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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 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ALX4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 2:18,070,726...18,085,685
Ensembl chr 2:18,037,401...18,085,683 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,265,693...121,273,813
Ensembl chr15:121,266,127...121,273,812 		JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,520,003...121,547,520
Ensembl chr15:121,522,550...121,547,497 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,254,355...121,265,564
Ensembl chr15:121,254,355...121,265,569 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:20104584 PMID:25236687 PMID:25741868 PMID:26295337 PMID:26467025 More... NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,190 		JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,547,666...121,553,590
Ensembl chr15:121,544,230...121,553,288 		JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 ISO OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 MouseDO NCBI chr 4:42,957,848...42,985,482
Ensembl chr 4:42,957,712...42,985,459 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,207,139...121,212,888
Ensembl chr15:121,207,142...121,212,766 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864 		JBrowse link
G ETV2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:33359164 NCBI chr 6:45,085,984...45,089,592
Ensembl chr 6:45,087,100...45,089,626 		JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,271,844...121,285,091
Ensembl chr15:121,271,848...121,285,091 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly ClinVar PMID:10441570 PMID:25741868 PMID:28492532 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,507,560...121,515,299
Ensembl chr15:121,507,564...121,515,300 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:22233338 PMID:25741868 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G IFT80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12701101 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G INHA inhibin subunit alpha ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		JBrowse link
G KIAA0586 KIAA0586 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15554946 NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,504,638...187,642,492 		JBrowse link
G KIF3A kinesin family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17698054 NCBI chr 2:134,932,339...135,069,408
Ensembl chr 2:134,932,615...135,069,377 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 NCBI chr 6:49,572,905...49,619,120
Ensembl chr 6:49,577,403...49,618,921 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11954550 NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:18327255 PMID:20301500 PMID:24886560 PMID:25741868 PMID:26092869 More... NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,190,062 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,560,009...121,581,314
Ensembl chr15:121,560,008...121,581,188 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17427195 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,364,165...121,371,430 JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,212,370...121,218,796
Ensembl chr15:121,212,881...121,218,812 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:point mutation:enhancer:g.106954C>T (human) RGD PMID:10021368 PMID:14597572 PMID:22903933 RGD:12801421 RGD:12801429 RGD:12801449 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,105,800...121,203,990
Ensembl chr15:121,195,246...121,203,985 		JBrowse link
G SLC4A3 solute carrier family 4 member 3 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,629,794...121,643,554
Ensembl chr15:121,630,316...121,643,539 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:28492532 PMID:34953066 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,443,976...121,501,453 JBrowse link
G STK11IP serine/threonine kinase 11 interacting protein ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,604,075...121,619,066
Ensembl chr15:121,604,166...121,619,063 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,285,065...121,288,475
Ensembl chr15:121,284,920...121,288,473 		JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,553,686...121,559,860
Ensembl chr15:121,553,694...121,559,869 		JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853 		JBrowse link
G TUBD1 tubulin delta 1 ISO ClinVar Annotator: match by term: Polydactyly ClinVar PMID:25741868 NCBI chr12:36,079,939...36,111,306
Ensembl chr12:36,079,943...36,111,252 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO DNA:deletion:intron (rat) RGD PMID:19191224 RGD:2312786 NCBI chr 9:41,639,536...41,839,254
Ensembl chr 9:41,639,701...41,836,742 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Polydactyly ClinVar NCBI chr15:121,243,116...121,246,075
Ensembl chr15:121,243,116...121,246,068 		JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:32,610,041...32,627,337
Ensembl chr 9:32,610,297...32,627,337 		JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr12:60,162,656...60,171,586
Ensembl chr12:60,162,713...60,171,961 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26092869 NCBI chr 9:8,393,610...8,512,843
Ensembl chr 9:8,393,612...8,512,848 		JBrowse link
G CEP120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:126,840,262...126,930,117
Ensembl chr 2:126,840,266...126,930,483 		JBrowse link
G CEP126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:32,631,859...32,715,458
Ensembl chr 9:32,631,897...32,705,793 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:32,753,274...32,795,303
Ensembl chr 9:32,765,880...32,795,297 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466187 NCBI chr 7:46,658,671...46,723,286
Ensembl chr 7:46,658,681...46,723,585 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832 		JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,674,524...33,707,648
Ensembl chr 9:33,674,268...33,707,618 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 More... NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More... NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27666822 NCBI chr 9:130,543,911...130,570,486
