|
G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,117,222...84,125,939
|
|
G |
Alx4 |
ALX homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9847249 |
|
NCBI chr 3:79,611,682...79,648,260
|
|
G |
Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,688,194...76,695,162
|
|
G |
Asic4 |
acid sensing ion channel subunit family member 4 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,389,610...84,411,545
|
|
G |
Atg9a |
autophagy related 9A |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,677,403...76,688,050
|
|
G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:20104584 PMID:25236687 PMID:25741868 PMID:26295337 PMID:26467025 PMID:28281021 PMID:28492532 PMID:29446198 PMID:30630528 PMID:34196900 More...
|
|
NCBI chr12:4,895,092...4,939,340
|
|
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 chr14:71,563,835...71,648,352
|
|
G |
Chpf |
chondroitin polymerizing factor |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,963,178...76,967,878
|
|
G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
|
ISS |
OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 |
MouseDO |
|
|
NCBI chr 5:25,613,993...25,632,440
|
|
G |
Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,633,475...76,640,164
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,299,626...84,307,344
|
|
G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,731,060...76,739,278
|
|
G |
Dnpep |
aspartyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,799,931...76,808,841
|
|
G |
Etv2 |
ETS variant transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:33359164 |
|
NCBI chr 1:85,890,562...85,894,025
|
|
G |
Glb1l |
galactosidase, beta 1-like |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,693,325...76,705,548
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) DNA:insertion |
CTD ClinVar RGD |
PMID:10441570 PMID:17688467 PMID:25741868 PMID:28492532 PMID:14597572 PMID:25267529 PMID:17266131 PMID:10051311 More...
|
RGD:12801421, RGD:12738225, RGD:12738144, RGD:12738140 |
NCBI chr17:54,134,064...54,405,198
|
|
G |
Gmppa |
GDP-mannose pyrophosphorylase A |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,926,724...76,934,274
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar RGD |
PMID:22233338 PMID:25741868 PMID:17266131 |
RGD:12738144 |
NCBI chr 3:59,570,647...59,573,963
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
|
NCBI chr 2:155,455,773...155,550,082
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12701101 |
|
NCBI chr15:31,573,325...31,666,068
|
|
G |
Inha |
inhibin subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,443,109...84,446,010
|
|
G |
Kiaa0586 |
KIAA0586 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15554946 |
|
NCBI chr 6:95,358,682...95,461,911
|
|
G |
Kif3a |
kinesin family member 3a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17698054 |
|
NCBI chr10:38,226,388...38,263,062
|
|
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 1:80,902,236...80,951,614
|
|
G |
Mipol1 |
mirror-image polydactyly 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11954550 |
|
NCBI chr 6:74,755,293...75,090,403
|
|
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 PMID:26490104 PMID:27570071 PMID:28492532 PMID:28497568 PMID:34008892 More...
|
|
NCBI chr10:73,152,599...73,167,451
|
|
G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,526,322...76,622,488
|
|
G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,967,802...76,993,771
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17427195 |
|
NCBI chr 1:240,043,707...240,110,330
|
|
G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,741,010...76,756,704
|
|
G |
Resp18 |
regulated endocrine-specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,765,179...76,771,824
|
|
G |
Retreg2 |
reticulophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,640,282...76,646,400
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:point mutation:enhancer:g.106954C>T (human) |
RGD |
PMID:14597572 PMID:22903933 PMID:10021368 |
RGD:12801421, RGD:12801449, RGD:12801429 |
NCBI chr 4:6,954,017...6,963,170
|
|
G |
Slc23a3 |
solute carrier family 23, member 3 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,071,286...84,081,951
|
|
G |
Slc4a3 |
solute carrier family 4 member 3 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:77,036,243...77,053,940
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:28492532 PMID:34953066 |
|
NCBI chr 8:73,345,457...73,414,985
|
|
G |
Speg |
striated muscle enriched protein kinase |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,314,387...84,371,816
|
|
G |
Stk11ip |
serine/threonine kinase 11 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:77,012,297...77,027,989
|
|
G |
Stk16 |
serine/threonine kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,154,285...84,157,521
|
|
G |
Tmem198 |
transmembrane protein 198 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:76,968,079...76,974,131
|
|
G |
Tuba4a |
tubulin, alpha 4A |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,158,871...84,174,041
|
|
G |
Tubd1 |
tubulin, delta 1 |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr10:71,865,446...71,888,731
|
|
G |
Zbtb16 |
zinc finger and BTB domain containing 16 |
|
IAGP |
DNA:deletion:intron (rat) |
RGD |
PMID:19191224 |
RGD:2312786 |
NCBI chr 8:57,885,886...58,073,507
|
|
G |
Zbtb16Lx |
zinc finger and BTB domain containing 16, Lx mutant |
|
IAGP |
|
RGD |
PMID:19191224 |
RGD:2312786 |
|
|
G |
Zfand2b |
zinc finger AN1-type containing 2B |
|
ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
|
|
NCBI chr 9:84,114,170...84,117,115
|
|
|
G |
4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 |
|
NCBI chr10:57,282,433...57,331,259
|
|
G |
B9d1 |
B9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,685,410...46,698,580
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:13,253,697...13,273,672
|
|
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 8:13,285,702...13,313,329
|
|
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 1:164,127,304...164,225,088
|
|
G |
Cep120 |
centrosomal protein 120 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr18:49,326,266...49,388,380
|
|
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 8:5,200,576...5,267,740
|
|
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 8:13,465,016...13,483,679
|
|
G |
Cilk1 |
ciliogenesis associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466187 |
|
NCBI chr 8:87,868,294...87,922,995
|
|
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 PMID:25741868 PMID:28492532 PMID:29620724 More...
