|
G |
Abhd11 |
abhydrolase domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:27,318,739...27,322,016
|
|
G |
Abhd11-as1 |
ABHD11 antisense RNA 1 (tail to tail) |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,681,118...21,682,106
|
|
G |
Baz1b |
bromodomain adjacent to zinc finger domain, 1B |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Williams syndrome OMIM:194050 |
CTD ClinVar MouseDO |
PMID:16448863 PMID:25741868 |
|
NCBI chr12:27,068,541...27,126,511
|
|
G |
Bcl7b |
BAF chromatin remodeling complex subunit BCL7B |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:27,133,412...27,146,631
|
|
G |
Bud23 |
BUD23, rRNA methyltransferase and ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,629,551...21,640,758
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|
G |
Cldn3 |
claudin 3 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:27,345,075...27,346,547
|
|
G |
Cldn4 |
claudin 4 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:27,388,160...27,389,958
|
|
G |
Clip2 |
CAP-GLY domain containing linker protein 2 |
|
ISO ISS |
OMIM:194050 ClinVar Annotator: match by term: Williams syndrome |
MouseDO ClinVar RGD |
PMID:25741868 PMID:12195424 |
RGD:734863 |
NCBI chr12:22,163,044...22,227,023
|
|
G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:194050 |
CTD MouseDO |
PMID:20952458 |
|
NCBI chr10:55,239,397...55,267,780
|
|
G |
Dnajc30 |
DnaJ heat shock protein family (Hsp40) member C30 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,628,319...21,629,398
|
|
G |
Eif4h |
eukaryotic translation initiation factor 4H |
|
ISO ISS |
OMIM:194050 ClinVar Annotator: match by term: Williams syndrome |
MouseDO ClinVar RGD |
PMID:25741868 PMID:8812460 |
RGD:1580597 |
NCBI chr12:22,083,155...22,099,876
|
|
G |
Eln |
elastin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome | ClinVar Annotator: match by term: Williams-Beuren syndrome |
CTD ClinVar RGD |
PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 PMID:7545578 PMID:10533027 More...
|
RGD:7207897, RGD:9585755 |
NCBI chr12:27,604,983...27,648,413
|
|
G |
Fkbp6 |
FKBP prolyl isomerase family member 6 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar RGD |
PMID:25741868 PMID:9782077 |
RGD:1582483 |
NCBI chr12:21,318,251...21,390,350
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|
G |
Fzd3 |
frizzled class receptor 3 |
|
ISO |
|
RGD |
PMID:9147651 |
RGD:1582654 |
NCBI chr15:39,421,366...39,488,369
|
|
G |
Fzd9 |
frizzled class receptor 9 |
|
ISS ISO |
OMIM:194050 ClinVar Annotator: match by term: Williams syndrome |
MouseDO ClinVar |
PMID:25741868 |
|
NCBI chr12:27,063,640...27,065,954
|
|
G |
Gtf2i |
general transcription factor II I |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Williams syndrome OMIM:194050 |
CTD ClinVar MouseDO |
PMID:20007321 PMID:21328569 PMID:25741868 |
|
NCBI chr12:28,037,344...28,112,677
|
|
G |
Gtf2ird1 |
GTF2I repeat domain containing 1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Williams syndrome OMIM:194050 |
CTD ClinVar MouseDO |
PMID:20007321 PMID:25741868 |
|
NCBI chr12:22,254,113...22,361,052
|
|
G |
Lat2 |
linker for activation of T cells family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar RGD |
PMID:25741868 PMID:11003705 |
RGD:1549872 |
NCBI chr12:22,104,173...22,118,294
|
|
G |
Limk1 |
LIM domain kinase 1 |
|
ISS ISO |
OMIM:194050 ClinVar Annotator: match by term: Williams syndrome |
MouseDO ClinVar |
PMID:25741868 |
|
NCBI chr12:27,663,177...27,697,085
|
|
G |
Lox |
lysyl oxidase |
|
ISS |
OMIM:194050 |
MouseDO |
|
|
NCBI chr18:45,964,544...45,977,431
|
|
G |
Mettl27 |
methyltransferase like 27 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,757,545...21,766,698
|
|
G |
Mlxipl |
MLX interacting protein-like |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Williams syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:27,178,158...27,213,675
|
|
G |
Ncf1 |
neutrophil cytosolic factor 1 |
|
ISO |
|
RGD |
PMID:16532385 |
RGD:1624399 |
NCBI chr12:28,121,816...28,131,080
|
|
G |
Nsun5 |
NOP2/Sun RNA methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,293,637...21,299,319
|
|
G |
Rcc1l |
RCC1 like |
|
ISO |
|
RGD |
PMID:12073013 |
RGD:1580600 |
NCBI chr12:28,179,205...28,210,462
|
|
G |
Rfc2 |
replication factor C subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:27,756,920...27,770,049
|
|
G |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
|
ISS |
OMIM:194050 |
MouseDO |
|
|
NCBI chr 3:166,511,616...166,559,463
|
|
G |
Stx1a |
syntaxin 1A |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,641,971...21,670,022
|
|
G |
Tbl2 |
transducin (beta)-like 2 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:27,154,150...27,168,446
|
|
G |
Tmem270 |
transmembrane protein 270 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,793,631...21,798,723
|
|
G |
Trim50 |
tripartite motif-containing 50 |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,300,784...21,317,668
|
|
G |
Vps37d |
VPS37D subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Williams syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,609,210...21,614,669
|
|