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G |
ABCB6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
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ALX4 |
ALX homeobox 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9847249 |
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NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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G |
ANKZF1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,229,806...219,236,679
Ensembl chr 2:219,229,783...219,236,679
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ASIC4 |
acid sensing ion channel subunit family member 4 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,507,093...219,538,772
Ensembl chr 2:219,514,170...219,538,772
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ATG9A |
autophagy related 9A |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,219,380...219,229,636
Ensembl chr 2:219,219,380...219,229,717
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BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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...
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NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 |
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NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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CHPF |
chondroitin polymerizing factor |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,538,954...219,543,809
Ensembl chr 2:219,538,954...219,543,809
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G |
CIBAR1 |
CBY1 interacting BAR domain containing 1 |
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ISS |
OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 |
MouseDO |
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NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
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G |
CNPPD1 |
cyclin Pas1/PHO80 domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,171,897...219,178,156
Ensembl chr 2:219,171,897...219,178,106
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G |
DES |
desmin |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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G |
DNAJB2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898
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DNPEP |
aspartyl aminopeptidase |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,372,043...219,400,007
Ensembl chr 2:219,372,043...219,400,022
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G |
ETV2 |
ETS variant transcription factor 2 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:33359164 |
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NCBI chr19:35,641,745...35,644,871
Ensembl chr19:35,641,745...35,644,871
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G |
GLB1L |
galactosidase beta 1 like |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,236,598...219,245,444
Ensembl chr 2:219,236,598...219,245,478
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GLI3 |
GLI family zinc finger 3 |
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ISO IAGP EXP |
DNA:insertion ClinVar Annotator: match by term: Polydactyly ClinVar Annotator: match by term: Hyperdactyly CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) |
ClinVar CTD RGD |
PMID:10441570 PMID:17688467 PMID:25741868 PMID:28492532 PMID:10051311 PMID:14597572 PMID:25267529 PMID:17266131 More...
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RGD:12738140, RGD:12801421, RGD:12738225, RGD:12738144 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GMPPA |
GDP-mannose pyrophosphorylase A |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
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G |
HOXD13 |
homeobox D13 |
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ISO IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar RGD |
PMID:22233338 PMID:25741868 PMID:17266131 |
RGD:12738144 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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G |
IFT80 |
intraflagellar transport 80 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
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NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
IFT88 |
intraflagellar transport 88 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12701101 |
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NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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G |
INHA |
inhibin subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711
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G |
KIAA0586 |
KIAA0586 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15554946 |
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NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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G |
KIF3A |
kinesin family member 3A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17698054 |
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NCBI chr 5:132,688,812...132,737,546
Ensembl chr 5:132,692,628...132,737,638
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G |
LOC130064247 |
ATAC-STARR-seq lymphoblastoid silent region 10530 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:33359164 |
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NCBI chr19:35,643,270...35,643,549
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G |
MEGF8 |
multiple EGF like domains 8 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
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NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
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G |
MIPOL1 |
mirror-image polydactyly 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11954550 |
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NCBI chr14:37,197,937...37,552,361
Ensembl chr14:37,197,894...37,579,125
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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...
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NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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G |
NHEJ1 |
non-homologous end joining factor 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869
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G |
OBSL1 |
obscurin like cytoskeletal adaptor 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
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G |
PTEN |
phosphatase and tensin homolog |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17427195 |
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NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTPRN |
protein tyrosine phosphatase receptor type N |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,289,623...219,309,401
Ensembl chr 2:219,289,623...219,309,648
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G |
RESP18 |
regulated endocrine specific protein 18 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,327,407...219,336,656
Ensembl chr 2:219,327,407...219,333,177
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G |
RETREG2 |
reticulophagy regulator family member 2 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,178,275...219,185,475
Ensembl chr 2:219,176,225...219,185,475
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SHH |
sonic hedgehog signaling molecule |
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ISO IAGP |
DNA:point mutation:enhancer:g.106954C>T (human) |
RGD |
PMID:14597572 PMID:22903933 PMID:10021368 |
RGD:12801421, RGD:12801449, RGD:12801429 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
SLC23A3 |
solute carrier family 23 member 3 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,161,465...219,170,029
Ensembl chr 2:219,161,465...219,170,095
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G |
SLC4A3 |
solute carrier family 4 member 3 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980
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G |
SMAD6 |
SMAD family member 6 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:28492532 PMID:34953066 |
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NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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G |
SPEG |
striated muscle enriched protein kinase |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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G |
STK11IP |
serine/threonine kinase 11 interacting protein |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,597,857...219,616,451
Ensembl chr 2:219,597,857...219,616,451
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G |
STK16 |
serine/threonine kinase 16 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,245,479...219,250,337
Ensembl chr 2:219,245,455...219,250,337
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TMEM198 |
transmembrane protein 198 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,543,663...219,550,595
Ensembl chr 2:219,543,663...219,550,595
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G |
TUBA4A |
tubulin alpha 4a |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902
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G |
ZBTB16 |
zinc finger and BTB domain containing 16 |
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ISO |
DNA:deletion:intron (rat) |
RGD |
PMID:19191224 |
RGD:2312786 |
NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
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G |
ZFAND2B |
zinc finger AN1-type containing 2B |
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IAGP |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 2:219,206,782...219,209,648
Ensembl chr 2:219,195,237...219,209,651
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G |
AL133297.2 |
novel transcript, antisense to IFT140 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
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:34429528 PMID:34890546 More...
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NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328
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G |
ANGPTL5 |
angiopoietin like 5 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:101,890,674...101,916,522
Ensembl chr11:101,890,674...101,916,522
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G |
B9D1 |
B9 domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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G |
BIRC2 |
baculoviral IAP repeat containing 2 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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G |
BIRC3 |
baculoviral IAP repeat containing 3 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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G |
C2CD3 |
C2 domain containing 3 centriole elongation regulator |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
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NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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G |
CEP120 |
centrosomal protein 120 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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G |
CEP126 |
centrosomal protein 126 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:101,915,010...102,001,062
Ensembl chr11:101,915,010...102,001,062
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G |
CFAP300 |
cilia and flagella associated protein 300 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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G |
CILK1 |
ciliogenesis associated kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:27466187 |
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NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
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G |
COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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...
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NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
CSRNP3 |
cysteine and serine rich nuclear protein 3 |
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IAGP |
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 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407
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G |
DCUN1D5 |
defective in cullin neddylation 1 domain containing 5 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:103,050,686...103,092,160
Ensembl chr11:103,050,686...103,092,194
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
|
IAGP EXP |
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short rib-polydactyly syndrome DNA:missense mutations:cds:multiple(human) ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25982780 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29096039 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31730820 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33452237 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34740920 PMID:34958143 PMID:35627109 PMID:22499340 More...
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RGD:11072153 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
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NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
DYNLT2B |
dynein light chain Tctex-type 2B |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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...
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NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FLVCR1 |
FLVCR choline and heme transporter 1 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:27666822 |
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NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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FUZ |
fuzzy planar cell polarity protein |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
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GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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IAGP |
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 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659
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GRK2 |
G protein-coupled receptor kinase 2 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
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NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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IFT140 |
intraflagellar transport 140 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:34429528 PMID:34890546 More...
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NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT172 |
intraflagellar transport 172 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT43 |
intraflagellar transport 43 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 |
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NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
IFT52 |
intraflagellar transport 52 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
CTD ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
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NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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G |
IFT74 |
intraflagellar transport 74 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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G |
IFT80 |
intraflagellar transport 80 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301500 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 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
IFT81 |
intraflagellar transport 81 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793
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G |
IFT88 |
intraflagellar transport 88 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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G |
INTU |
inturned planar cell polarity protein |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:29068549 |
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NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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G |
KIAA0586 |
KIAA0586 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 |
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NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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KIAA0753 |
KIAA0753 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 |
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NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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LBR |
lamin B receptor |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LOC112939934 |
Sharpr-MPRA regulatory region 13789 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
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NCBI chr 4:39,182,198...39,182,523
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LOC126807151 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 4:127,686,687...127,687,886
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G |
LOC126860772 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:19610081 PMID:24183451 PMID:28492532 PMID:29068549 PMID:32576942 |
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NCBI chr 9:128,634,693...128,635,892
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LOC129932486 |
ATAC-STARR-seq lymphoblastoid silent region 1807 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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G |
MATN3 |
matrilin 3 |
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IAGP |
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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G |
MMP1 |
matrix metallopeptidase 1 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
MMP10 |
matrix metallopeptidase 10 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628
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G |
MMP12 |
matrix metallopeptidase 12 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
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G |
MMP13 |
matrix metallopeptidase 13 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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G |
MMP20 |
matrix metallopeptidase 20 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332
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G |
MMP27 |
matrix metallopeptidase 27 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,691,487...102,705,769
Ensembl chr11:102,691,487...102,705,769
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G |
MMP3 |
matrix metallopeptidase 3 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
MMP7 |
matrix metallopeptidase 7 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
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G |
MMP8 |
matrix metallopeptidase 8 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
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G |
NEK1 |
NIMA related kinase 1 |
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IAGP EXP |
DNA:missense, frameshift, nonsense mutations:cds,splice junction: ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human) |
ClinVar CTD RGD |
PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:28492532 PMID:29068549 PMID:22499340 PMID:21211617 More...