|
|
NCBI chr 7:130,977,561...131,006,627
|
|
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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:70,906,587...71,102,596
|
|
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 8:4,412,266...4,433,380
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome DNA:missense mutations:cds:multiple(human) |
CTD ClinVar RGD |
PMID:3442652 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25982780 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27323140 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29096039 PMID:29359448 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30755392 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33452237 PMID:33532864 PMID:33694158 PMID:33726816 PMID:33755199 PMID:33846808 PMID:33875766 PMID:34040173 PMID:34426522 PMID:34529350 PMID:34627339 PMID:34675960 PMID:34740920 PMID:34788402 PMID:34958143 PMID:35277174 PMID:35506549 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36599940 PMID:22499340 More...
|
RGD:11072153 |
NCBI chr 8:12,473,955...12,697,075
|
|
G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr 6:137,133,418...137,189,937
|
|
G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
|
|
NCBI chr 3:13,306,039...13,322,121
|
|
G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 6:15,745,350...15,778,166
|
|
G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr11:68,359,138...68,367,573
|
|
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 PMID:25741868 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr14:77,591,581...77,679,286
|
|
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 PMID:9677066 PMID:10073901 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:18000976 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
|
|
NCBI chr14:81,211,800...81,227,215
|
|
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 chr13:102,586,263...102,608,647
|
|
G |
Fuz |
fuzzy planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
|
NCBI chr 1:95,379,542...95,384,532
|
|
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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:71,150,559...71,187,321
|
|
G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
|
NCBI chr 1:211,010,259...211,031,013
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:31589614 PMID:31964843 PMID:32483926 PMID:34429528 PMID:34890546 PMID:35140360 More...
|
|
NCBI chr10:14,537,134...14,624,926
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 6:30,801,841...30,841,239
|
|
G |
Ift27 |
intraflagellar transport 27 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:24488770 PMID:25446516 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:109,738,622...109,754,416
|
|
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 6:111,460,689...111,537,224
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G |
Ift52 |
intraflagellar transport 52 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
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NCBI chr 3:151,672,505...151,696,975
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G |
Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 5:114,576,106...114,679,581
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301601 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:33957996 More...
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NCBI chr 2:155,455,773...155,550,082
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G |
Ift81 |
intraflagellar transport 81 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:33,957,744...34,037,164
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr15:31,573,325...31,666,068
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G |
Intu |
inturned planar cell polarity protein |
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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 |
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NCBI chr 2:125,528,965...125,613,295
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 6:95,358,682...95,461,911
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G |
Lbr |
lamin B receptor |
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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 |
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NCBI chr13:93,539,386...93,564,026
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,517...31,768,564
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:12,943,453...12,963,966
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:12,974,707...12,982,613
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,581,785...4,591,687
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,745,887...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:12,925,267...12,938,828
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G |
Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:13,133,043...13,140,761
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G |
Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,724,009...4,733,864
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
DNA:missense, frameshift, nonsense mutations:cds,splice junction: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human) |
ClinVar CTD RGD |
PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 PMID:22499340 PMID:21211617 More...
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RGD:11072153, RGD:11069733 |
NCBI chr16:34,009,092...34,137,418
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G |
Rab34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr10:63,581,542...63,585,608
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:71,360,840...71,479,870
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:70,710,862...70,845,569
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:70,554,496...70,666,198
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:71,553,185...71,701,377
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G |
Sltm |
SAFB-like, transcription modulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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NCBI chr 8:71,215,995...71,261,821
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G |
Smarcad1 |
SNF2 related chromatin remodeling ATPase with DExD box 1 |
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ISS |
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MouseDO |
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NCBI chr 4:94,311,441...94,379,184
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:24183451 PMID:28492532 PMID:29068549 |
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NCBI chr 3:13,241,164...13,306,047
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G |
Tmem123 |
transmembrane protein 123 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,922,077...4,952,228
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 |
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NCBI chr 9:99,521,176...99,557,966
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:14,044,216...14,148,808
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome 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 |
CTD ClinVar |
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25741905 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28124483 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:36263627 More...
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NCBI chr 3:71,269,425...71,343,936
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G |
Wdr19 |
WD repeat domain 19 |
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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 PMID:25726036 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 PMID:33875766 More...
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NCBI chr14:43,396,130...43,460,012
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,095,705...5,166,808
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
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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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:70,906,587...71,102,596
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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 PMID:28492532 PMID:29068549 PMID:30755392 PMID:34740920 More...
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NCBI chr 8:12,473,955...12,697,075
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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NCBI chr 6:15,745,350...15,778,166
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G |
Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 PMID:29068549 More...
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NCBI chr14:77,591,581...77,679,286
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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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:71,150,559...71,187,321
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G |
Ift140 |
intraflagellar transport 140 |
|
ISS ISO |
OMIM:208500 ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 More...
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NCBI chr10:14,537,134...14,624,926
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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 6:30,801,841...30,841,239
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G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 More...
|
|
NCBI chr 2:155,455,773...155,550,082
|
|
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 chr13:93,539,386...93,564,026
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|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:34,009,092...34,137,418
|
|
G |
Rab34 |
RAB34, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
|
NCBI chr10:63,581,542...63,585,608
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|
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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:71,360,840...71,479,870
|
|
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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:70,710,862...70,845,569
|
|
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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:70,554,496...70,666,198
|
|
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 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:71,553,185...71,701,377
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chr 3:71,269,425...71,343,936
|
|
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 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 More...
|
|
NCBI chr14:43,396,130...43,460,012
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|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO ISS |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM:611263 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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|
NCBI chr 2:155,455,773...155,550,082
|
|
|
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 chr 1:192,533,460...192,557,281
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:135,436,375...135,502,117
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO ISS |
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:613091 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3442652 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30755392 PMID:30773290 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34426522 PMID:34529350 PMID:34627339 PMID:34740920 PMID:34788402 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 More...
