIAP3 BAI1 associated protein 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,333,645...1,349,439
Ensembl chr16:1,333,638...1,349,439
JBrowse link
G BICDL2 BICD family like cargo adaptor 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,027,682...3,036,944
Ensembl chr16:3,027,682...3,036,944
JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905
JBrowse link
G C16orf90 chromosome 16 open reading frame 90 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,493,484...3,496,652
Ensembl chr16:3,493,484...3,495,489
JBrowse link
G C16orf96 chromosome 16 open reading frame 96 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,538,601...4,600,758
Ensembl chr16:4,556,340...4,600,758
JBrowse link
G C1QTNF8 C1q and TNF related 8 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,088,226...1,096,306
Ensembl chr16:1,088,226...1,096,711
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169
JBrowse link
G CAPN15 calpain 15 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636
JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605
JBrowse link
G CCDC154 coiled-coil domain containing 154 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,434,383...1,444,556
Ensembl chr16:1,434,383...1,444,556
JBrowse link
G CCDC78 coiled-coil domain containing 78 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:722,582...726,880
Ensembl chr16:722,582...726,954
JBrowse link
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
JBrowse link
G CDIP1 cell death inducing p53 target 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,510,669...4,538,773
Ensembl chr16:4,510,669...4,538,828
JBrowse link
G CEMP1 cementum protein 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,530,035...2,531,408
Ensembl chr16:2,530,035...2,531,417
JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:788,620...798,074
Ensembl chr16:788,046...800,737
JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:729,765...740,997
Ensembl chr16:729,760...741,329
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G CLDN6 claudin 6 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,014,712...3,018,183
Ensembl chr16:3,014,712...3,020,071
JBrowse link
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505
JBrowse link
G CLUAP1 clusterin associated protein 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,495,427...3,539,048
Ensembl chr16:3,500,976...3,539,048
JBrowse link
G CORO7 coronin 7 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705
JBrowse link
G CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494
JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,612,360...1,677,908
Ensembl chr16:1,612,337...1,677,908
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DECR2 2,4-dienoyl-CoA reductase 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:401,885...412,482
Ensembl chr16:401,858...412,487
JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,734,537...4,749,396
Ensembl chr16:4,734,344...4,749,396
JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,425,868...4,456,775
Ensembl chr16:4,425,805...4,456,775
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711
JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300
JBrowse link
G ELOB elongin B IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,771,414...2,777,280
Ensembl chr16:2,771,414...2,777,289
JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,772,810...1,781,702
Ensembl chr16:1,772,810...1,781,708
JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207
JBrowse link
G FAM234A family with sequence similarity 234 member A IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:234,821...269,963
Ensembl chr16:234,521...272,183
JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:692,500...705,801
Ensembl chr16:692,498...705,801
JBrowse link
G FLYWCH1 FLYWCH-type zinc finger 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,911,931...2,951,208
Ensembl chr16:2,911,931...2,951,208
JBrowse link
G FLYWCH2 FLYWCH family member 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,883,195...2,899,382
Ensembl chr16:2,883,213...2,899,382
JBrowse link
G GFER growth factor, augmenter of liver regeneration IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
JBrowse link
G GLIS2 GLIS family zinc finger 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597
JBrowse link
G GNG13 G protein subunit gamma 13 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:798,041...800,734
Ensembl chr16:798,041...800,734
JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737
JBrowse link
G HAGH hydroxyacylglutathione hydrolase IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,807,629...1,827,194
Ensembl chr16:1,795,620...1,827,157
JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:727,106...729,715
Ensembl chr16:726,936...735,525
JBrowse link
G HCFC1R1 host cell factor C1 regulator 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,022,620...3,024,286