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RGD:11072153, RGD:11069733 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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G |
RAB34 |
RAB34, member RAS oncogene family |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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IAGP |
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 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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IAGP |
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 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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SLTM |
SAFB like transcription modulator |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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NCBI chr15:58,879,050...58,933,679
Ensembl chr15:58,879,050...58,933,679
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G |
SMARCAD1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 |
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ISS |
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MouseDO |
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NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
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G |
SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:24183451 PMID:28492532 PMID:29068549 |
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NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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TMEM123 |
transmembrane protein 123 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,396,332...102,452,765
Ensembl chr11:102,396,332...102,470,384
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G |
TRAF3IP1 |
TRAF3 interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
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G |
TRIM59-IFT80 |
TRIM59-IFT80 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301500 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 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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TTC21B |
tetratricopeptide repeat domain 21B |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Jeune's syndrome ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type |
CTD ClinVar |
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 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:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 More...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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TTC21B-AS1 |
TTC21B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33323469 PMID:33532864 More...
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NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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WDR19 |
WD repeat domain 19 |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:33875766 More...
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NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
WDR35 |
WD repeat domain 35 |
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IAGP EXP |
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar Annotator: match by term: Jeune's syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar Annotator: match by term: Short rib-polydactyly syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
WDR35-DT |
WDR35 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:19,990,204...20,004,806
Ensembl chr 2:19,990,209...20,004,795
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YAP1 |
Yes1 associated transcriptional regulator |
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IAGP |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
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ABCG5 |
ATP binding cassette subfamily G member 5 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:26077881 |
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NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
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CSRNP3 |
cysteine and serine rich nuclear protein 3 |
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IAGP |
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 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:32753734 PMID:34740920 More...
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NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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IAGP |
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 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659
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IFT140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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LBR |
lamin B receptor |
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IAGP |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LOC126806173 |
BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:27,453,190...27,454,389
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NEK1 |
NIMA related kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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IAGP |
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 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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IAGP |
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 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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TTC21B |
tetratricopeptide repeat domain 21B |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18414213 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:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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TTC21B-AS1 |
TTC21B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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G |
WDR19 |
WD repeat domain 19 |
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IAGP |
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 More...
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NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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IFT80 |
intraflagellar transport 80 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 OMIM:611263 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:20301500 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
TRIM59-IFT80 |
TRIM59-IFT80 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:20301500 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar Annotator: match by term: DYNC2H1-related condition ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly OMIM:613091 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DYNC2H1-Related Disorder |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 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:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 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:34740920 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 More...
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NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III |
ClinVar |
PMID:29068549 |
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NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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G |
DYNLT2B |
dynein light chain Tctex-type 2B |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
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NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299
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FAM98C |
family with sequence similarity 98 member C |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
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NCBI chr19:38,403,093...38,409,088
Ensembl chr19:38,403,093...38,409,088
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G |
IFT80 |
intraflagellar transport 80 |
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ISS |
OMIM:613091 |
MouseDO |
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NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
KIF24 |
kinesin family member 24 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
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NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268
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G |
LOC126860772 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:29068549 |
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NCBI chr 9:128,634,693...128,635,892
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G |
NEK1 |
NIMA related kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:21211617 PMID:25741868 |
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NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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G |
TMEM256 |
transmembrane protein 256 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
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NCBI chr17:7,402,975...7,404,097
Ensembl chr17:7,402,975...7,404,097
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G |
TMEM256-PLSCR3 |
TMEM256-PLSCR3 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
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NCBI chr17:7,389,727...7,404,131
Ensembl chr17:7,389,734...7,404,097
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G |
LOC129935046 |
ATAC-STARR-seq lymphoblastoid active region 16728 |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 |
ClinVar |
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TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 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...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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G |
TTC21B-AS1 |
TTC21B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 |
ClinVar |
PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 PMID:36263627 More...
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NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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WDR19 |
WD repeat domain 19 |
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IAGP |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 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:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:34295353 PMID:34906470 PMID:36909829 More...
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NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 |
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NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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...
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NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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G |
IFT80 |
intraflagellar transport 80 |
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IAGP |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
NEK1 |
NIMA related kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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G |
TRIM59-IFT80 |
TRIM59-IFT80 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
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...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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G |
WDR19 |
WD repeat domain 19 |
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IAGP |
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...
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NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
HMGB1 |
high mobility group box 1 |
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IAGP |
ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia |
ClinVar |
PMID:20661588 |
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NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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G |
ERF |
ETS2 repressor factor |
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IAGP EXP |
ClinVar Annotator: match by term: Chitayat syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
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NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP |
DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) |
RGD |
PMID:16874813 |
RGD:12738209 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
GLI2 |
GLI family zinc finger 2 |
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IAGP EXP |
ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2 ClinVar Annotator: match by term: Culler-Jones syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 PMID:25741868 PMID:28492532 PMID:30629636 PMID:31292255 More...
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NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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G |
CANT1 |
calcium activated nucleotidase 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Desbuquois Dysplasia ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION OMIM:251450 | OMIM:615777 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD |
PMID:19853239 PMID:25741868 |
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NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
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G |
XYLT1 |
xylosyltransferase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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G |
ABCC1 |
ATP binding cassette subfamily C member 1 (ABCC1 blood group) |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
AC109446.2 |
novel transcript, antisense to XYLT1 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:9536098 PMID:16376579 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 More...
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NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736
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G |
CANT1 |
calcium activated nucleotidase 1 |
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IAGP |
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:25741868 PMID:28492532 PMID:28742282 PMID:31587486 PMID:31988067 PMID:32907608 PMID:34270679 More...
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NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
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CEP20 |
centrosomal protein 20 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625
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G |
LOC126862302 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,404,960...17,406,159
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LOC129390772 |
MPRA-validated peak2513 silencer |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,149,959...17,150,159
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G |
LOC130058563 |
ATAC-STARR-seq lymphoblastoid active region 10502 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,134,754...17,134,813
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G |
LOC130058564 |
ATAC-STARR-seq lymphoblastoid active region 10503 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,252,292...17,252,391
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G |
LOC130058565 |
ATAC-STARR-seq lymphoblastoid active region 10504 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,259,101...17,259,150
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G |
LOC130058566 |
ATAC-STARR-seq lymphoblastoid active region 10505 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 PMID:31785789 |
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NCBI chr16:17,259,311...17,259,710
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LOC130058567 |
ATAC-STARR-seq lymphoblastoid silent region 7235 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,303,414...17,303,483
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G |
LOC130058568 |
ATAC-STARR-seq lymphoblastoid active region 10506 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,347,580...17,347,669
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G |
LOC130058569 |
ATAC-STARR-seq lymphoblastoid active region 10507 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,360,013...17,360,102
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G |
LOC130058570 |
ATAC-STARR-seq lymphoblastoid active region 10508 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,369,586...17,369,675
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G |
LOC130058571 |
ATAC-STARR-seq lymphoblastoid silent region 7236 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,376,026...17,376,095
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LOC130058572 |
ATAC-STARR-seq lymphoblastoid active region 10509 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,462,125...17,462,174
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G |
LOC130058573 |
ATAC-STARR-seq lymphoblastoid active region 10510 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,468,075...17,468,144
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LOC130058574 |
ATAC-STARR-seq lymphoblastoid active region 10511 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,469,740...17,470,009
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G |
LOC130058575 |
ATAC-STARR-seq lymphoblastoid active region 10512 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:26601923 PMID:28492532 |
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NCBI chr16:17,470,130...17,470,179
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G |
LOC130061867 |
ATAC-STARR-seq lymphoblastoid silent region 9077 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:19853239 PMID:22539336 |
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NCBI chr17:79,009,484...79,009,863
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MYH11 |
myosin heavy chain 11 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
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G |
NDE1 |
nudE neurodevelopment protein 1 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
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G |
NOMO3 |
NODAL modulator 3 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr16:16,232,528...16,294,811
Ensembl chr16:16,232,506...16,300,806
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G |
XYLT1 |
xylosyltransferase 1 |
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IAGP |
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...