Ensembl chr 9:130,541,660...130,570,702 		JBrowse link
G FUZ fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 6:54,823,680...54,830,425
Ensembl chr 6:54,823,668...54,829,506 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135 		JBrowse link
G IFT172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		JBrowse link
G IFT52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466190 PMID:28492532 PMID:29068549 NCBI chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674 		JBrowse link
G IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 1:196,084,498...196,173,880
Ensembl chr 1:196,086,072...196,173,880 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 More... NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G IFT81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr14:31,425,548...31,615,003
Ensembl chr14:31,425,658...31,615,000 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G INTU inturned planar cell polarity protein ISO 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 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650 		JBrowse link
G KIAA0586 KIAA0586 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,504,638...187,642,492 		JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 NCBI chr12:50,737,158...50,793,187
Ensembl chr12:50,742,773...50,898,331 		JBrowse link
G LBR lamin B receptor ISO 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 chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854 		JBrowse link
G MATN3 matrilin 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047 		JBrowse link
G MMP27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,366,342...33,379,828
Ensembl chr 9:33,366,345...33,379,789 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:133,774,548...133,798,920
Ensembl chr13:133,774,574...133,800,038 		JBrowse link
G RAB34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr12:44,951,989...44,956,458
Ensembl chr12:44,951,210...44,956,119 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382 		JBrowse link
G SLTM SAFB like transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr 1:113,085,095...113,140,604
Ensembl chr 1:113,084,008...113,136,599 		JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO MouseDO NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,153 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:24183451 PMID:28492532 PMID:29068549 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		JBrowse link
G TMEM123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:33,084,820...33,160,346
Ensembl chr 9:33,084,822...33,160,311 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO 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
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 | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy		 ClinVar PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		JBrowse link
G WDR19 WD repeat domain 19 ISO 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 ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		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 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G IFT140 intraflagellar transport 140 ISO OMIM:208500 MouseDO NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		JBrowse link
G RAB34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr12:44,951,989...44,956,458
Ensembl chr12:44,951,210...44,956,119 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		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 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I ClinVar PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 PMID:28492532
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly OMIM
ClinVar		 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719 		JBrowse link
G FAM98C family with sequence similarity 98 member C ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 6:47,315,406...47,319,486
Ensembl chr 6:47,315,417...47,319,485 		JBrowse link
G IFT80 intraflagellar transport 80 ISO OMIM:613091 MouseDO NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375 		JBrowse link
G LOC100521350 transmembrane protein 256-like ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 1:73,130,766...73,131,276 JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:21211617 PMID:25741868 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 NCBI chr13:133,774,548...133,798,920
Ensembl chr13:133,774,574...133,800,038 		JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		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 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		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 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO 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 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		JBrowse link
G WDR19 WD repeat domain 19 ISO 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 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		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 ISO ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr11:7,195,556...7,321,071 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 ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538 		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 ISO DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) RGD PMID:16874813 RGD:12738209 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		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 ISO ClinVar Annotator: match by term: Culler-Jones syndrome | ClinVar Annotator: match by term: GLI2-related disorder OMIM
ClinVar		 PMID:6726521 PMID:9536098 PMID:15994174 PMID:16327884 PMID:17576681 More... NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		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 ISO ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:19853239 PMID:25741868 PMID:28492532 NCBI chr12:3,188,622...3,207,014
Ensembl chr12:3,198,806...3,204,488 		JBrowse link
G XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762 		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 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,282...28,356,646 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr12:3,188,622...3,207,014