Ensembl chr16:3,022,625...3,024,286
JBrowse link
G HMOX2 heme oxygenase 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,474,736...4,510,347
Ensembl chr16:4,474,690...4,510,347
JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415
JBrowse link
G IFT140 intraflagellar transport 140 IAGP
ISS
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
OMIM:266920
ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
JBrowse link
G IL32 interleukin 32 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G JMJD8 jumonji domain containing 8 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:681,670...684,334
Ensembl chr16:681,670...684,528
JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,678,279...1,702,086
Ensembl chr16:1,678,256...1,702,280
JBrowse link
G KCTD5 potassium channel tetramerization domain containing 5 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,682,523...2,709,030
Ensembl chr16:2,682,523...2,709,030
JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,964,275...2,968,380
Ensembl chr16:2,964,216...2,968,380
JBrowse link
G LMF1 lipase maturation factor 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:853,634...981,613
Ensembl chr16:853,634...981,318
JBrowse link
G LOC126862260 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr16:1,524,507...1,525,706 JBrowse link
G LUC7L LUC7 like IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:188,990...229,449
Ensembl chr16:188,969...229,463
JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:641,828...648,474
Ensembl chr16:636,817...648,474
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEIOB meiosis specific with OB-fold IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178
JBrowse link
G METRN meteorin, glial cell differentiation regulator IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:715,118...719,655
Ensembl chr16:715,118...719,655
JBrowse link
G METTL26 methyltransferase like 26 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:634,430...636,305
Ensembl chr16:634,427...636,366
JBrowse link
G MGRN1 mahogunin ring finger 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,624,826...4,690,972
Ensembl chr16:4,616,493...4,690,974
JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453
JBrowse link
G MMP25 matrix metallopeptidase 25 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,046,561...3,060,726
Ensembl chr16:3,046,062...3,060,726
JBrowse link
G MRPL28 mitochondrial ribosomal protein L28 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:366,969...370,538
Ensembl chr16:366,969...371,289
JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150
JBrowse link
G MSLN mesothelin IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MSRB1 methionine sulfoxide reductase B1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,938,229...1,943,199
Ensembl chr16:1,938,229...1,943,199
JBrowse link
G MTRNR2L4 MT-RNR2 like 4 (pseudogene) IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,371,053...3,372,283
Ensembl chr16:3,370,979...3,372,668
JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975
JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,026,902...2,039,026
Ensembl chr16:2,025,356...2,039,026
JBrowse link
G NHLRC4 NHL repeat containing 4 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:567,005...569,495
Ensembl chr16:567,005...569,495
JBrowse link
G NLRC3 NLR family CARD domain containing 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,539,033...3,577,403
Ensembl chr16:3,539,033...3,577,403
JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,770,320...1,771,543
Ensembl chr16:1,770,320...1,771,561
JBrowse link
G NME4 NME/NM23 nucleoside diphosphate kinase 4 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:396,729...400,754
Ensembl chr16:396,725...410,367
JBrowse link
G NMRAL1 NmrA like redox sensor 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,461,694...4,476,337
Ensembl chr16:4,461,691...4,495,763
JBrowse link
G NOXO1 NADPH oxidase organizer 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,978,917...1,981,469
Ensembl chr16:1,978,917...1,984,192
JBrowse link
G NPW neuropeptide W IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,019,785...2,020,755
Ensembl chr16:2,009,926...2,020,755
JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866
JBrowse link
G NTN3 netrin 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,471,297...2,474,145
Ensembl chr16:2,471,297...2,474,145
JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,782,960...1,789,186
Ensembl chr16:1,782,932...1,789,186
JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,693,562...4,695,859
Ensembl chr16:4,693,562...4,695,859
JBrowse link
G OR1F1 olfactory receptor family 1 subfamily F member 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,188,204...3,206,556
Ensembl chr16:3,188,204...3,224,779
JBrowse link