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NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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G |
AC109446.2 |
novel transcript, antisense to XYLT1 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
ClinVar |
PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721 |
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NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736
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G |
LOC130058566 |
ATAC-STARR-seq lymphoblastoid active region 10505 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 |
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NCBI chr16:17,259,311...17,259,710
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G |
XYLT1 |
xylosyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
ClinVar OMIM |
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 PMID:30554721 More...
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NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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G |
HOXA13 |
homeobox A13 |
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IAGP EXP |
ClinVar Annotator: match by term: Guttmacher syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24239177 PMID:25741868 PMID:28492532 |
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NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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G |
LOC107126288 |
NUP98-HOXA13 recombination region |
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IAGP |
ClinVar Annotator: match by term: Guttmacher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:27,198,443...27,202,743
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G |
CEP290 |
centrosomal protein 290 |
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IAGP |
ClinVar Annotator: match by term: Cerebellar cyst |
ClinVar |
PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21245082 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31734136 More...
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NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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G |
GLI2 |
GLI family zinc finger 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Holoprosencephaly 9 ClinVar Annotator: match by term: GLI2-related condition ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar cyst |
ClinVar CTD OMIM |
PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 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:34198905 PMID:34906515 More...
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NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
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IAGP |
ClinVar Annotator: match by term: Hydrolethalus syndrome |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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G |
KIF7 |
kinesin family member 7 |
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EXP ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:21552264 |
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NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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G |
PUS3 |
pseudouridine synthase 3 |
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IAGP |
ClinVar Annotator: match by term: Hydrolethalus syndrome |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrolethalus syndrome 1 |
OMIM CTD ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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G |
KIF7 |
kinesin family member 7 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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G |
PUS3 |
pseudouridine synthase 3 |
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IAGP |
ClinVar Annotator: match by term: Hydrolethalus syndrome 1 |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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G |
KIF7 |
kinesin family member 7 |
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IAGP |
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...
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NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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G |
LOC126862216 |
BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 |
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IAGP |
ClinVar Annotator: match by term: Hydrolethalus syndrome 2 |
ClinVar |
PMID:21552264 PMID:25741868 PMID:28492532 |
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NCBI chr15:89,628,764...89,629,963
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G |
LMBR1 |
limb development membrane protein 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 PMID:24777739 PMID:24965254 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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G |
SHH |
sonic hedgehog signaling molecule |
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IAGP |
DNA:point mutations:enhancer:404G>A, 404G>C (human) |
RGD |
PMID:19847792 |
RGD:12801438 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
ZRS |
ZPA regulatory sequence |
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IAGP |
ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly |
ClinVar OMIM |
PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 PMID:24777739 PMID:24965254 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 7:156,790,708...156,793,079
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G |
LOC128706665 |
uncharacterized LOC128706665 |
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IAGP |
ClinVar Annotator: match by term: McKusick-Kaufman syndrome |
ClinVar |
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NCBI chr20:10,413,708...10,434,222
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G |
LOC128706666 |
uncharacterized LOC128706666 |
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IAGP |
ClinVar Annotator: match by term: McKusick-Kaufman syndrome |
ClinVar |
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NCBI chr20:10,413,708...10,434,222
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G |
MKKS |
MKKS centrosomal shuttling protein |
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IAGP EXP |
ClinVar Annotator: match by term: McKusick Kaufman syndrome ClinVar Annotator: match by term: MKKS-related condition ClinVar Annotator: match by term: McKusick-Kaufman syndrome ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 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: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:35835773 More...
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NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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G |
LOC105371520 |
uncharacterized LOC105371520 |
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IAGP |
ClinVar Annotator: match by term: Meckel syndrome 13 |
ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chr17:8,174,610...8,182,812
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G |
TMEM107 |
transmembrane protein 107 |
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IAGP |
ClinVar Annotator: match by term: Meckel syndrome 13 |
ClinVar OMIM |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
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G |
CEP290 |
centrosomal protein 290 |
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IAGP EXP |
DNA:frameshift mutation:exon:c.5489del (human) ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) ClinVar Annotator: match by term: Meckel syndrome type 4 |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:26673778 PMID:27353947 PMID:27375279 PMID:27894351 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29217415 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31680349 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35836572 PMID:36460718 PMID:37008293 PMID:17705300 PMID:17564974 More...
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RGD:11070805, RGD:11063677 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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LOC129390514 |
MPRA-validated peak1864 silencer |
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IAGP |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 |
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NCBI chr12:88,062,639...88,062,839
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RLIG1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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IAGP |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160
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TMEM218 |
transmembrane protein 218 |
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IAGP |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763
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MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome |
ClinVar OMIM |
PMID:25741868 PMID:30573562 |
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NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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MYCNOS |
MYCN opposite strand |
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IAGP |
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:30573562 |
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NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
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AKT3 |
AKT serine/threonine kinase 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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CCND2 |
cyclin D2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705253 PMID:29642246 |
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NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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LOC130063979 |
ATAC-STARR-seq lymphoblastoid silent region 10375 |
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IAGP |
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:18,161,088...18,161,587
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME |
CTD ClinVar |
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
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NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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ARMC6 |
armadillo repeat containing 6 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,033,603...19,058,176
Ensembl chr19:19,033,575...19,060,311
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ARRDC2 |
arrestin domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,001,124...18,014,102
Ensembl chr19:18,001,132...18,014,102
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BORCS8 |
BLOC-1 related complex subunit 8 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,176,906...19,192,152
Ensembl chr19:19,176,903...19,192,591
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CCDC124 |
coiled-coil domain containing 124 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,933,015...17,943,985
Ensembl chr19:17,933,015...17,943,991
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CERS1 |
ceramide synthase 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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COPE |
COPI coat complex subunit epsilon |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,899,514...18,919,387
Ensembl chr19:18,899,514...18,919,387
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CRLF1 |
cytokine receptor like factor 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
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CRTC1 |
CREB regulated transcription coactivator 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,683,680...18,782,333
Ensembl chr19:18,683,678...18,782,333
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DDX49 |
DEAD-box helicase 49 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,919,715...18,928,630
Ensembl chr19:18,919,705...18,929,189
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ELL |
elongation factor for RNA polymerase II |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,442,663...18,522,070
Ensembl chr19:18,442,663...18,522,116
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FKBP8 |
FKBP prolyl isomerase 8 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,531,763...18,543,573
Ensembl chr19:18,531,751...18,544,077
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GDF1 |
growth differentiation factor 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
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GDF15 |
growth differentiation factor 15 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176
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HOMER3 |
homer scaffold protein 3 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,929,201...18,941,217
Ensembl chr19:18,929,201...18,941,261
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IFI30 |
IFI30 lysosomal thiol reductase |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,173,813...18,178,117
Ensembl chr19:18,173,162...18,178,117
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IL12RB1 |
interleukin 12 receptor subunit beta 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
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INSL3 |
insulin like 3 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,816,512...17,821,519
Ensembl chr19:17,816,512...17,821,574
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IQCN |
IQ motif containing N |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500
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ISYNA1 |
inositol-3-phosphate synthase 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,434,388...18,438,133
Ensembl chr19:18,434,388...18,438,167
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JAK3 |
Janus kinase 3 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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KCNN1 |
potassium calcium-activated channel subfamily N member 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,951,290...18,000,085
Ensembl chr19:17,951,293...18,000,085
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KLHL26 |
kelch like family member 26 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,637,028...18,671,721
Ensembl chr19:18,637,025...18,671,721
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KXD1 |
KxDL motif containing 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,557,870...18,569,378
Ensembl chr19:18,557,762...18,569,387
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LOC130063979 |
ATAC-STARR-seq lymphoblastoid silent region 10375 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:18,161,088...18,161,587
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LOC130063980 |
ATAC-STARR-seq lymphoblastoid active region 14302 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,168,434...18,168,583
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LRRC25 |
leucine rich repeat containing 25 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,391,137...18,397,622
Ensembl chr19:18,391,137...18,397,622
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LSM4 |
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,306,236...18,323,076
Ensembl chr19:18,306,236...18,323,112
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MAST3 |
microtubule associated serine/threonine kinase 3 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,097,778...18,151,687
Ensembl chr19:18,097,778...18,151,692
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MEF2B |
myocyte enhancer factor 2B |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,145,567...19,170,263
Ensembl chr19:19,145,567...19,192,131
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MPV17L2 |
MPV17 mitochondrial inner membrane protein like 2 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,193,218...18,196,948
Ensembl chr19:18,193,218...18,196,948
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NR2C2AP |
nuclear receptor 2C2 associated protein |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,201,409...19,203,414
Ensembl chr19:19,201,409...19,203,414
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PDE4C |
phosphodiesterase 4C |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,207,965...18,255,362
Ensembl chr19:18,207,965...18,248,200
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PGPEP1 |
pyroglutamyl-peptidase I |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,340,598...18,369,950
Ensembl chr19:18,340,598...18,369,950
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PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
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:28166811 PMID:28492532 PMID:28502725 PMID:33818783 PMID:34170046 More...