Ensembl chr12:3,198,806...3,204,488 		JBrowse link
G CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 3:6,977,195...6,996,024
Ensembl chr 3:6,977,215...6,996,022 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762 		JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 ISO ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,376,325 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 OMIM
ClinVar		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		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 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism
OMIM:236680 | OMIM:614120		 CTD
MouseDO		 PMID:21552264 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560 		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 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560 		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 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25741868 More... NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		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 ISO ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly ClinVar PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 More... NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:point mutations:enhancer:404G>A, 404G>C (human) RGD PMID:19847792 RGD:12801438 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
McKusick-Kaufman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKKS MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome OMIM
ClinVar		 PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 More... NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871 		JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,332...53,397,064 		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 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,415...94,474,335 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 5:94,473,172...94,489,643
Ensembl chr 5:94,473,174...94,489,661 		JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 9:52,270,691...52,302,766
Ensembl chr 9:52,260,508...52,302,638 		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 ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337 		JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME ClinVar PMID:9536098 PMID:16357568 PMID:17576681 PMID:21984976 PMID:22729224 More... NCBI chr 2:59,637,363...59,652,075
Ensembl chr 2:59,637,371...59,652,073 		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 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,808,691...58,828,483
Ensembl chr 2:58,808,692...58,828,489 		JBrowse link
G ARRDC2 arrestin domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,771,104...59,778,500
Ensembl chr 2:59,771,113...59,778,354 		JBrowse link
G BORCS8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,684,508...58,696,586
Ensembl chr 2:58,684,543...58,698,173 		JBrowse link
G CCDC124 coiled-coil domain containing 124 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,821,557...59,831,561
Ensembl chr 2:59,821,561...59,829,403 		JBrowse link
G CCND2 cyclin D2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G COMP cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,061,409...59,068,951
Ensembl chr 2:59,061,426...59,069,564 		JBrowse link
G COPE COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,930,929...58,948,466
Ensembl chr 2:58,930,931...58,948,469 		JBrowse link
G CRLF1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720 		JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,069,334...59,157,196
Ensembl chr 2:59,069,335...59,157,176 		JBrowse link
G DDX49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,922,985...58,930,710
Ensembl chr 2:58,922,988...58,930,716 		JBrowse link
G ELL elongation factor for RNA polymerase II ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,277,164...59,359,986
Ensembl chr 2:59,277,184...59,359,990 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,256,546...59,267,171
Ensembl chr 2:59,253,342...59,267,165 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G GDF15 growth differentiation factor 15 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358 		JBrowse link
G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,913,949...58,922,474
Ensembl chr 2:58,913,992...58,922,474 		JBrowse link
G IFI30 IFI30 lysosomal thiol reductase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,629,762...59,633,714
Ensembl chr 2:59,629,767...59,633,733 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282 		JBrowse link
G INSL3 insulin like 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,929,591...59,931,220
Ensembl chr 2:59,929,584...59,931,219 		JBrowse link
G IQCN IQ motif containing N ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,545,325...59,558,077 JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,363,672...59,367,003
Ensembl chr 2:59,363,716...59,367,002 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,530,991...59,532,846 JBrowse link
G KCNN1 potassium calcium-activated channel subfamily N member 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,780,010...59,814,815
Ensembl chr 2:59,780,013...59,817,059 		JBrowse link
G KLHL26 kelch like family member 26 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,166,118...59,193,948
Ensembl chr 2:59,166,126...59,193,948 		JBrowse link
G KXD1 KxDL motif containing 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,242,301...59,250,893
Ensembl chr 2:59,242,310...59,247,713 		JBrowse link
G LRRC25 leucine rich repeat containing 25 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,401,212...59,405,940
Ensembl chr 2:59,401,246...59,406,959 		JBrowse link
G LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,499,560...59,513,258
Ensembl chr 2:59,499,564...59,513,246 		JBrowse link
G MAST3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,652,900...59,699,372
Ensembl chr 2:59,653,147...59,699,320 		JBrowse link
G MEF2B myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,699,173...58,722,554
Ensembl chr 2:58,695,691...58,722,557 		JBrowse link