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|
NCBI chr 8:12,473,955...12,697,075
|
|
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 chr 6:137,133,418...137,189,937
|
|
G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:29068549 |
|
NCBI chr 3:13,306,039...13,322,121
|
|
G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr11:68,359,138...68,367,573
|
|
G |
Fam98c |
family with sequence similarity 98, member C |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
|
|
NCBI chr 1:84,452,806...84,456,414
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISS |
OMIM:613091 |
MouseDO |
|
|
NCBI chr 2:155,455,773...155,550,082
|
|
G |
Kif24 |
kinesin family member 24 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
|
|
NCBI chr 5:56,561,019...56,628,040
|
|
G |
Nek1 |
NIMA-related kinase 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:21211617 PMID:25741868 |
|
NCBI chr16:34,009,092...34,137,418
|
|
G |
Otoa |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I |
ClinVar |
PMID:11972037 PMID:19442771 PMID:23456818 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:175,642,978...175,710,528
|
|
G |
Tmem256 |
transmembrane protein 256 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
|
|
NCBI chr10:54,559,030...54,560,146
|
|
|
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 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 PMID:36263627 More...
|
|
NCBI chr 3:71,269,425...71,343,936
|
|
|
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 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29121203 PMID:29620724 PMID:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31216405 PMID:31725169 PMID:31837199 PMID:31964843 PMID:32037395 PMID:32055034 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:33875766 PMID:34295353 PMID:34529350 PMID:34906470 PMID:36227438 PMID:36909829 More...
|
|
NCBI chr14:43,396,130...43,460,012
|
|
|
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 8:12,473,955...12,697,075
|
|
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 PMID:29068549 More...
|
|
NCBI chr14:77,591,581...77,679,286
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:28492532 PMID:29068549 |
|
NCBI chr 2:155,455,773...155,550,082
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
|
NCBI chr16:34,009,092...34,137,418
|
|
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 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:71,269,425...71,343,936
|
|
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 PMID:27241786 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr14:43,396,130...43,460,012
|
|
|
G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia |
ClinVar |
PMID:20661588 |
|
NCBI chr12:11,009,236...11,015,941
|
|
|
G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
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|
NCBI chr 1:80,829,935...80,838,388
|
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) |
RGD |
PMID:16874813 |
RGD:12738209 |
NCBI chr17:54,134,064...54,405,198
|
|
|
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 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26334177 PMID:28492532 PMID:30629636 PMID:31292255 PMID:33057194 More...
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|
NCBI chr13:29,946,882...30,163,589
|
|
|
G |
Cant1 |
calcium activated nucleotidase 1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION OMIM:251450 | OMIM:615777 |
CTD ClinVar MouseDO |
PMID:19853239 PMID:25741868 PMID:28492532 |
|
NCBI chr10:103,637,079...103,650,240
|
|
G |
Xylt1 |
xylosyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION |
CTD ClinVar |
PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 |
|
NCBI chr 1:171,643,925...171,929,774
|
|
|
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 chr10:1,022,041...1,162,431
|
|
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 1:105,583,681...105,637,895
|
|
G |
Cant1 |
calcium activated nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: CANT1-related condition | ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25486376 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31587486 PMID:31988067 PMID:32907608 PMID:34270679 More...
|
|
NCBI chr10:103,637,079...103,650,240
|
|
G |
Cep20 |
centrosomal protein 20 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
|
NCBI chr10:1,221,294...1,243,144
|
|
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 chr10:1,250,554...1,345,681
|
|
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 chr10:1,347,010...1,391,167
|
|
G |
Nomo1 |
Nodal modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
|
NCBI chr 1:96,505,460...96,556,280
|
|
G |
Xylt1 |
xylosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28085539 PMID:28229453 PMID:28462984 PMID:28492532 PMID:30554721 PMID:31785789 More...
|
|
NCBI chr 1:171,643,925...171,929,774
|
|
|
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 PMID:26601923 PMID:28462984 PMID:28492532 PMID:30554721 More...
|
|
NCBI chr 1:171,643,925...171,929,774
|
|
|
G |
Hoxa13 |
homeo box A13 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome | ClinVar Annotator: match by term: HOXA13-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24239177 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:81,358,956...81,361,091
|
|
|
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 PMID:15994174 PMID:16199547 PMID:16327884 PMID:17096318 PMID:17569090 PMID:17576681 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26334177 PMID:26893459 PMID:28166811 PMID:28191889 PMID:28492532 PMID:29095814 PMID:29165578 PMID:29876959 PMID:30548673 PMID:33729509 PMID:34198905 PMID:34906515 PMID:34921505 More...
|
|
NCBI chr13:29,946,882...30,163,589
|
|
|
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 PMID:28492532 More...
|
|
NCBI chr 8:42,170,505...42,179,573
|
|
G |
Kif7 |
kinesin family member 7 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:21552264 |
|
NCBI chr 1:143,041,206...143,067,873
|
|
G |
Pus3 |
pseudouridine synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Hydrolethalus syndrome |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 8:33,910,461...33,918,716
|
|
|
G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrolethalus syndrome 1 |
OMIM CTD ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 8:42,170,505...42,179,573
|
|
G |
Kif7 |
kinesin family member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:143,041,206...143,067,873
|
|
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 PMID:28492532 More...
|
|
NCBI chr 8:33,910,461...33,918,716
|
|
|
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 PMID:26648833 PMID:28492532 More...
|
|
NCBI chr 1:143,041,206...143,067,873
|
|
|
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 PMID:24777739 PMID:24965254 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 More...
|
|
NCBI chr 4:5,974,687...6,146,348
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:point mutations:enhancer:404G>A, 404G>C (human) |
RGD |
PMID:19847792 |
RGD:12801438 |
NCBI chr 4:6,954,017...6,963,170
|
|
|
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3196484 PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21157496 PMID:21209035 PMID:22446187 PMID:22500027 PMID:22773737 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28753627 PMID:28761321 PMID:29127258 PMID:29588463 PMID:30504698 PMID:30586318 PMID:30614526 PMID:30718709 PMID:31028937 PMID:33138063 PMID:33520300 PMID:34262361 PMID:34448047 PMID:35112343 PMID:35835773 More...