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NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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RAB3A |
RAB3A, member RAS oncogene family |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,196,784...18,204,042
Ensembl chr19:18,196,784...18,204,042
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REX1BD |
required for excision 1-B domain containing |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,588,798...18,592,337
Ensembl chr19:18,588,685...18,592,337
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RFXANK |
regulatory factor X associated ankyrin containing protein |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
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RPL18A |
ribosomal protein L18a |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,859,910...17,863,319
Ensembl chr19:17,859,910...17,864,153
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SLC25A42 |
solute carrier family 25 member 42 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030
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SLC5A5 |
solute carrier family 5 member 5 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
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SSBP4 |
single stranded DNA binding protein 4 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,402,725...18,434,562
Ensembl chr19:18,418,864...18,434,562
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SUGP2 |
SURP and G-patch domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,990,887...19,033,844
Ensembl chr19:18,990,888...19,034,023
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TMEM161A |
transmembrane protein 161A |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:19,119,169...19,138,478
Ensembl chr19:19,119,169...19,138,513
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TMEM59L |
transmembrane protein 59 like |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,612,870...18,621,039
Ensembl chr19:18,607,430...18,621,039
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UBA52 |
ubiquitin A-52 residue ribosomal protein fusion product 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,563,766...18,577,550
Ensembl chr19:18,571,730...18,577,550
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G |
UPF1 |
UPF1 RNA helicase and ATPase |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,831,959...18,868,230
Ensembl chr19:18,831,959...18,868,230
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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G |
AKT3 |
AKT serine/threonine kinase 3 |
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IAGP |
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...
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NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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G |
AKT3-IT1 |
AKT3 intronic transcript 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,793,205...243,794,400
Ensembl chr 1:243,793,205...243,794,400
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G |
CEP170 |
centrosomal protein 170 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,124,428...243,255,785
Ensembl chr 1:243,124,428...243,255,348
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G |
LINC01347 |
long intergenic non-protein coding RNA 1347 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,056,314...243,101,744
Ensembl chr 1:243,056,307...243,101,744 Ensembl chr 1:243,056,307...243,101,744
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G |
LINC02774 |
long intergenic non-protein coding RNA 2774 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,917,402...244,047,317
Ensembl chr 1:243,917,402...244,047,317
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G |
LOC110120698 |
VISTA enhancer hs545 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,713,165...243,714,591
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G |
LOC111828504 |
Sharpr-MPRA regulatory regions 872 and 4511 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:244,341,427...244,341,981
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G |
LOC112577566 |
Sharpr-MPRA regulatory region 14056 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,939,247...243,939,541
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G |
LOC122152350 |
Sharpr-MPRA regulatory region 9224 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:242,788,007...242,788,301
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G |
LOC122152351 |
Sharpr-MPRA regulatory region 8354 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,316,367...243,316,661
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G |
LOC122152352 |
Sharpr-MPRA regulatory region 5448 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,476,007...243,476,301
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G |
LOC122152353 |
Sharpr-MPRA regulatory region 1428 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,622,007...243,622,301
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G |
LOC122152354 |
Sharpr-MPRA regulatory region 3339 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:244,067,867...244,068,161
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G |
LOC126806071 |
BRD4-independent group 4 enhancer GRCh37_chr1:242611784-242612983 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:242,448,482...242,449,681
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G |
LOC126806072 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:242792333-242793532 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:242,629,031...242,630,230
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G |
LOC126806073 |
MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,267,835...243,269,034
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G |
LOC126806074 |
BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,453,768...243,454,967
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G |
LOC126806075 |
MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:244,239,067...244,240,266
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G |
LOC129388799 |
MPRA-validated peak4110 silencer |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,019,103...243,019,303
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G |
LOC129932891 |
ATAC-STARR-seq lymphoblastoid active region 2830 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932892 |
ATAC-STARR-seq lymphoblastoid active region 2831 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932893 |
ATAC-STARR-seq lymphoblastoid silent region 2011 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932894 |
ATAC-STARR-seq lymphoblastoid active region 2832 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932895 |
ATAC-STARR-seq lymphoblastoid silent region 2012 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932896 |
ATAC-STARR-seq lymphoblastoid active region 2833 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932897 |
ATAC-STARR-seq lymphoblastoid active region 2836 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932898 |
ATAC-STARR-seq lymphoblastoid active region 2837 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932899 |
ATAC-STARR-seq lymphoblastoid active region 2838 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC129932900 |
ATAC-STARR-seq lymphoblastoid active region 2839 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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G |
LOC440742 |
uncharacterized LOC440742 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:244,063,664...244,067,910
Ensembl chr 1:244,064,330...244,067,909
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G |
MIR4677 |
microRNA 4677 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:243,346,176...243,346,255
Ensembl chr 1:243,346,176...243,346,255
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G |
PLD5 |
phospholipase D family member 5 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
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 chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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G |
SPMIP3 |
sperm microtubule inner protein 3 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:244,352,635...244,389,663
Ensembl chr 1:244,352,635...244,389,663
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G |
ZBTB18 |
zinc finger and BTB domain containing 18 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
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G |
CCND2 |
cyclin D2 |
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IAGP |
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 chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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G |
CCND2-AS1 |
CCND2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
ClinVar |
PMID:25741868 |
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NCBI chr12:4,248,767...4,276,184
Ensembl chr12:4,247,981...4,276,252
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP ISS EXP ISO |
DNA:frameshift deletions ClinVar Annotator: match by term: Pallister-Hall syndrome ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly OMIM:146510 CTD Direct Evidence: marker/mechanism DNA:deletions DNA:mutations:exon, intron:multiple |
ClinVar MouseDO CTD OMIM RGD |
PMID:6641002 PMID:9054938 PMID:9148633 PMID:10441570 PMID:10945658 PMID:12545275 PMID:15739154 PMID:15811011 PMID:18000979 PMID:18435847 PMID:21532573 PMID:24736735 PMID:25741868 PMID:28492532 PMID:34482537 PMID:34906502 PMID:9054938 PMID:11978771 PMID:24736735 PMID:15739154 More...