G MPV17L2 MPV17 mitochondrial inner membrane protein like 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,609,816...59,613,162
Ensembl chr 2:59,609,821...59,613,161 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130 		JBrowse link
G PDE4C phosphodiesterase 4C ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,567,644...59,598,398
Ensembl chr 2:59,578,261...59,598,396 		JBrowse link
G PGPEP1 pyroglutamyl-peptidase I ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,448,110...59,485,809
Ensembl chr 2:59,451,150...59,485,818 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO 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 chr 2:59,637,363...59,652,075
Ensembl chr 2:59,637,371...59,652,073 		JBrowse link
G RAB3A RAB3A, member RAS oncogene family ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,603,090...59,609,773
Ensembl chr 2:59,603,117...59,609,767 		JBrowse link
G REX1BD required for excision 1-B domain containing ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,234,325...59,237,071
Ensembl chr 2:59,234,320...59,237,020 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
G RPL18A ribosomal protein L18a ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,892,788...59,906,242
Ensembl chr 2:59,890,796...59,897,024 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266 		JBrowse link
G SSBP4 single stranded DNA binding protein 4 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,367,243...59,384,584
Ensembl chr 2:59,367,246...59,384,537 		JBrowse link
G SUGP2 SURP and G-patch domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,828,009...58,865,859
Ensembl chr 2:58,828,251...58,865,852 		JBrowse link
G TMEM161A transmembrane protein 161A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,728,738...58,744,939
Ensembl chr 2:58,728,813...58,744,937 		JBrowse link
G TMEM59L transmembrane protein 59 like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,211,404...59,223,017
Ensembl chr 2:59,210,792...59,223,202 		JBrowse link
G UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:59,238,802...59,241,512
Ensembl chr 2:59,238,906...59,240,274 		JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 2:58,975,013...59,013,546
Ensembl chr 2:58,975,023...59,013,495 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655 		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 ISO 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 chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337 		JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:16,068,544...16,191,277
Ensembl chr10:16,068,542...16,191,137 		JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:15,420,600...15,723,890
Ensembl chr10:15,420,608...15,723,479 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 NCBI chr10:16,191,178...16,441,828
Ensembl chr10:16,191,156...16,441,815 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:17,198,860...17,215,195
Ensembl chr10:17,193,994...17,215,443 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:16,913,022...16,921,722
Ensembl chr10:16,913,025...16,920,586 		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 ISO ClinVar Annotator: match by term: CCND2-related condition | 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 chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		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 ISO ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome OMIM
ClinVar		 PMID:6641002 PMID:9054938 PMID:9148633 PMID:9536098 PMID:10441570 More... NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G RNF32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr18:1,941,176...1,969,852
Ensembl chr18:1,941,182...1,969,225 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		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 ISO ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome ClinVar
OMIM		 PMID:27903915 PMID:28492532 PMID:38141607 NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201 		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 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382 		JBrowse link
G EFCAB7 EF-hand calcium binding domain 7 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 6:148,939,050...148,997,790
Ensembl chr 6:148,851,183...148,994,952 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:10441570 PMID:25741868 PMID:28492532 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G KIAA0825 KIAA0825 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly ClinVar PMID:30982135 NCBI chr 2:100,935,165...101,291,983
Ensembl chr 2:100,934,429...101,194,563 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		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 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:9916796 PMID:16199547 PMID:16611712 PMID:18368028 PMID:25285676 More... NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 8:101,354,891...101,435,417
Ensembl chr 8:101,420,669...101,430,015 		JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 ISO ClinVar Annotator: match by term: Postaxial polydactyly type A ClinVar PMID:25741868 PMID:30395363 NCBI chr 4:42,957,848...42,985,482
Ensembl chr 4:42,957,712...42,985,459 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B OMIM
ClinVar		 PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 More... NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G IQCE IQ motif containing E ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:25741868 PMID:31549751 NCBI chr 3:1,861,487...1,903,107
Ensembl chr 3:1,861,204...1,903,035 		JBrowse link
G KIAA0825 KIAA0825 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:30982135 NCBI chr 2:100,935,165...101,291,983
Ensembl chr 2:100,934,429...101,194,563 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:25741868 NCBI chr  X:10,361,403...10,415,502 JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190 		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 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 OMIM
ClinVar		 PMID:25741868 PMID:30982135 PMID:32147526 NCBI chr 2:100,935,165...101,291,983
Ensembl chr 2:100,934,429...101,194,563 		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 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 OMIM