|
|
NCBI chr 3:144,654,563...144,672,831
|
|
|
G |
Tmem107 |
transmembrane protein 107 |
|
ISO |
ClinVar Annotator: match by term: Meckel syndrome 13 |
OMIM ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
|
NCBI chr10:54,268,218...54,273,520
|
|
|
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 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:frameshift mutation:exon:c.5489del (human) |
OMIM ClinVar CTD RGD |
PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19823873 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21228398 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23661368 PMID:23847139 PMID:23954617 PMID:24223178 PMID:24265693 PMID:24474277 PMID:24767827 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25937446 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27894351 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28619647 PMID:28660274 PMID:28714225 PMID:28771248 PMID:28829391 PMID:28912962 PMID:28914264 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29518907 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30478281 PMID:30559420 PMID:30576320 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31069529 PMID:31087526 PMID:31091803 PMID:31345219 PMID:31370859 PMID:31411728 PMID:31429209 PMID:31589614 PMID:31623504 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31877679 PMID:31879347 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32483926 PMID:32531858 PMID:32579692 PMID:32581362 PMID:32600475 PMID:32856788 PMID:32864857 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33749171 PMID:33886416 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196201 PMID:34196655 PMID:34327195 PMID:34426522 PMID:34582790 PMID:34691137 PMID:34716235 PMID:34758253 PMID:34795310 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35627109 PMID:35764379 PMID:35836572 PMID:36369640 PMID:36460718 PMID:36493848 PMID:36537646 PMID:36729443 PMID:36819107 PMID:36909829 PMID:36990420 PMID:37008293 PMID:37510321 PMID:38709228 PMID:17564974 PMID:17705300 More...
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RGD:11063677, RGD:11070805 |
NCBI chr 7:37,196,765...37,285,955
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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 PMID:29588463 PMID:30193310 PMID:31589614 PMID:34196655 More...
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NCBI chr 7:37,284,545...37,295,858
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G |
Tmem218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:45,113,368...45,128,739
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome |
OMIM ClinVar |
PMID:25741868 PMID:30573562 PMID:37710961 |
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NCBI chr 6:41,446,683...41,452,584
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr13:91,475,839...91,758,060
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G |
Ccnd2 |
cyclin D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705253 PMID:29642246 |
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NCBI chr 4:161,653,048...161,675,422
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr 2:117,103,643...117,177,411
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism 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 |
CTD ClinVar |
PMID:9536098 PMID:16357568 PMID:17576681 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
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NCBI chr16:18,699,389...18,708,045
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G |
Armc6 |
armadillo repeat containing 6 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,191,106...19,201,528
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G |
Arrdc2 |
arrestin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,601,897...18,606,029
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G |
Borcs8 |
BLOC-1 related complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,274,305...19,280,969
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G |
Ccdc124 |
coiled-coil domain containing 124 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,566,745...18,572,564
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G |
Ccnd2 |
cyclin D2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:161,653,048...161,675,422
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G |
Cers1 |
ceramide synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,131,271...19,146,480
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|
G |
Comp |
cartilage oligomeric matrix protein |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,047,206...19,055,584
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G |
Cope |
COPI coat complex subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,148,832...19,159,052
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|
G |
Crlf1 |
cytokine receptor-like factor 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,924,722...18,936,049
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|
G |
Crtc1 |
CREB regulated transcription coactivator 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,988,197...19,046,914
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|
G |
Ddx49 |
DEAD-box helicase 49 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,125,388...19,133,042
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|
G |
Ell |
elongation factor for RNA polymerase II |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,877,751...18,925,449
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|
G |
Fkbp8 |
FKBP prolyl isomerase 8 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,929,581...18,936,621
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|
G |
Gdf1 |
growth differentiation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,131,271...19,146,480
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|
G |
Gdf15 |
growth differentiation factor 15 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,838,436...18,842,022
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|
G |
Homer3 |
homer scaffold protein 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,132,177...19,142,739
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|
G |
Ifi30 |
IFI30, lysosomal thiol reductase |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,675,590...18,679,655
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|
G |
Il12rb1 |
interleukin 12 receptor subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,620,228...18,633,207
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|
G |
Insl3 |
insulin-like 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,398,682...18,400,566
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|
G |
Iqcn |
IQ motif containing N |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,716,519...18,733,971
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|
G |
Isyna1 |
inositol-3-phosphate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,873,119...18,876,116
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|
G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,418,807...18,432,515
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|
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 chr16:18,734,121...18,735,799
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|
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 chr16:18,574,858...18,598,585
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G |
Klhl26 |
kelch-like family member 26 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,952,123...18,977,328
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|
G |
Kxd1 |
KxDL motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,895,343...18,916,266
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|
G |
Lrrc25 |
leucine rich repeat containing 25 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,806,888...18,813,723
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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 |
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NCBI chr16:18,755,481...18,761,106
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G |
Mast3 |
microtubule associated serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,670,742...18,699,252
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G |
Mef2b |
myocyte enhancer factor 2B |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,286,951...19,305,547
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|
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 chr16:18,680,106...18,684,212
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|
G |
Nr2c2ap |
nuclear receptor 2C2-associated protein |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,288,454...19,290,940
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|
G |
Pde4c |
phosphodiesterase 4C |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,690,727...18,711,555
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|
G |
Pgpep1 |
pyroglutamyl-peptidase I |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,770,563...18,782,968
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|
G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | ClinVar Annotator: match by term: PIK3R2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 PMID:22729224 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 PMID:34170046 More...