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RGD:1599838, RGD:12738143, RGD:12738205, RGD:12738222 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
LINC00244 |
long intergenic non-protein coding RNA 244 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,540,491...156,541,101
Ensembl chr 7:156,540,491...156,541,103
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G |
LMBR1 |
limb development membrane protein 1 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB |
ClinVar OMIM |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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G |
LOC113687207 |
Sharpr-MPRA regulatory region 13578 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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NCBI chr 7:156,759,915...156,760,209
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G |
LOC114255744 |
ZRS shadow enhancer |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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NCBI chr 7:156,765,178...156,768,157
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G |
LOC126860251 |
MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,657,142...156,658,341
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G |
LOC126860252 |
MED14-independent group 3 enhancer GRCh37_chr7:156707384-156708583 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,914,690...156,915,889
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G |
LOC129999719 |
ATAC-STARR-seq lymphoblastoid active region 26907 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999720 |
ATAC-STARR-seq lymphoblastoid active region 26908 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999721 |
ATAC-STARR-seq lymphoblastoid active region 26909 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999722 |
ATAC-STARR-seq lymphoblastoid active region 26910 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999723 |
ATAC-STARR-seq lymphoblastoid active region 26911 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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G |
LOC129999724 |
ATAC-STARR-seq lymphoblastoid active region 26912 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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G |
LOC129999725 |
ATAC-STARR-seq lymphoblastoid active region 26913 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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G |
LOC129999726 |
ATAC-STARR-seq lymphoblastoid silent region 18852 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999727 |
ATAC-STARR-seq lymphoblastoid silent region 18853 |
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IAGP |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 PMID:28492532 |
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G |
LOC129999728 |
ATAC-STARR-seq lymphoblastoid active region 26914 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999729 |
ATAC-STARR-seq lymphoblastoid active region 26915 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999730 |
ATAC-STARR-seq lymphoblastoid active region 26916 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC129999731 |
ATAC-STARR-seq lymphoblastoid active region 26917 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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G |
LOC285889 |
uncharacterized LOC285889 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,437,789...156,445,588
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G |
PTCH1 |
patched 1 |
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IAGP |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
RNF32 |
ring finger protein 32 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,640,204...156,677,130
Ensembl chr 7:156,640,281...156,677,130
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G |
RNF32-AS1 |
RNF32 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,654,742...156,659,587
Ensembl chr 7:156,654,185...156,659,582
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G |
RNF32-DT |
RNF32 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 7:156,472,099...156,640,535
Ensembl chr 7:156,388,922...156,640,654
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G |
SHH |
sonic hedgehog signaling molecule |
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IAGP |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
ZRS |
ZPA regulatory sequence |
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IAGP |
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 7:156,790,708...156,793,079
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G |
MAX |
MYC associated factor X |
susceptibility |
IAGP |
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OMIM |
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NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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G |
BCL11A |
BCL11 transcription factor A |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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G |
EFCAB7 |
EF-hand calcium binding domain 7 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:63,523,525...63,585,370
Ensembl chr 1:63,523,372...63,572,693
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:10441570 PMID:25741868 PMID:28492532 |
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NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
KIAA0825 |
KIAA0825 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly |
ClinVar |
PMID:30982135 |
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NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
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G |
LOC100507346 |
uncharacterized LOC100507346 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:95,463,609...95,470,019
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G |
PTCH1 |
patched 1 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
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IAGP |
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 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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G |
BBS12 |
Bardet-Biedl syndrome 12 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly type A1 |
ClinVar |
PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 |
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NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
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G |
CCND2 |
cyclin D2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29642246 |
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NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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G |
CIBAR1 |
CBY1 interacting BAR domain containing 1 |
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EXP IAGP |
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 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP EXP |
DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human) ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Postaxial polydactyly type B ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B ClinVar Annotator: match by term: GLI3-related postaxial polydactyly ClinVar Annotator: match by term: Postaxial polydactyly, type a1/b ClinVar Annotator: match by term: Postaxial polydactyly B DNA:nonsense mutation: :p.K778X (human) |
ClinVar CTD OMIM RGD |
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 PMID:16199547 PMID:18000979 PMID:22428873 PMID:22903559 PMID:24736735 PMID:25741868 PMID:26508445 PMID:28315472 PMID:28492532 PMID:24667698 PMID:9354785 More...
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RGD:12738211, RGD:12738223 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
IQCE |
IQ motif containing E |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly type A1 |
ClinVar |
PMID:25741868 PMID:31549751 |
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NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733
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G |
KIAA0825 |
KIAA0825 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly type A1 |
ClinVar |
PMID:30982135 |
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NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly type A1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
RPGRIP1L |
RPGRIP1 like |
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IAGP |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
RGD |
PMID:17558409 |
RGD:11073359 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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G |
KIAA0825 |
KIAA0825 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 |
OMIM ClinVar |
PMID:25741868 PMID:30982135 PMID:32147526 |
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NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
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G |
LOC126807453 |
BRD4-independent group 4 enhancer GRCh37_chr5:93800512-93801711 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:94,464,807...94,466,006
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G |
ZNF141 |
zinc finger protein 141 |
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IAGP |
ClinVar Annotator: match by term: Postaxial polydactyly type A6 |
ClinVar OMIM |
PMID:23160277 PMID:25741868 |
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NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
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G |
IQCE |
IQ motif containing E |
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IAGP |
ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A7 ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 |
ClinVar OMIM |
PMID:25741868 PMID:28488682 PMID:31549751 |
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NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733
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G |
LOC126859928 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2611286-2612485 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:2,571,652...2,572,851
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G |
LOC129997827 |
ATAC-STARR-seq lymphoblastoid silent region 17880 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 |
ClinVar |
PMID:25741868 |
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A8 |
OMIM ClinVar |
PMID:25741868 PMID:28973407 |
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NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
CIBAR1 |
CBY1 interacting BAR domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 |
OMIM ClinVar |
PMID:25741868 PMID:30395363 |
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NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
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 chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
LMBR1 |
limb development membrane protein 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar Annotator: match by term: Polydactyly, preaxial II CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: TPT-PS SYNDROME |
ClinVar CTD |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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G |
LOC129999727 |
ATAC-STARR-seq lymphoblastoid silent region 18853 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, preaxial II |
ClinVar |
PMID:28492532 |
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G |
PTCH1 |
patched 1 |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, preaxial II |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
SHH |
sonic hedgehog signaling molecule |
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IAGP |
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RGD |
PMID:20569257 PMID:18463159 |
RGD:12801447, RGD:12801448 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
ZRS |
ZPA regulatory sequence |
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IAGP |
ClinVar Annotator: match by term: Polydactyly, preaxial II |
OMIM ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 7:156,790,708...156,793,079
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP EXP |
DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Preaxial polydactyly 4 ClinVar Annotator: match by term: Polysyndactyly uncomplicated DNA:nonsense mutation:exon:p.R290X (C868T) (human) |
CTD ClinVar OMIM RGD |
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:18000979 PMID:18435847 PMID:24736735 PMID:25741868 PMID:28492532 PMID:34906502 PMID:22903559 PMID:15811011 More...
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RGD:12738141, RGD:12738221 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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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:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type ClinVar Annotator: match by term: Saldino-Noonan Syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:34740920 More...
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NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
FNDC4 |
fibronectin type III domain containing 4 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 2:27,491,883...27,495,200
Ensembl chr 2:27,491,883...27,495,200
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G |
GCKR |
glucokinase regulator |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly |
ClinVar OMIM |
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 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 More...
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NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT80 |
intraflagellar transport 80 |
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IAGP |
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 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
KRTCAP3 |
keratinocyte associated protein 3 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 PMID:33393400 PMID:34906470 More...
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NCBI chr 2:27,442,381...27,446,481
Ensembl chr 2:27,442,366...27,446,481
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G |
LOC126806173 |
BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25741868 PMID:26893459 PMID:28492532 PMID:28559085 PMID:34906470 More...
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NCBI chr 2:27,453,190...27,454,389
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G |
LOC126806174 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly |
ClinVar |
PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 2:27,458,819...27,460,018
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G |
TRIM59-IFT80 |
TRIM59-IFT80 readthrough (NMD candidate) |
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IAGP |
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 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
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G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 PMID:25741868 PMID:28379358 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 PMID:33578420 More...
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NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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G |
LOC126860772 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 PMID:25741868 PMID:28379358 PMID:28492532 PMID:29068549 PMID:32576942 PMID:33578420 More...
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NCBI chr 9:128,634,693...128,635,892
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G |
SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
ClinVar |
PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:29068549 PMID:33578420 More...
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NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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G |
CEP120 |
centrosomal protein 120 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25251415 PMID:25361962 PMID:25741868 PMID:27208211 PMID:28492532 PMID:29847808 PMID:30866059 PMID:30988386 More...
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NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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G |
KIAA0586 |
KIAA0586 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly ClinVar Annotator: match by term: KIAA0586-related condition |
ClinVar OMIM |
PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 PMID:25741868 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 More...
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NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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G |
ABCG5 |
ATP binding cassette subfamily G member 5 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
ClinVar |
PMID:26077881 |
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NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
ClinVar OMIM |
PMID:8960501 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26077881 PMID:26130459 PMID:28492532 PMID:28857138 PMID:32815859 More...
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NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
IFT52 |
intraflagellar transport 52 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly |
ClinVar OMIM |
PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 PMID:31042281 More...