ClinVar		 PMID:25741868 PMID:28488682 PMID:31549751 NCBI chr 3:1,861,487...1,903,107
Ensembl chr 3:1,861,204...1,903,035 		JBrowse link
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 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 OMIM
ClinVar		 PMID:25741868 PMID:28973407 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421 		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 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 OMIM
ClinVar		 PMID:25741868 PMID:30395363 NCBI chr 4:42,957,848...42,985,482
Ensembl chr 4:42,957,712...42,985,459 		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 ISO ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I OMIM
ClinVar		 PMID:25741868 PMID:30620395 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421 		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 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18463159 PMID:20569257 RGD:12801447 RGD:12801448 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		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 ISO ClinVar Annotator: match by term: Preaxial polydactyly 4 OMIM
ClinVar		 PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:24736735 More... NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G ZIC3 Zic family member 3 ISO RGD PMID:22234993 RGD:12738220 NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 3:111,677,569...111,682,496
Ensembl chr 3:111,678,892...111,682,426 		JBrowse link
G GCKR glucokinase regulator ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 3:111,649,557...111,683,539
Ensembl chr 3:111,649,539...111,676,772 		JBrowse link
G IFT172 intraflagellar transport 172 ISO 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 Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 ISO 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 3:111,718,581...111,720,245
Ensembl chr 3:111,718,584...111,720,207 		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 ISO ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19610081 PMID:24183449 More... NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO 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 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25251415 PMID:25361962 More... NCBI chr 2:126,840,262...126,930,117
Ensembl chr 2:126,840,266...126,930,483 		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 ISO ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly OMIM
ClinVar		 PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,504,638...187,642,492 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly ClinVar PMID:11138003 PMID:17228349 PMID:17976197 PMID:19111681 PMID:20521169 More... NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly OMIM
ClinVar		 PMID:8960501 PMID:9536098 PMID:11138003 PMID:17228349 PMID:17576681 More... NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 More... NCBI chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674 		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 PCYT1A phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26044572 PMID:27021811 PMID:28492532 NCBI chr13:133,774,548...133,798,920
Ensembl chr13:133,774,574...133,800,038 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly OMIM
ClinVar		 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr14:31,425,548...31,615,003
Ensembl chr14:31,425,658...31,615,000 		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 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650 		JBrowse link
G WDR35 WD repeat domain 35 ISO 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 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		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 ortholog ISO 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 chr12:50,737,158...50,793,187
Ensembl chr12:50,742,773...50,898,331 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr14:20,621,960...20,642,351
Ensembl chr14:20,621,981...20,682,240 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO 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 chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO 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 8:4,808,622...4,891,236
Ensembl chr 8:4,810,093...4,891,165 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO 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 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644 		JBrowse link
G FUZ fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chr 6:54,823,680...54,830,425
Ensembl chr 6:54,823,668...54,829,506 		JBrowse link
G IFT172 intraflagellar transport 172 ISO 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 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 1:196,084,498...196,173,880
Ensembl chr 1:196,086,072...196,173,880 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: NEK1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar
OMIM		 PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		JBrowse link
G PALLD palladin, cytoskeletal associated protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr14:20,678,456...21,020,125
Ensembl chr14:20,678,452...21,020,125 		JBrowse link
G SH3RF1 SH3 domain containing ring finger 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr14:20,420,618...20,559,273
Ensembl chr14:20,420,618...20,559,271 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 More... NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO 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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		JBrowse link
G WDR35 WD repeat domain 35 ISO 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 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		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 MATN3 matrilin 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly OMIM
ClinVar		 PMID:17935248 PMID:21473986 PMID:22486404 PMID:25741868 PMID:25908617 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		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 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly OMIM