G OR2C1 olfactory receptor family 2 subfamily C member 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,322,931...3,358,137
Ensembl chr16:3,355,889...3,357,306
JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607
JBrowse link
G PAQR4 progestin and adipoQ receptor family member 4 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,969,348...2,973,484
Ensembl chr16:2,969,270...2,973,484
JBrowse link
G PDIA2 protein disulfide isomerase family A member 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:283,164...287,215
Ensembl chr16:283,164...287,215
JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,538,021...2,603,188
Ensembl chr16:2,537,979...2,603,188
JBrowse link
G PGAP6 post-GPI attachment to proteins 6 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:370,788...386,979
Ensembl chr16:370,788...387,113
JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840
JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,972,808...2,980,446
Ensembl chr16:2,968,024...2,980,479
JBrowse link
G PRR25 proline rich 25 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:805,443...813,861 JBrowse link
G PRR35 proline rich 35 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:559,814...565,529
Ensembl chr16:560,394...565,529
JBrowse link
G PRSS21 serine protease 21 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,817,237...2,821,719
Ensembl chr16:2,817,180...2,826,304
JBrowse link
G PRSS22 serine protease 22 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,852,730...2,858,170
Ensembl chr16:2,852,730...2,858,170
JBrowse link
G PRSS27 serine protease 27 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,712,422...2,720,224
Ensembl chr16:2,712,419...2,720,551
JBrowse link
G PRSS33 serine protease 33 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,783,953...2,787,915
Ensembl chr16:2,783,953...2,787,948
JBrowse link
G PRSS41 serine protease 41 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,798,470...2,805,304
Ensembl chr16:2,798,470...2,805,304
JBrowse link
G PTX4 pentraxin 4 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,485,886...1,488,944
Ensembl chr16:1,485,886...1,488,981
JBrowse link
G RAB11FIP3 RAB11 family interacting protein 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:425,649...523,011
Ensembl chr16:425,649...523,011
JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165
JBrowse link
G RAB40C RAB40C, member RAS oncogene family IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:589,357...629,268
Ensembl chr16:589,357...629,272
JBrowse link
G RGS11 regulator of G protein signaling 11 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:268,307...275,944
Ensembl chr16:268,301...275,980
JBrowse link
G RHBDL1 rhomboid like 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:675,671...678,268
Ensembl chr16:675,671...678,268
JBrowse link
G RHOT2 ras homolog family member T2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:668,083...674,174
Ensembl chr16:668,100...674,174
JBrowse link
G RNF151 ring finger protein 151 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,966,856...1,968,949
Ensembl chr16:1,966,823...1,968,975
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397
JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
JBrowse link
G RPL3L ribosomal protein L3 like IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606
JBrowse link
G RPS2 ribosomal protein S2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,962,058...1,964,826
Ensembl chr16:1,962,058...1,964,841
JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:784,974...788,381
Ensembl chr16:784,974...788,397
JBrowse link
G SEPTIN12 septin 12 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SMIM22 small integral membrane protein 22 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,788,397...4,796,491
Ensembl chr16:4,788,397...4,796,491
JBrowse link
G SNHG9 small nucleolar RNA host gene 9 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,964,996...1,965,504
Ensembl chr16:1,964,895...1,965,509
JBrowse link
G SOX8 SRY-box transcription factor 8 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:981,770...986,979
Ensembl chr16:981,444...986,979
JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,776,712...1,782,571
Ensembl chr16:1,776,712...1,793,700
JBrowse link
G SRL sarcalumenin IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,189,374...4,242,080
Ensembl chr16:4,189,374...4,242,080
JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
JBrowse link
G SSTR5 somatostatin receptor 5 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,072,747...1,081,454
Ensembl chr16:1,063,867...1,081,454
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
G SYNGR3 synaptogyrin 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,989,970...1,994,275
Ensembl chr16:1,989,660...1,994,275
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TBL3 transducin beta like 3 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,972,053...1,982,929