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NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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G |
DYNLT2B |
dynein light chain Tctex-type 2B |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
ClinVar OMIM |
PMID:25741868 PMID:26044572 PMID:28492532 |
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NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299
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G |
LOC129938285 |
ATAC-STARR-seq lymphoblastoid active region 21087 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
ClinVar |
PMID:25741868 |
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G |
TM4SF19-DYNLT2B |
TM4SF19-DYNLT2B readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:196,316,085...196,338,420
Ensembl chr 3:196,316,082...196,338,373
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G |
IFT43 |
intraflagellar transport 43 |
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IAGP |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly |
ClinVar OMIM |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 |
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NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
IFT81 |
intraflagellar transport 81 |
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IAGP |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly |
ClinVar OMIM |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793
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G |
INTU |
inturned planar cell polarity protein |
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IAGP |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
ClinVar OMIM |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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G |
LOC126807151 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly |
ClinVar |
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NCBI chr 4:127,686,687...127,687,886
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28400947 PMID:29068549 |
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NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
KIAA0753 |
KIAA0753 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34016807 PMID:34523780 PMID:34529350 More...
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NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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G |
CBR4 |
carbonyl reductase 4 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr 4:168,894,486...169,010,255
Ensembl chr 4:168,863,770...169,010,275
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:16199547 PMID:23339108 PMID:24183451 PMID:25741868 PMID:26938784 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 More...
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NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
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NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
EVC |
EvC ciliary complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:17024374 PMID:17576681 PMID:19810119 PMID:23220543 PMID:25741868 PMID:28492532 PMID:29068549 PMID:31028937 More...
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NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 PMID:22190900 PMID:23026208 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29068549 PMID:35927022 More...
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NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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G |
FUZ |
fuzzy planar cell polarity protein |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
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NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT74 |
intraflagellar transport 74 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:29068549 |
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NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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G |
IFT80 |
intraflagellar transport 80 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 |
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NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
LOC126806174 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 2:27,458,819...27,460,018
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G |
LOC126806961 |
BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 PMID:22190900 PMID:23026208 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29068549 PMID:35927022 More...
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NCBI chr 4:5,639,716...5,640,915
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G |
LOC129993365 |
ATAC-STARR-seq lymphoblastoid silent region 15794 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:28492532 |
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G |
LOC129993366 |
ATAC-STARR-seq lymphoblastoid active region 22138 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
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G |
LOC129993367 |
ATAC-STARR-seq lymphoblastoid active region 22139 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
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IAGP |
ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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G |
NEK1 |
NIMA related kinase 1 |
susceptibility |
IAGP |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar Annotator: match by term: NEK1-related condition |
ClinVar OMIM |
PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23757202 PMID:24033266 PMID:25492405 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...
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NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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G |
PALLD |
palladin, cytoskeletal associated protein |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457
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G |
SH3RF1 |
SH3 domain containing ring finger 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr 4:169,094,259...169,270,956
Ensembl chr 4:169,094,259...169,270,956
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G |
TRAF3IP1 |
TRAF3 interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA |
ClinVar |
PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
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G |
TRIM59-IFT80 |
TRIM59-IFT80 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 |
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NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28870638 PMID:29068549 |
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NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
LOC129933186 |
ATAC-STARR-seq lymphoblastoid active region 15370 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly |
ClinVar |
PMID:28492532 |
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G |
MATN3 |
matrilin 3 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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G |
WDR35 |
WD repeat domain 35 |
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IAGP ISS |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly OMIM:614091 ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 |
ClinVar MouseDO OMIM |
PMID:17935248 PMID:21473986 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25908617 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 More...
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NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly |
ClinVar OMIM |
PMID:9068549 PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 PMID:25492405 PMID:25640679 PMID:25741868 PMID:28422394 PMID:28492532 PMID:29068549 PMID:30320547 More...
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NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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G |
LOC129999765 |
ATAC-STARR-seq lymphoblastoid silent region 18874 |
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IAGP |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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G |
ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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G |
ADCY9 |
adenylate cyclase 9 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,953,387...4,116,442
Ensembl chr16:3,953,387...4,116,442
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G |
AL133297.2 |
novel transcript, antisense to IFT140 |
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IAGP |
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26766544 PMID:26968735 PMID:27058611 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29801666 PMID:30773290 PMID:31047384 PMID:31054281 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:33532864 PMID:33576794 PMID:34429528 PMID:34890546 PMID:34906470 More...
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NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328
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G |
AMDHD2 |
amidohydrolase domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,520,371...2,531,417
Ensembl chr16:2,520,357...2,531,422
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G |
ANKS3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378
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G |
ANTKMT |
adenine nucleotide translocase lysine methyltransferase |
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IAGP |
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 chr16:721,146...722,590
Ensembl chr16:720,581...722,590
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G |
ARHGDIG |
Rho GDP dissociation inhibitor gamma |
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IAGP |
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 chr16:280,591...283,010
Ensembl chr16:280,450...283,010
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G |
ATP6V0C |
ATPase H+ transporting V0 subunit c |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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G |
AXIN1 |
axin 1 |
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IAGP |
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 chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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G |
BAIAP3 |
BAI1 associated protein 3 |
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IAGP |
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 chr16:1,333,645...1,349,439
Ensembl chr16:1,333,638...1,349,439
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G |
BICDL2 |
BICD family like cargo adaptor 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,027,682...3,036,944
Ensembl chr16:3,027,682...3,036,944
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G |
BRICD5 |
BRICHOS domain containing 5 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905
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G |
C16orf90 |
chromosome 16 open reading frame 90 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,493,484...3,496,652
Ensembl chr16:3,493,484...3,495,489
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G |
C16orf96 |
chromosome 16 open reading frame 96 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,538,601...4,600,758
Ensembl chr16:4,556,340...4,600,758
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G |
C1QTNF8 |
C1q and TNF related 8 |
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IAGP |
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 chr16:1,088,226...1,096,306
Ensembl chr16:1,088,226...1,096,711
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G |
CACNA1H |
calcium voltage-gated channel subunit alpha1 H |
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IAGP |
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 chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169
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G |
CAPN15 |
calpain 15 |
|
IAGP |
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 chr16:527,712...554,636
Ensembl chr16:527,712...554,636
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G |
CASKIN1 |
CASK interacting protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605
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G |
CCDC154 |
coiled-coil domain containing 154 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,434,383...1,444,556
Ensembl chr16:1,434,383...1,444,556
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G |
CCDC78 |
coiled-coil domain containing 78 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:722,582...726,880
Ensembl chr16:722,582...726,954
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G |
CCNF |
cyclin F |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
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G |
CDIP1 |
cell death inducing p53 target 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,510,669...4,538,773
Ensembl chr16:4,510,669...4,538,828
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G |
CEMP1 |
cementum protein 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,530,035...2,531,408
Ensembl chr16:2,530,035...2,531,417
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G |
CHTF18 |
chromosome transmission fidelity factor 18 |
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IAGP |
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 chr16:788,620...798,074
Ensembl chr16:788,046...800,737
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G |
CIAO3 |
cytosolic iron-sulfur assembly component 3 |
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IAGP |
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 chr16:729,765...740,997
Ensembl chr16:729,760...741,329
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G |
CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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 chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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G |
CLDN6 |
claudin 6 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,014,712...3,018,183
Ensembl chr16:3,014,712...3,020,071
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G |
CLDN9 |
claudin 9 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505
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G |
CLUAP1 |
clusterin associated protein 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,495,427...3,539,048
Ensembl chr16:3,500,976...3,539,048
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G |
CORO7 |
coronin 7 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705
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G |
CORO7-PAM16 |
CORO7-PAM16 readthrough |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494
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G |
CRAMP1 |
cramped chromatin regulator homolog 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,612,360...1,677,908
Ensembl chr16:1,612,337...1,677,908
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G |
CREBBP |
CREB binding protein |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
DECR2 |
2,4-dienoyl-CoA reductase 2 |
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IAGP |
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 chr16:401,885...412,482
Ensembl chr16:401,858...412,487
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G |
DNAAF8 |
dynein axonemal assembly factor 8 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,734,537...4,749,396
Ensembl chr16:4,734,344...4,749,396
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G |
DNAJA3 |
DnaJ heat shock protein family (Hsp40) member A3 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,425,868...4,456,775
Ensembl chr16:4,425,805...4,456,775
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G |
DNASE1 |
deoxyribonuclease 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
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G |
DNASE1L2 |
deoxyribonuclease 1 like 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711
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G |
E4F1 |
E4F transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742
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G |
ECI1 |
enoyl-CoA delta isomerase 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300
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G |
ELOB |
elongin B |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,771,414...2,777,280
Ensembl chr16:2,771,414...2,777,289
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G |
EME2 |
essential meiotic structure-specific endonuclease subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,772,810...1,781,702
Ensembl chr16:1,772,810...1,781,708
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G |
FAHD1 |
fumarylacetoacetate hydrolase domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207
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G |
FAM234A |
family with sequence similarity 234 member A |
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IAGP |
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 chr16:234,821...269,963
Ensembl chr16:234,521...272,183
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G |
FBXL16 |
F-box and leucine rich repeat protein 16 |
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IAGP |
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 chr16:692,500...705,801
Ensembl chr16:692,498...705,801
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G |
FLYWCH1 |
FLYWCH-type zinc finger 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,911,931...2,951,208
Ensembl chr16:2,911,931...2,951,208
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G |
FLYWCH2 |
FLYWCH family member 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,883,195...2,899,382
Ensembl chr16:2,883,213...2,899,382
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G |
GFER |
growth factor, augmenter of liver regeneration |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
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G |
GLIS2 |
GLIS family zinc finger 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597
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G |
GNG13 |
G protein subunit gamma 13 |
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IAGP |
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 chr16:798,041...800,734
Ensembl chr16:798,041...800,734
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G |
GNPTG |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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IAGP |
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 chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737
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G |
HAGH |
hydroxyacylglutathione hydrolase |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,807,629...1,827,194
Ensembl chr16:1,795,620...1,827,157
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G |
HAGHL |
hydroxyacylglutathione hydrolase like |
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IAGP |
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 chr16:727,106...729,715
Ensembl chr16:726,936...735,525
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G |
HCFC1R1 |
host cell factor C1 regulator 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,022,620...3,024,286
Ensembl chr16:3,022,625...3,024,286
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G |
HMOX2 |
heme oxygenase 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,474,736...4,510,347
Ensembl chr16:4,474,690...4,510,347
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G |
HS3ST6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP ISS |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome OMIM:266920 ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 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:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34890546 PMID:34906470 More...