ClinVar		 PMID:9068549 PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 More... NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968 		JBrowse link
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 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978 		JBrowse link
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538 		JBrowse link
G AMDHD2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500 		JBrowse link
G ANTKMT adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,057,727...41,059,309
Ensembl chr 3:41,057,649...41,062,032 		JBrowse link
G ARHGDIG Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,397,640...41,402,095
Ensembl chr 3:41,397,643...41,400,241 		JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,532,707...39,538,704 JBrowse link
G AXIN1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,344,908...41,393,999
Ensembl chr 3:41,337,071...41,393,997 		JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,536,557...40,550,508
Ensembl chr 3:40,537,399...40,550,471 		JBrowse link
G BICDL2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,153,521...39,161,415
Ensembl chr 3:39,153,552...39,161,442 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466 		JBrowse link
G C1QTNF8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,748,457...40,749,884
Ensembl chr 3:40,748,457...40,749,884 		JBrowse link
G C3H16orf90 chromosome 3 C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,753,455...38,761,881 JBrowse link
G C3H16orf96 chromosome 3 C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,765,914...37,801,366 JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177 		JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,190,626...41,208,657
Ensembl chr 3:41,190,830...41,208,653 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009 		JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,420,339...40,429,787
Ensembl chr 3:40,422,892...40,429,844 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734 		JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079 		JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,710...37,839,009 		JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,000,688...41,009,588
Ensembl chr 3:41,000,690...41,009,589 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,042,672...41,050,013
Ensembl chr 3:41,042,702...41,050,012 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,399,639...40,420,957 		JBrowse link
G CLDN6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,168,506...39,172,631
Ensembl chr 3:39,167,853...39,172,628 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354 		JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,431...38,753,748 		JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,257,677...40,308,034
Ensembl chr 3:40,257,685...40,308,089 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G DECR2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,291,038...41,304,044
Ensembl chr 3:41,295,648...41,304,032 		JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,652,535...37,665,497
Ensembl chr 3:37,652,539...37,665,474 		JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,883,233...37,919,141
Ensembl chr 3:37,883,244...37,919,324 		JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516 		JBrowse link
G ELOB elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,294,099...39,298,192
Ensembl chr 3:39,293,746...39,298,097 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,190,545...40,193,994
Ensembl chr 3:40,186,846...40,193,957 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr14:121,538,308...121,539,037
Ensembl chr 3:40,141,132...40,141,806 		JBrowse link
G FAM234A family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,411,786...41,437,249
Ensembl chr 3:41,410,818...41,437,203 		JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,071,783...41,083,653
Ensembl chr 3:41,071,823...41,083,644 		JBrowse link
G FLYWCH1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,223,885...39,244,743
Ensembl chr 3:39,225,365...39,242,675 		JBrowse link
G FLYWCH2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,251,487...39,261,937
Ensembl chr 3:39,251,491...39,255,803 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991 		JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,078...38,009,024 		JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,997,556...41,000,718
Ensembl chr 3:40,998,504...41,000,905 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,512,093...40,534,217
Ensembl chr 3:40,512,088...40,534,187 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,139,099...40,162,921 JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,050,047...41,053,797
Ensembl chr 3:41,046,171...41,053,464 		JBrowse link
G HCFC1R1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,164,375...39,166,051
Ensembl chr 3:39,164,375...39,166,049 		JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,439...37,868,128 		JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,029,927...40,038,803
Ensembl chr 3:40,032,464...40,038,870 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,090,787...41,093,620
Ensembl chr 3:41,090,788...41,093,614 		JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,245,473...40,256,960
Ensembl chr 3:40,244,011...40,256,980 		JBrowse link
G KCTD5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,403,985...39,429,608
Ensembl chr 3:39,403,987...39,429,588 		JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,214,251...39,218,805
Ensembl chr 3:39,214,248...39,218,776 		JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,835,413...40,934,253 		JBrowse link
G LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151 		JBrowse link
G LOC100516428 olfactory receptor 2C1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,831,184...38,834,678
Ensembl chr 3:38,832,911...38,833,849 		JBrowse link
G LOC100516963 olfactory receptor 1361 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,999,900...39,007,156
Ensembl chr 3:39,001,044...39,001,988 		JBrowse link
G LOC100517149 zinc finger protein 75A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,867,998...38,893,678
Ensembl chr 3:38,825,782...38,893,681 		JBrowse link