Ensembl chr16:1,972,053...1,982,929
JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,460,109...2,464,963
Ensembl chr16:2,460,086...2,464,963
JBrowse link
G TELO2 telomere maintenance 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
JBrowse link
G TFAP4 transcription factor AP-4 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,257,186...4,273,023
Ensembl chr16:4,257,186...4,273,075
JBrowse link
G THOC6 THO complex subunit 6 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
JBrowse link
G TIGD7 tigger transposable element derived 7 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,298,808...3,305,430
Ensembl chr16:3,298,808...3,305,729
JBrowse link
G TMEM204 transmembrane protein 204 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,528,678...1,555,568
Ensembl chr16:1,528,688...1,555,580
JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,020,368...3,022,383
Ensembl chr16:3,018,445...3,022,383
JBrowse link
G TPSAB1 tryptase alpha/beta 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,240,705...1,242,554
Ensembl chr16:1,239,266...1,242,554
JBrowse link
G TPSB2 tryptase beta 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,228,336...1,230,184
Ensembl chr16:1,227,272...1,232,757
JBrowse link
G TPSD1 tryptase delta 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,256,069...1,259,008
Ensembl chr16:1,256,059...1,259,008
JBrowse link
G TPSG1 tryptase gamma 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,221,651...1,225,268
Ensembl chr16:1,221,651...1,225,793
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
G TRAP1 TNF receptor associated protein 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,658,037...3,717,524
Ensembl chr16:3,651,639...3,717,553
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TSR3 TSR3 ribosome maturation factor IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,349,240...1,351,878
Ensembl chr16:1,349,240...1,351,878
JBrowse link
G UBALD1 UBA like domain containing 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,608,884...4,614,888
Ensembl chr16:4,608,883...4,615,027
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,309,152...1,327,017
Ensembl chr16:1,291,444...1,327,018
JBrowse link
G UNKL unk like zinc finger IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,363,205...1,414,704
Ensembl chr16:1,363,205...1,414,751
JBrowse link
G UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,419,752...1,420,747
Ensembl chr16:1,419,752...1,420,756
JBrowse link
G VASN vasorin IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,371,848...4,383,538
Ensembl chr16:4,371,848...4,383,538
JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR24 WD repeat domain 24 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:684,622...690,398
Ensembl chr16:684,622...690,444
JBrowse link
G WDR90 WD repeat domain 90 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:648,979...667,830
Ensembl chr16:649,311...667,833
JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:630,985...634,117
Ensembl chr16:629,239...634,117
JBrowse link
G ZG16B zymogen granule protein 16B IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:2,830,303...2,832,276
Ensembl chr16:2,830,253...2,839,585
JBrowse link
G ZNF174 zinc finger protein 174 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,401,215...3,409,364
Ensembl chr16:3,401,215...3,409,364
JBrowse link
G ZNF200 zinc finger protein 200 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,222,325...3,235,158
Ensembl chr16:3,222,325...3,236,221
JBrowse link
G ZNF205 zinc finger protein 205 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,112,586...3,120,517
Ensembl chr16:3,112,560...3,120,517
JBrowse link
G ZNF213 zinc finger protein 213 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,135,029...3,142,804
Ensembl chr16:3,129,777...3,142,804
JBrowse link
G ZNF263 zinc finger protein 263 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,283,491...3,301,401
Ensembl chr16:3,283,283...3,301,401
JBrowse link
G ZNF500 zinc finger protein 500 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,744,245...4,767,162
Ensembl chr16:4,748,239...4,767,624
JBrowse link
G ZNF597 zinc finger protein 597 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,432,414...3,443,504
Ensembl chr16:3,432,414...3,443,504
JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:1,997,654...2,009,821
Ensembl chr16:1,997,654...2,009,821
JBrowse link
G ZNF75A zinc finger protein 75A IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,305,497...3,323,465
Ensembl chr16:3,305,406...3,318,852
JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,088,890...3,099,294
Ensembl chr16:3,088,890...3,099,295
JBrowse link
G ZSCAN32 zinc finger and SCAN domain containing 32 IAGP ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,382,085...3,401,004
Ensembl chr16:3,382,081...3,401,065