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|
NCBI chr16:18,699,389...18,708,045
|
|
G |
Rab3a |
RAB3A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,718,164...18,722,273
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|
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 chr16:18,922,050...18,924,521
|
|
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 chr16:19,280,857...19,288,886
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|
G |
Rpl18a |
ribosomal protein L18A |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,576,467...18,578,653
|
|
G |
Slc25a42 |
solute carrier family 25, member 42 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,247,874...19,286,598
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|
G |
Slc5a5 |
solute carrier family 5 member 5 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,546,709...18,556,698
|
|
G |
Ssbp4 |
single stranded DNA binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,862,007...18,872,917
|
|
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 chr16:19,159,951...19,191,412
|
|
G |
Tmem161a |
transmembrane protein 161A |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,237,638...19,248,151
|
|
G |
Tmem59l |
transmembrane protein 59-like |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:18,941,370...18,945,381
|
|
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 chr16:18,952,583...18,954,780
|
|
G |
Upf1 |
UPF1, RNA helicase and ATPase |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,076,594...19,097,365
|
|
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 chr 3:29,214,581...29,344,890
|
|
|
G |
Adss2 |
adenylosuccinate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:89,769,240...89,799,577
|
|
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 PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:25416470 PMID:25523067 PMID:25741868 PMID:28086757 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:31471318 PMID:33176815 PMID:34170046 More...
|
|
NCBI chr13:91,475,839...91,758,060
|
|
G |
Catspere |
catsper channel auxiliary subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:89,799,669...89,954,723
|
|
G |
Cep170 |
centrosomal protein 170 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 PMID:28492532 |
|
NCBI chr13:88,669,672...88,754,011
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G |
Chml |
CHM like Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:90,141,880...90,152,097
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G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:92,592,260...92,604,129
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G |
Desi2 |
desumoylating isopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:89,961,767...90,011,255
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G |
Exo1 |
exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:90,341,947...90,366,861
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G |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:90,056,565...90,082,450
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:92,609,791...92,618,580
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G |
Kmo |
kynurenine 3-monooxygenase |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:90,089,340...90,121,108
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G |
Opn3 |
opsin 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:87,589,333...87,619,847
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G |
Pld5 |
phospholipase D family, member 5 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 PMID:28492532 |
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NCBI chr13:87,895,694...88,232,868
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 |
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NCBI chr13:88,754,521...88,979,363
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G |
Spmip3 |
sperm microtubule inner protein 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 PMID:28492532 |
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NCBI chr13:89,740,464...89,771,505
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G |
Wdr64 |
WD repeat domain 64 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:87,624,588...87,746,749
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 PMID:28492532 |
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NCBI chr13:89,439,501...89,447,958
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G |
Ccnd2 |
cyclin D2 |
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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 PMID:31056854 PMID:33818783 More...
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NCBI chr 4:161,653,048...161,675,422
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO ISS |
DNA:frameshift deletions ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome OMIM:146510 DNA:mutations:exon, intron:multiple DNA:deletions CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:6641002 PMID:9054938 PMID:9148633 PMID:9536098 PMID:10441342 PMID:10441570 PMID:10945658 PMID:12545275 PMID:12794692 PMID:15739154 PMID:15811011 PMID:17576681 PMID:18000979 PMID:21532573 PMID:22903559 PMID:24736735 PMID:25741868 PMID:26508445 PMID:28492532 PMID:30773290 PMID:34482537 PMID:34906502 PMID:9054938 PMID:15739154 PMID:24736735 PMID:11978771 More...
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RGD:1599838, RGD:12738222, RGD:12738205, RGD:12738143 |
NCBI chr17:54,134,064...54,405,198
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
OMIM ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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NCBI chr 4:5,974,687...6,146,348
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G |
Rnf32 |
ring finger protein 32 |
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ISO |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 4:6,144,749...6,209,320
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
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G |
Max |
MYC associated factor X |
susceptibility |
ISO |
ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome |
ClinVar OMIM |
PMID:27903915 PMID:28492532 PMID:38141607 |
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NCBI chr 6:101,369,989...101,395,333
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G |
Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr14:98,029,018...98,124,181
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G |
Efcab7 |
EF-hand calcium binding domain 7 |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:119,640,841...119,691,566
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:10441570 PMID:25741868 PMID:28492532 |
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NCBI chr17:54,134,064...54,405,198
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly |
ClinVar |
PMID:30982135 |
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NCBI chr 2:6,874,474...7,437,032
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr17:1,548,449...1,613,461
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G |
Atp6v1b1 |
ATPase H+ transporting V1 subunit B1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:9916796 PMID:16199547 PMID:16611712 PMID:18368028 PMID:25285676 PMID:25741868 PMID:28492532 PMID:31549751 PMID:31733597 More...
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NCBI chr 4:117,781,444...117,800,103
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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 |
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NCBI chr 2:120,203,396...120,221,024
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G |
Ccnd2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29642246 |
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NCBI chr 4:161,653,048...161,675,422
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Postaxial polydactyly type A |
CTD ClinVar |
PMID:25741868 PMID:30395363 |
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NCBI chr 5:25,613,993...25,632,440
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G |
Gli3 |
GLI family zinc finger 3 |
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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 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.K778X (human) DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human) |
OMIM ClinVar CTD RGD |
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 PMID:16199547 PMID:18000979 PMID:22428873 PMID:22903559 PMID:24736735 PMID:25741868 PMID:26508445 PMID:28315472 PMID:28492532 PMID:30773290 PMID:9354785 PMID:24667698 More...
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RGD:12738223, RGD:12738211 |
NCBI chr17:54,134,064...54,405,198
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G |
Iqce |
IQ motif containing E |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:25741868 PMID:28488682 PMID:31549751 PMID:35599849 |
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NCBI chr12:13,943,290...13,982,708
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:30982135 |
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NCBI chr 2:6,874,474...7,437,032
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:31,647,000...31,687,768
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
RGD |
PMID:17558409 |
RGD:11073359 |
NCBI chr19:31,865,050...31,957,930
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: KIAA0825-related condition | ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 |
OMIM ClinVar |
PMID:25741868 PMID:30982135 PMID:32147526 |
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NCBI chr 2:6,874,474...7,437,032
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G |
Iqce |
IQ motif containing E |
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ISO |
ClinVar Annotator: match by term: IQCE-related condition | ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 |
OMIM ClinVar |
PMID:25741868 PMID:28488682 PMID:28492532 PMID:31549751 PMID:35599849 |
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NCBI chr12:13,943,290...13,982,708
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 |
OMIM ClinVar |
PMID:25741868 PMID:28973407 PMID:30620395 |
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NCBI chr 7:65,042,237...65,054,888
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 |
OMIM ClinVar |
PMID:25741868 PMID:30395363 |
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NCBI chr 5:25,613,993...25,632,440
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I |
OMIM ClinVar |
PMID:25741868 PMID:30620395 |
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NCBI chr 7:65,042,237...65,054,888
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb |
ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 More...