G LOC100524016 mesothelin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,025,892...41,029,302 JBrowse link
G LOC110256121 serine protease 33-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr12:60,158,818...60,162,073 JBrowse link
G LUC7L LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,442,127...41,473,115
Ensembl chr 3:41,449,002...41,470,977 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,196,873...40,241,453
Ensembl chr 3:40,196,875...40,241,291 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,123,037...41,133,463
Ensembl chr 3:41,123,048...41,127,917 		JBrowse link
G MCT7 tryptase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,616,642...40,619,148 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,092,689...40,133,173
Ensembl chr 3:40,092,732...40,133,171 		JBrowse link
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,053,722...41,064,315
Ensembl chr 3:41,061,225...41,064,391 		JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,134,246...41,135,880
Ensembl chr 3:41,134,246...41,141,353 		JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285 		JBrowse link
G MMP25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,129,452...39,143,621
Ensembl chr 3:39,130,777...39,142,303 		JBrowse link
G MRPL28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,330,412...41,333,520
Ensembl chr 3:41,329,928...41,334,451 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,194,078...40,195,316
Ensembl chr 3:40,193,033...40,195,018 		JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,017,161...40,021,736
Ensembl chr 3:40,017,194...40,028,047 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,763,444...38,812,862
Ensembl chr 3:38,763,447...38,781,988 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588 		JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,942,366...39,952,824
Ensembl chr 3:39,942,367...39,952,825 		JBrowse link
G NLRC3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,673,590...38,719,188
Ensembl chr 3:38,687,967...38,710,938 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,195,456...40,197,121
Ensembl chr 3:40,195,635...40,196,869 		JBrowse link
G NME4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,306,167...41,321,002
Ensembl chr 3:41,306,175...41,310,312 		JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,871,995...37,881,113 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,987,340...39,989,640
Ensembl chr 3:39,987,384...39,989,548 		JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,957,042...39,957,792
Ensembl chr 3:39,957,042...39,957,792 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,935,619...39,941,718
Ensembl chr 3:39,935,475...39,941,712 		JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,572,430...39,575,717
Ensembl chr 3:39,572,531...39,575,170 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,178,417...40,184,646
Ensembl chr 3:40,178,417...40,186,551 		JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,693,652 		JBrowse link
G PAQR4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,206,077...39,213,324 JBrowse link
G PDIA2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,394,267...41,397,547
Ensembl chr 3:41,394,058...41,397,687 		JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,429,928...39,512,623
Ensembl chr 3:39,432,058...39,512,601 		JBrowse link
G PGAP6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,318,569...41,330,430
Ensembl chr 3:41,318,889...41,330,273 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,164,399...41,177,453
Ensembl chr 3:41,160,657...41,176,318 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,201,819...39,209,261
Ensembl chr 3:39,201,878...39,210,125 		JBrowse link
G PRR35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,180,809...41,187,916
Ensembl chr 3:41,180,800...41,185,921 		JBrowse link
G PRSS21 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,318,134...39,322,775
Ensembl chr 3:39,317,717...39,323,150 		JBrowse link
G PRSS22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,365,798...39,376,909
Ensembl chr 3:39,365,803...39,380,476 		JBrowse link
G PRSS27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,395,014...39,399,971
Ensembl chr 3:39,395,274...39,399,970 		JBrowse link
G PRSS33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,301,919...39,304,996
Ensembl chr 3:39,302,369...39,307,433 		JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,383,325...40,391,567
Ensembl chr 3:40,382,667...40,390,812 		JBrowse link
G RAB11FIP3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,211,683...41,284,998
Ensembl chr 3:41,211,684...41,285,502 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,140,557...41,160,101
Ensembl chr 3:41,140,561...41,160,077 		JBrowse link
G RGS11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,402,345...41,410,813
Ensembl chr 3:41,402,316...41,410,868 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,096,881...41,099,582
Ensembl chr 3:41,096,884...41,099,587 		JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,100,876...41,106,370
Ensembl chr 3:41,100,879...41,106,418 		JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,997,651...40,000,782
Ensembl chr 3:39,997,647...39,999,748 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,750,005 		JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112 		JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699 		JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,996,179...40,003,110
Ensembl chr 3:40,001,326...40,003,107 		JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,009,722...41,013,013
Ensembl chr 3:41,009,717...41,013,018 		JBrowse link
G SEPT12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,716...37,627,196 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168 		JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,599,574...37,601,316
Ensembl chr 3:37,599,576...37,601,086 		JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,825,151...40,830,085
Ensembl chr 3:40,825,157...40,830,736 		JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:40,184,534...40,190,519