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NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IGFALS |
insulin like growth factor binding protein acid labile subunit |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
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G |
IL32 |
interleukin 32 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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G |
JMJD8 |
jumonji domain containing 8 |
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IAGP |
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 chr16:681,670...684,334
Ensembl chr16:681,670...684,528
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G |
JPT2 |
Jupiter microtubule associated homolog 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,678,279...1,702,086
Ensembl chr16:1,678,256...1,702,280
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G |
KCTD5 |
potassium channel tetramerization domain containing 5 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,682,523...2,709,030
Ensembl chr16:2,682,523...2,709,030
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G |
KREMEN2 |
kringle containing transmembrane protein 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,964,275...2,968,380
Ensembl chr16:2,964,216...2,968,380
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G |
LMF1 |
lipase maturation factor 1 |
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IAGP |
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 chr16:853,634...981,613
Ensembl chr16:853,634...981,318
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G |
LOC126862260 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:27874174 PMID:28492532 PMID:28559085 PMID:29688594 PMID:32037395 More...
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NCBI chr16:1,524,507...1,525,706
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G |
LUC7L |
LUC7 like |
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IAGP |
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 chr16:188,990...229,449
Ensembl chr16:188,969...229,463
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G |
MAPK8IP3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
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G |
MCRIP2 |
MAPK regulated corepressor interacting protein 2 |
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IAGP |
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 chr16:641,828...648,474
Ensembl chr16:636,817...648,474
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
MEIOB |
meiosis specific with OB-fold |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178
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G |
METRN |
meteorin, glial cell differentiation regulator |
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IAGP |
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 chr16:715,118...719,655
Ensembl chr16:715,118...719,655
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G |
METTL26 |
methyltransferase like 26 |
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IAGP |
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 chr16:634,430...636,305
Ensembl chr16:634,427...636,366
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G |
MGRN1 |
mahogunin ring finger 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,624,826...4,690,972
Ensembl chr16:4,616,493...4,690,974
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G |
MIR1225 |
microRNA 1225 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284
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G |
MLST8 |
MTOR associated protein, LST8 homolog |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453
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G |
MMP25 |
matrix metallopeptidase 25 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,046,561...3,060,726
Ensembl chr16:3,046,062...3,060,726
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G |
MRPL28 |
mitochondrial ribosomal protein L28 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:366,969...370,538
Ensembl chr16:366,969...371,289
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G |
MRPS34 |
mitochondrial ribosomal protein S34 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150
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G |
MSLN |
mesothelin |
|
IAGP |
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 chr16:760,734...768,865
Ensembl chr16:760,734...768,865
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G |
MSRB1 |
methionine sulfoxide reductase B1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,938,229...1,943,199
Ensembl chr16:1,938,229...1,943,199
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G |
MTRNR2L4 |
MT-RNR2 like 4 (pseudogene) |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,371,053...3,372,283
Ensembl chr16:3,370,979...3,372,668
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G |
NAA60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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G |
NDUFB10 |
NADH:ubiquinone oxidoreductase subunit B10 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975
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G |
NHERF2 |
NHERF family PDZ scaffold protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,026,902...2,039,026
Ensembl chr16:2,025,356...2,039,026
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G |
NHLRC4 |
NHL repeat containing 4 |
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IAGP |
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 chr16:567,005...569,495
Ensembl chr16:567,005...569,495
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G |
NLRC3 |
NLR family CARD domain containing 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,539,033...3,577,403
Ensembl chr16:3,539,033...3,577,403
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G |
NME3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,770,320...1,771,543
Ensembl chr16:1,770,320...1,771,561
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G |
NME4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:396,729...400,754
Ensembl chr16:396,725...410,367
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G |
NMRAL1 |
NmrA like redox sensor 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,461,694...4,476,337
Ensembl chr16:4,461,691...4,495,763
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G |
NOXO1 |
NADPH oxidase organizer 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,978,917...1,981,469
Ensembl chr16:1,978,917...1,984,192
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G |
NPW |
neuropeptide W |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,019,785...2,020,755
Ensembl chr16:2,009,926...2,020,755
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G |
NTHL1 |
nth like DNA glycosylase 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866
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G |
NTN3 |
netrin 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,471,297...2,474,145
Ensembl chr16:2,471,297...2,474,145
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G |
NUBP2 |
NUBP iron-sulfur cluster assembly factor 2, cytosolic |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,782,960...1,789,186
Ensembl chr16:1,782,932...1,789,186
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G |
NUDT16L1 |
nudix hydrolase 16 like 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,693,562...4,695,859
Ensembl chr16:4,693,562...4,695,859
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G |
OR1F1 |
olfactory receptor family 1 subfamily F member 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,188,204...3,206,556
Ensembl chr16:3,188,204...3,224,779
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G |
OR2C1 |
olfactory receptor family 2 subfamily C member 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,322,931...3,358,137
Ensembl chr16:3,355,889...3,357,306
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G |
PAM16 |
presequence translocase associated motor 16 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607
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G |
PAQR4 |
progestin and adipoQ receptor family member 4 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,969,348...2,973,484
Ensembl chr16:2,969,270...2,973,484
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|
G |
PDIA2 |
protein disulfide isomerase family A member 2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:283,164...287,215
Ensembl chr16:283,164...287,215
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G |
PDPK1 |
3-phosphoinositide dependent protein kinase 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,538,021...2,603,188
Ensembl chr16:2,537,979...2,603,188
|
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G |
PGAP6 |
post-GPI attachment to proteins 6 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr16:370,788...386,979
Ensembl chr16:370,788...387,113
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G |
PGP |
phosphoglycolate phosphatase |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840
|
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G |
PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
|
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G |
PKD1 |
polycystin 1, transient receptor potential channel interacting |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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G |
PKMYT1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,972,808...2,980,446
Ensembl chr16:2,968,024...2,980,479
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G |
PRR25 |
proline rich 25 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:805,443...813,861
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G |
PRR35 |
proline rich 35 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr16:559,814...565,529
Ensembl chr16:560,394...565,529
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G |
PRSS21 |
serine protease 21 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,817,237...2,821,719
Ensembl chr16:2,817,180...2,826,304
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G |
PRSS22 |
serine protease 22 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,852,730...2,858,170
Ensembl chr16:2,852,730...2,858,170
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G |
PRSS27 |
serine protease 27 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,712,422...2,720,224
Ensembl chr16:2,712,419...2,720,551
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G |
PRSS33 |
serine protease 33 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,783,953...2,787,915
Ensembl chr16:2,783,953...2,787,948
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G |
PRSS41 |
serine protease 41 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,798,470...2,805,304
Ensembl chr16:2,798,470...2,805,304
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G |
PTX4 |
pentraxin 4 |
|
IAGP |
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 chr16:1,485,886...1,488,944
Ensembl chr16:1,485,886...1,488,981
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G |
RAB11FIP3 |
RAB11 family interacting protein 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:425,649...523,011
Ensembl chr16:425,649...523,011
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G |
RAB26 |
RAB26, member RAS oncogene family |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165
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G |
RAB40C |
RAB40C, member RAS oncogene family |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
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NCBI chr16:589,357...629,268
Ensembl chr16:589,357...629,272
|
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G |
RGS11 |
regulator of G protein signaling 11 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
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NCBI chr16:268,307...275,944
Ensembl chr16:268,301...275,980
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G |
RHBDL1 |
rhomboid like 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:675,671...678,268
Ensembl chr16:675,671...678,268
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G |
RHOT2 |
ras homolog family member T2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:668,083...674,174