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NCBI chr 4:5,974,687...6,146,348
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:1,548,449...1,613,461
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb |
ClinVar RGD |
PMID:25741868 PMID:20569257 PMID:18463159 |
RGD:12801447, RGD:12801448 |
NCBI chr 4:6,954,017...6,963,170
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Preaxial polydactyly 4 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:exon:p.R290X (C868T) (human) DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human) |
OMIM ClinVar CTD RGD |
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:24736735 PMID:25741868 PMID:28492532 PMID:30773290 PMID:34906502 PMID:15811011 PMID:22903559 More...
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RGD:12738221, RGD:12738141 |
NCBI chr17:54,134,064...54,405,198
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G |
Zic3 |
Zic family member 3 |
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ISO |
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RGD |
PMID:22234993 |
RGD:12738220 |
NCBI chr X:136,123,662...136,129,627
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G |
Wnt7a |
Wnt family member 7A |
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ISO |
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OMIM |
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NCBI chr 4:123,863,108...123,908,981
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G |
Fndc4 |
fibronectin type III domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,077,155...25,080,812
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G |
Gckr |
glucokinase regulator |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,044,592...25,075,834
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G |
Ift172 |
intraflagellar transport 172 |
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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 PMID:24140113 PMID:24290075 PMID:25168386 PMID:25640679 PMID:25664603 PMID:25741868 PMID:26092869 PMID:26893459 PMID:28492532 PMID:28559085 PMID:29068549 PMID:31054281 PMID:31475041 PMID:31587445 PMID:31964843 PMID:32451492 PMID:32783370 PMID:32939031 PMID:33393400 PMID:34567078 PMID:34906470 PMID:35835773 PMID:35982159 PMID:36413997 More...
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NCBI chr 6:30,801,841...30,841,239
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:155,455,773...155,550,082
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G |
Krtcap3 |
keratinocyte associated protein 3 |
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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 PMID:25168386 PMID:25664603 PMID:25741868 PMID:28492532 PMID:33393400 PMID:34906470 More...
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NCBI chr 6:25,120,938...25,122,522
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
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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 PMID:24183451 PMID:25741868 PMID:28379358 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 PMID:33578420 More...
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NCBI chr 3:13,306,039...13,322,121
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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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 PMID:33578420 More...
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NCBI chr 3:13,241,164...13,306,047
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G |
Cep120 |
centrosomal protein 120 |
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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 PMID:25741868 PMID:27208211 PMID:28492532 PMID:29847808 PMID:30866059 PMID:30988386 More...
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NCBI chr18:49,326,266...49,388,380
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G |
Ucp3 |
uncoupling protein 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly |
ClinVar |
PMID:9769326 PMID:25741868 PMID:28492532 |
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NCBI chr 1:154,815,777...154,828,764
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G |
Kiaa0586 |
KIAA0586 homolog |
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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 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
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NCBI chr 6:95,358,682...95,461,911
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: DYNC2LI1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
ClinVar |
PMID:11138003 PMID:17228349 PMID:17976197 PMID:19111681 PMID:20521169 PMID:20719861 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26077881 PMID:26813946 PMID:27884173 PMID:28492532 PMID:28521186 PMID:29055934 PMID:29353225 PMID:29886606 PMID:30528907 PMID:30697800 PMID:30833958 PMID:31060161 PMID:31392106 PMID:31589614 PMID:32041611 PMID:32088153 PMID:32862661 PMID:33217533 PMID:33269076 PMID:34268478 PMID:34304999 PMID:34887220 PMID:34969652 PMID:36229885 PMID:36726196 More...
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NCBI chr 6:9,965,118...9,990,563
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: DYNC2LI1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
OMIM ClinVar |
PMID:8960501 PMID:9536098 PMID:11138003 PMID:17228349 PMID:17576681 PMID:17976197 PMID:19111681 PMID:20521169 PMID:20719861 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26077881 PMID:26130459 PMID:26813946 PMID:27884173 PMID:28492532 PMID:28521186 PMID:28857138 PMID:29055934 PMID:29353225 PMID:29886606 PMID:30528907 PMID:30697800 PMID:30833958 PMID:31060161 PMID:31392106 PMID:31589614 PMID:32041611 PMID:32088153 PMID:32815859 PMID:32862661 PMID:33217533 PMID:33269076 PMID:34268478 PMID:34304999 PMID:34887220 PMID:34969652 PMID:36229885 PMID:36726196 More...
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NCBI chr 6:15,745,350...15,778,166
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G |
Ift52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: IFT52-related condition | 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 PMID:31042281 More...
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NCBI chr 3:151,672,505...151,696,975
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G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
ClinVar Annotator: match by term: DYNLT2B-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26044572 PMID:27021811 PMID:28492532 More...
|
|
NCBI chr11:68,359,138...68,367,573
|
|
|
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 6:111,460,689...111,537,224
|
|
|
G |
Ift81 |
intraflagellar transport 81 |
|
ISO |
ClinVar Annotator: match by term: IFT81-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly |
OMIM ClinVar |
PMID:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
|
NCBI chr12:33,957,744...34,037,164
|
|
|
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 2:125,528,965...125,613,295
|
|
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 6:31,771,315...31,831,450
|
|
|
G |
4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
|
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 PMID:34523780 PMID:34529350 More...
|
|
NCBI chr10:57,282,433...57,331,259
|
|
|
G |
Axin2 |
axin 2 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:94,393,379...94,426,579
|
|
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 chr16:28,629,928...28,684,230
|
|
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 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 More...
|
|
NCBI chr 8:12,473,955...12,697,075
|
|
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 6:15,745,350...15,778,166
|
|
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 PMID:17024374 PMID:17576681 PMID:19810119 PMID:23220543 PMID:25741868 PMID:28492532 PMID:29068549 PMID:31028937 More...