JBrowse link
Split-Foot Malformation with Mesoaxial Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP
EXP
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868 PMID:26755636 PMID:28492532 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MAP3K20-AS1 MAP3K20 antisense RNA 1 IAGP ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly ClinVar PMID:25741868 PMID:26755636 PMID:28492532 NCBI chr 2:173,197,712...173,282,036
Ensembl chr 2:173,166,446...173,282,036
JBrowse link
syndactyly type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP
EXP
ClinVar Annotator: match by term: Syndactyly, type IV
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 IAGP
EXP
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Synpolydactyly 2
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    physical disorder 7094
      polydactyly 482
        Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
        Biemond Syndrome II 0
        Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 1
        CHITAYAT SYNDROME 1
        Crossed Polydactyly, Type I 1
        Crossed Polysyndactyly 0
        Culler-Jones syndrome 1
        Desbuquois dysplasia + 25
        Garret Tripp Syndrome 0
        Hirschsprung Disease Polydactyly Heart Disease 0
        Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
        Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
        Kozlowski-Krajewska Syndrome 0
        Laurence Prosser Rocker Syndrome 0
        Liver Fibrocystic Disease and Polydactyly 0
        Maroteaux Fonfria Syndrome 0
        McKusick-Kaufman syndrome 3
        Meckel syndrome 13 2
        Meckel syndrome 4 4
        Meckel-Like Cerebrorenodigital Syndrome 0
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 87
        Mexican Cardiomelic Dysplasia 0
        Pallister-Hall syndrome + 2
        Pfeiffer Mayer Syndrome 0
        Polydactyly Myopia Syndrome 0
        Postaxial Polydactyly + 23
        Preaxial Polydactyly + 31
        Pseudotrisomy 13 Syndrome 0
        Santos Mateus Leal Syndrome 0
        Santos Syndrome 0
        Split-Foot Malformation with Mesoaxial Polydactyly 2
        Syndactyly-Polydactyly-Earlobe Syndrome 0
        Synpolydactyly 2 1
        Synpolydactyly 3 0
        Synpolydactyly with Foot Anomalies 0
        Thai Symphalangism Syndrome 0
        Tibia Absent Polydactyly Arachnoid Cyst 0
        Urioste Martinez-Frias Syndrome 0
        asphyxiating thoracic dystrophy + 265
        holoprosencephaly 9 2
        hydrolethalus syndrome + 4
        hypoplastic or aplastic tibia with polydactyly 3
        syndactyly type 4 2
Path 2
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33173
        Congenital Abnormalities 13764
          Musculoskeletal Abnormalities 5196
            Congenital Limb Deformities 1405
              polydactyly 482
                Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
                Biemond Syndrome II 0
                Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 1
                CHITAYAT SYNDROME 1
                Crossed Polydactyly, Type I 1
                Crossed Polysyndactyly 0
                Culler-Jones syndrome 1
                Desbuquois dysplasia + 25
                Garret Tripp Syndrome 0
                Hirschsprung Disease Polydactyly Heart Disease 0
                Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                Kozlowski-Krajewska Syndrome 0
                Laurence Prosser Rocker Syndrome 0
                Liver Fibrocystic Disease and Polydactyly 0
                Maroteaux Fonfria Syndrome 0
                McKusick-Kaufman syndrome 3
                Meckel syndrome 13 2
                Meckel syndrome 4 4
                Meckel-Like Cerebrorenodigital Syndrome 0
                Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 87
                Mexican Cardiomelic Dysplasia 0
                Pallister-Hall syndrome + 2
                Pfeiffer Mayer Syndrome 0
                Polydactyly Myopia Syndrome 0
                Postaxial Polydactyly + 23
                Preaxial Polydactyly + 31
                Pseudotrisomy 13 Syndrome 0
                Santos Mateus Leal Syndrome 0
                Santos Syndrome 0
                Split-Foot Malformation with Mesoaxial Polydactyly 2
                Syndactyly-Polydactyly-Earlobe Syndrome 0
                Synpolydactyly 2 1
                Synpolydactyly 3 0
                Synpolydactyly with Foot Anomalies 0
                Thai Symphalangism Syndrome 0
                Tibia Absent Polydactyly Arachnoid Cyst 0
                Urioste Martinez-Frias Syndrome 0
                asphyxiating thoracic dystrophy + 265
                holoprosencephaly 9 2
                hydrolethalus syndrome + 4
                hypoplastic or aplastic tibia with polydactyly 3
                syndactyly type 4 2
paths to the root