Ensembl chr16:668,100...674,174
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G |
RNF151 |
ring finger protein 151 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,966,856...1,968,949
Ensembl chr16:1,966,823...1,968,975
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G |
RNPS1 |
RNA binding protein with serine rich domain 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397
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G |
ROGDI |
rogdi atypical leucine zipper |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
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G |
RPL3L |
ribosomal protein L3 like |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606
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G |
RPS2 |
ribosomal protein S2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,962,058...1,964,826
Ensembl chr16:1,962,058...1,964,841
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G |
RPUSD1 |
RNA pseudouridine synthase domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:784,974...788,381
Ensembl chr16:784,974...788,397
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G |
SEPTIN12 |
septin 12 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398
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G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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G |
SMIM22 |
small integral membrane protein 22 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,788,397...4,796,491
Ensembl chr16:4,788,397...4,796,491
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G |
SNHG9 |
small nucleolar RNA host gene 9 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,964,996...1,965,504
Ensembl chr16:1,964,895...1,965,509
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G |
SOX8 |
SRY-box transcription factor 8 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:981,770...986,979
Ensembl chr16:981,444...986,979
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G |
SPSB3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,776,712...1,782,571
Ensembl chr16:1,776,712...1,793,700
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G |
SRL |
sarcalumenin |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,189,374...4,242,080
Ensembl chr16:4,189,374...4,242,080
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G |
SRRM2 |
serine/arginine repetitive matrix 2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
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G |
SSTR5 |
somatostatin receptor 5 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,072,747...1,081,454
Ensembl chr16:1,063,867...1,081,454
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G |
STUB1 |
STIP1 homology and U-box containing protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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G |
SYNGR3 |
synaptogyrin 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,989,970...1,994,275
Ensembl chr16:1,989,660...1,994,275
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G |
TBC1D24 |
TBC1 domain family member 24 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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G |
TBL3 |
transducin beta like 3 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:1,972,053...1,982,929
Ensembl chr16:1,972,053...1,982,929
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G |
TEDC2 |
tubulin epsilon and delta complex 2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:2,460,109...2,464,963
Ensembl chr16:2,460,086...2,464,963
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G |
TELO2 |
telomere maintenance 2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
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NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
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G |
TFAP4 |
transcription factor AP-4 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:4,257,186...4,273,023
Ensembl chr16:4,257,186...4,273,075
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G |
THOC6 |
THO complex subunit 6 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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G |
TIGD7 |
tigger transposable element derived 7 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,298,808...3,305,430
Ensembl chr16:3,298,808...3,305,729
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G |
TMEM204 |
transmembrane protein 204 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,528,678...1,555,568
Ensembl chr16:1,528,688...1,555,580
|
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G |
TNFRSF12A |
TNF receptor superfamily member 12A |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:3,020,368...3,022,383
Ensembl chr16:3,018,445...3,022,383
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G |
TPSAB1 |
tryptase alpha/beta 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,240,705...1,242,554
Ensembl chr16:1,239,266...1,242,554
|
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G |
TPSB2 |
tryptase beta 2 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,228,336...1,230,184
Ensembl chr16:1,227,272...1,232,757
|
|
G |
TPSD1 |
tryptase delta 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,256,069...1,259,008
Ensembl chr16:1,256,059...1,259,008
|
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G |
TPSG1 |
tryptase gamma 1 |
|
IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr16:1,221,651...1,225,268
Ensembl chr16:1,221,651...1,225,793
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRAP1 |
TNF receptor associated protein 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,658,037...3,717,524
Ensembl chr16:3,651,639...3,717,553
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TSC2 |
TSC complex subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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TSR3 |
TSR3 ribosome maturation factor |
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IAGP |
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 chr16:1,349,240...1,351,878
Ensembl chr16:1,349,240...1,351,878
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UBALD1 |
UBA like domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,608,884...4,614,888
Ensembl chr16:4,608,883...4,615,027
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UBE2I |
ubiquitin conjugating enzyme E2 I |
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IAGP |
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 chr16:1,309,152...1,327,017
Ensembl chr16:1,291,444...1,327,018
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UNKL |
unk like zinc finger |
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IAGP |
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 chr16:1,363,205...1,414,704
Ensembl chr16:1,363,205...1,414,751
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UQCC4 |
ubiquinol-cytochrome c reductase complex assembly factor 4 |
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IAGP |
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 chr16:1,419,752...1,420,747
Ensembl chr16:1,419,752...1,420,756
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VASN |
vasorin |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,371,848...4,383,538
Ensembl chr16:4,371,848...4,383,538
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WDR19 |
WD repeat domain 19 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33002628 PMID:33532864 |
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NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR24 |
WD repeat domain 24 |
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IAGP |
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 chr16:684,622...690,398
Ensembl chr16:684,622...690,444
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WDR90 |
WD repeat domain 90 |
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IAGP |
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 chr16:648,979...667,830
Ensembl chr16:649,311...667,833
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WFIKKN1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
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IAGP |
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 chr16:630,985...634,117
Ensembl chr16:629,239...634,117
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ZG16B |
zymogen granule protein 16B |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,830,303...2,832,276
Ensembl chr16:2,830,253...2,839,585
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ZNF174 |
zinc finger protein 174 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,401,215...3,409,364
Ensembl chr16:3,401,215...3,409,364
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ZNF200 |
zinc finger protein 200 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,222,325...3,235,158
Ensembl chr16:3,222,325...3,236,221
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ZNF205 |
zinc finger protein 205 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,112,586...3,120,517
Ensembl chr16:3,112,560...3,120,517
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ZNF213 |
zinc finger protein 213 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,135,029...3,142,804
Ensembl chr16:3,129,777...3,142,804
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ZNF263 |
zinc finger protein 263 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,283,491...3,301,401
Ensembl chr16:3,283,283...3,301,401
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ZNF500 |
zinc finger protein 500 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:4,744,245...4,767,162
Ensembl chr16:4,748,239...4,767,624
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ZNF597 |
zinc finger protein 597 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,432,414...3,443,504
Ensembl chr16:3,432,414...3,443,504
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ZNF598 |
zinc finger protein 598, E3 ubiquitin ligase |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,997,654...2,009,821
Ensembl chr16:1,997,654...2,009,821
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ZNF75A |
zinc finger protein 75A |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,305,497...3,323,465
Ensembl chr16:3,305,406...3,318,852
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ZSCAN10 |
zinc finger and SCAN domain containing 10 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,088,890...3,099,294
Ensembl chr16:3,088,890...3,099,295
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ZSCAN32 |
zinc finger and SCAN domain containing 32 |
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IAGP |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr16:3,382,085...3,401,004
Ensembl chr16:3,382,081...3,401,065
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MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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IAGP EXP |
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25741868 PMID:26755636 PMID:28492532 |
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NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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MAP3K20-AS1 |
MAP3K20 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly |
ClinVar |
PMID:25741868 PMID:26755636 PMID:28492532 |
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NCBI chr 2:173,197,712...173,282,036
Ensembl chr 2:173,166,446...173,282,036
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LMBR1 |
limb development membrane protein 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Syndactyly, type IV CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:1849351 PMID:18417549 PMID:19847792 |
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NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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FBLN1 |
fibulin 1 |
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IAGP EXP |
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Synpolydactyly 2 |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 |
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NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135
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