|
|
NCBI chr14:77,680,901...77,722,608
|
|
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 PMID:22190900 PMID:23026208 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29068549 PMID:35927022 More...
|
|
NCBI chr14:77,591,581...77,679,286
|
|
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 1:95,379,542...95,384,532
|
|
G |
Hnf1b |
HNF1 homeobox B |
|
ISO |
ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA |
ClinVar |
PMID:19639018 PMID:24897035 PMID:25536396 PMID:25741167 PMID:25741868 PMID:26340261 PMID:27615128 PMID:28215227 PMID:33434175 More...
|
|
NCBI chr10:68,735,894...68,789,888
|
|
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 6:30,801,841...30,841,239
|
|
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:28492532 PMID:29068549 |
|
NCBI chr 5:114,576,106...114,679,581
|
|
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 chr 2:155,455,773...155,550,082
|
|
G |
Nek1 |
NIMA-related kinase 1 |
susceptibility |
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:263520 PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23757202 PMID:24033266 PMID:25492405 PMID:25640679 PMID:25741868 PMID:26945885 PMID:27455347 PMID:27530628 PMID:28089114 PMID:28123176 PMID:28492532 PMID:28710492 PMID:28935222 PMID:29068549 PMID:29431110 PMID:29650794 PMID:30093141 PMID:30408610 PMID:32462798 PMID:32920598 PMID:33445179 PMID:35495032 PMID:36443167 More...
|
|
NCBI chr16:34,009,092...34,137,418
|
|
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 chr16:33,238,943...33,632,236
|
|
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 chr16:28,735,522...28,901,261
|
|
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 PMID:29068549 More...
|
|
NCBI chr 9:99,521,176...99,557,966
|
|
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 PMID:25492405 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:71,269,425...71,343,936
|
|
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 6:31,771,315...31,831,450
|
|
|
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 6:31,748,517...31,768,564
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO ISS |
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:614091 |
OMIM ClinVar MouseDO |
PMID:17935248 PMID:21473986 PMID:22486404 PMID:25741868 PMID:25908617 PMID:27158779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 More...
|
|
NCBI chr 6:31,771,315...31,831,450
|
|
|
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 PMID:25492405 PMID:25640679 PMID:25741868 PMID:28422394 PMID:28492532 PMID:29068549 PMID:30320547 More...
|
|
NCBI chr 6:137,133,418...137,189,937
|
|
|
G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,886,948...13,944,286
|
|
G |
Adcy9 |
adenylate cyclase 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,645,373...11,768,462
|
|
G |
Amdhd2 |
amidohydrolase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,187,579...13,196,148
|
|
G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,614,953...10,635,815
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,812,274...14,814,798
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,219,049...15,221,257
|
|
G |
Atp6v0c |
ATPase H+ transporting V0 subunit C |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,196,204...13,202,580
|
|
G |
Axin1 |
axin 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,163,477...15,215,615
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,260,269...14,273,019
|
|
G |
Bicdl2 |
BICD family like cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,691,610...12,700,049
|
|
G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,726...13,500,259
|
|
G |
C10h16orf90 |
similar to human chromosome 16 open reading frame 90 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,618,867...11,632,151
|
|
G |
C10h16orf96 |
similar to human chromosome 16 open reading frame 96 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,707,529...10,750,893
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,894,630...14,952,317
|
|
G |
Capn15 |
calpain 15 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,972,807...14,999,411
|
|
G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,512,684...13,533,380
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,177,271...14,187,378
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,808,355...14,812,284
|
|
G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,757,884...13,783,669
|
|
G |
Cdip1 |
cell death-inducing p53 target 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,773,538...10,796,979
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,247,525...15,255,573
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,795,888...14,804,953
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,151,758...14,177,130
|
|
G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,710,302...12,713,987
|
|
G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,714,137...12,715,568
|
|
G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,094,346...12,159,440
|
|
G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,880,299...10,941,001
|
|
G |
Cramp1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,983,781...14,032,409
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,842,307...11,968,266
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,609,389...15,617,779
|
|
G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,600,747...10,614,891
|
|
G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,361,168...11,386,599
|
|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,498,930...11,505,151
|
|
G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,850...13,473,447
|
|
G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,978,975...13,999,646
|
|
G |
Eci1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,456,715...13,470,061
|
|
G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,353,413...13,358,484
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,413,661...14,420,489
|
|
G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,873,539...13,874,978
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,232,267...15,263,529
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,829,453...14,841,739
|
|
G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,774,644...12,794,373
|
|
G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,798,757...12,807,082
|
|
G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,718,489...13,721,782
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|
G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,457,594...11,484,948
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,741,179...14,743,083
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|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,252,186...14,257,128
|
|
G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,874,883...13,889,527
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|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,804,957...14,809,495
|
|
G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,209,757...13,211,445
|
|
G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,797,076...10,831,178
|
|
G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,781,999...13,788,133
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO ISS |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM:266920 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:29801666 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31589614 PMID:31630094 PMID:31736247 PMID:31964843 PMID:31980526 PMID:32007091 PMID:32037395 PMID:32483926 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34596737 PMID:34662339 PMID:34758253 PMID:34890546 PMID:34906470 PMID:35140360 PMID:35649421 PMID:36460718 More...