Ensembl chr 3:40,185,014...40,190,518 		JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932 		JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,275,274...39,293,741
Ensembl chr 3:39,275,288...39,293,747 		JBrowse link
G SSTR5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,756,465...40,758,111
Ensembl chr 3:40,756,457...40,762,895 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136 		JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,975,067...39,981,537
Ensembl chr 3:39,975,069...39,979,217 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,989,739...39,996,138
Ensembl chr 3:39,989,740...39,995,123 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,580,181...39,584,414
Ensembl chr 3:39,580,199...39,584,380 		JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,372,215...40,386,777
Ensembl chr 3:40,362,208...40,383,279 		JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,050,308...38,060,817 		JBrowse link
G THOC6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,161,442...39,164,631
Ensembl chr 3:39,161,434...39,164,707 		JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,342,957...40,355,887
Ensembl chr 3:40,342,961...40,355,726 		JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,166,288...39,168,294
Ensembl chr 3:39,166,298...39,168,302 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,534,222...40,536,773
Ensembl chr 3:40,534,222...40,536,766 		JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,556,556...40,586,382 JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,444,997...40,513,050
Ensembl chr 3:40,445,034...40,513,047 		JBrowse link
G UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:40,439,419...40,441,209
Ensembl chr 3:40,440,051...40,441,281 		JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,432...37,972,114 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,085,415...41,090,628
Ensembl chr 3:41,085,463...41,090,610 		JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,106,735...41,122,324
Ensembl chr 3:41,106,720...41,122,426 		JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 3:41,136,200...41,139,986
Ensembl chr 3:41,136,202...41,138,785 		JBrowse link
G ZG16B zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,334,122...39,336,864 JBrowse link
G ZNF174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,805,861...38,815,166
Ensembl chr 3:38,805,020...38,815,171 		JBrowse link
G ZNF200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,952,692...38,973,927
Ensembl chr 3:38,952,689...38,973,906 		JBrowse link
G ZNF205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,091,439...39,105,633
Ensembl chr 3:39,091,443...39,106,615 		JBrowse link
G ZNF213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,073,673...39,088,789
Ensembl chr 3:39,073,677...39,079,365 		JBrowse link
G ZNF263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,906,153...38,952,663
Ensembl chr 3:38,906,162...38,913,851 		JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:37,642,424...37,652,378 JBrowse link
G ZNF597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:38,788,447...38,798,609 JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,962,896...39,972,659
Ensembl chr 3:39,962,988...39,972,656 		JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 3:39,113,307...39,119,033
Ensembl chr 3:39,113,402...39,118,779 		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 ISO ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26755636 PMID:28492532 PMID:30237576 PMID:31130284 NCBI chr15:79,174,444...79,378,520
Ensembl chr15:79,173,033...79,380,993 		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 ISO ClinVar Annotator: match by term: Syndactyly type 4 OMIM
ClinVar		 PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15278
    physical disorder 4848
      polydactyly 361
        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 + 7
        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 1
        Meckel syndrome 13 1
        Meckel syndrome 4 3
        Meckel-Like Cerebrorenodigital Syndrome 0
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 54
        Mexican Cardiomelic Dysplasia 0
        Pallister-Hall syndrome + 2
        Pfeiffer Mayer Syndrome 0
        Polydactyly Myopia Syndrome 0
        Postaxial Polydactyly + 16
        Preaxial Polydactyly + 8
        Pseudotrisomy 13 Syndrome 0
        Santos Mateus Leal Syndrome 0
        Santos Syndrome 0
        Split-Foot Malformation with Mesoaxial Polydactyly 1
        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 + 230
        holoprosencephaly 9 1
        hydrolethalus syndrome + 3
        hypoplastic or aplastic tibia with polydactyly 2
        syndactyly type 4 2
Path 2
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  disease 15278
    Developmental Disease 13225
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12300
        Congenital Abnormalities 7339
          Musculoskeletal Abnormalities 3236
            Congenital Limb Deformities 1004
              polydactyly 361
                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 + 7
                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 1
                Meckel syndrome 13 1
                Meckel syndrome 4 3
                Meckel-Like Cerebrorenodigital Syndrome 0
                Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 54
                Mexican Cardiomelic Dysplasia 0
                Pallister-Hall syndrome + 2
                Pfeiffer Mayer Syndrome 0
                Polydactyly Myopia Syndrome 0
                Postaxial Polydactyly + 16
                Preaxial Polydactyly + 8
                Pseudotrisomy 13 Syndrome 0
                Santos Mateus Leal Syndrome 0
                Santos Syndrome 0
                Split-Foot Malformation with Mesoaxial Polydactyly 1
                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 + 230
                holoprosencephaly 9 1
                hydrolethalus syndrome + 3
                hypoplastic or aplastic tibia with polydactyly 2
                syndactyly type 4 2
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