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|
NCBI chr10:14,537,134...14,624,926
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,397,076...14,408,439
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,848,965...14,851,881
|
|
G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,963,135...13,983,212
|
|
G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,079,216...13,105,197
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|
G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,763,345...12,767,622
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,597,726...14,684,071
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G |
Luc7l |
LUC7-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,273,340...15,307,131
|
|
G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,918,417...13,958,335
|
|
G |
Mcrip2 |
MAPK regulated co-repressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,883,813...14,888,784
|
|
G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,786,948...11,796,977
|
|
G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,833,170...13,865,684
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,816,684...14,818,702
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,894,574...14,908,067
|
|
G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,638,881...10,688,332
|
|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,377...13,504,128
|
|
G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,164,974...13,180,503
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,148,698...15,151,581
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,916,024...13,917,155
|
|
G |
Msln |
mesothelin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,771,946...14,781,382
|
|
G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,764,883...13,770,609
|
|
G |
Naa60 |
N(alpha)-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,622,554...11,653,078
|
|
G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,253,805...14,255,966
|
|
G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,662,461...13,672,975
|
|
G |
Nlrc3 |
NLR family, CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,551,378...11,585,027
|
|
G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,421,922...14,422,878
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,619,106...15,622,961
|
|
G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,348,080...11,356,621
|
|
G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,723,253...13,726,008
|
|
G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,680,275...13,681,618
|
|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,655,791...13,661,958
|
|
G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,236,905...13,240,001
|
|
G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,903,224...13,906,928
|
|
G |
Nudt16l1 |
nudix hydrolase 16 like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,636,174...10,638,090
|
|
G |
Or1f34 |
olfactory receptor family 1 subfamily F member 34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,333,860...12,334,801
|
|
G |
Or2c1 |
olfactory receptor family 2 subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,682,890...11,683,828
|
|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,942,534...10,950,654
|
|
G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,263,559...13,267,237
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,215,824...15,218,937
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,610,000...13,687,226
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,138,918...15,148,431
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,999,782...14,002,408
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,942,571...14,958,584
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,573,779...13,621,138
|
|
G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,252,805...13,263,584
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,961,955...14,966,818
|
|
G |
Prss21 |
serine protease 21 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,899,820...12,905,612
|
|
G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,029,153...13,033,863
|
|
G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,069,959...13,077,322
|
|
G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,858,941...12,861,281
|
|
G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,865,872...12,873,552
|
|
G |
Ptx4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
|
|
NCBI chr10:14,140,028...14,146,163
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,507,151...15,591,173
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,553,395...13,558,063
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,900,926...14,936,153
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,222,804...15,231,062
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,854,514...14,858,848
|
|
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 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,363,467...15,369,263
|
|
G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,742,682...13,747,192
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,445,516...13,455,858
|
|
G |
Rogdi |
rogdi atypical leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,567,834...10,572,453
|
|
G |
Rpl3l |
ribosomal protein L3-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,258,446...14,268,989
|
|
G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,251,841...14,253,697
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G |
Rpusd1 |
RNA pseudouridine synthase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,751,310...14,755,213
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G |
Septin12 |
septin 12 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,580,900...10,590,582
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G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,526,623...11,549,313
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G |
Smim22 |
small integral membrane protein 22 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,572,146...10,574,339
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G |
Sox8 |
SRY-box transcription factor 8 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,584,829...14,589,818
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G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,907,175...13,912,841
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G |
Srl |
sarcalumenin |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,033,976...11,078,103
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G |
Srrm2 |
serine/arginine repetitive matrix 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,815,471...12,848,750
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G |
Sstr5 |
somatostatin receptor 5 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,506,868...14,512,946
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G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,850,765...14,853,046
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G |
Syngr3 |
synaptogyrin 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,710,553...13,715,309
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,205,819...13,236,013
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G |
Tbl3 |
transducin (beta)-like 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,726,127...13,731,340
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G |
Tedc2 |
tubulin epsilon and delta complex 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,246,032...13,251,196
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G |
Telo2 |
telomere maintenance 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
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NCBI chr10:14,120,491...14,135,729
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G |
Tfap4 |
transcription factor AP-4 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,001,338...11,019,386
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G |
Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,700,051...12,705,411
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G |
Tmem204 |
transmembrane protein 204 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,076,518...14,104,849
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G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,211,670...13,213,666
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G |
Tpsab1 |
tryptase alpha/beta 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,864,887...14,867,302
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G |
Tpsb2 |
tryptase beta 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,381,779...14,383,571
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G |
Tpsg1 |
tryptase gamma 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,386,352...14,390,258
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G |
Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,533,570...13,552,290
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G |
Trap1 |
TNF receptor-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,971,259...12,005,306
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,125,679...14,160,317
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G |
Tsr3 |
TSR3 ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,257,161...14,259,562
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G |
Ubald1 |
UBA-like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,695,754...10,700,519
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G |
Ube2i |
ubiquitin-conjugating enzyme E2I |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,782,245...14,802,911
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G |
Unkl |
unk like zinc finger |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,206,125...14,252,226
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G |
Uqcc4 |
ubiquinol-cytochrome c reductase complex assembly factor 4 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,202,217...14,203,519
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G |
Vasn |
vasorin |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,917,750...10,928,259
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33002628 PMID:33532864 |
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NCBI chr14:43,396,130...43,460,012
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G |
Wdr24 |
WD repeat domain 24 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,346,835...15,353,384
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G |
Wdr90 |
WD repeat domain 90 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,369,184...15,385,797
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G |
Wfikkn1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,896,442...14,898,770
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G |
Zfp13 |
zinc finger protein 13 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,615,455...12,623,615
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G |
Zfp174 |
zinc finger protein 174 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,666,580...11,676,328
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G |
Zfp213 |
zinc finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,592,368...12,599,296
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G |
Zfp263 |
zinc finger protein 263 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,764,424...11,774,324
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G |
Zfp597 |
zinc finger protein 597 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,653,169...11,658,843
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G |
Zfp598 |
zinc finger protein 598 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,694,224...13,706,235
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G |
Zg16b |
zymogen granule protein 16B |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,970,888...12,984,170
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G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,636,302...12,646,275
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G |
Map3k20 |
mitogen-activated protein kinase kinase kinase 20 |
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ISO |
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:26755636 PMID:27816943 PMID:28492532 PMID:30237576 PMID:31130284 PMID:36135330 More...
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NCBI chr 3:77,538,146...77,697,540
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 4 |
OMIM CTD ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
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NCBI chr 4:5,974,687...6,146,348
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
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G |
Fbln1 |
fibulin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:116,310,582...116,390,075
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