RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Disease Attributes |
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Accession: | DOID:9000817
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browse the term
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Definition: | Clinical characteristics of disease or illness. |
Synonyms: | exact_synonym: | Disease Attribute |
| primary_id: | MESH:D020969; RDO:0004731 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
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Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 PMID:28611552 PMID:29100920 PMID:29506241 PMID:30457409 PMID:31529555 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Ayme-Gripp syndrome |
OMIM ClinVar |
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25741868 PMID:25865493 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Actb |
actin, beta |
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ISS ISO |
OMIM:243310 | OMIM:614583 ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome |
MouseDO ClinVar |
PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 PMID:22366783 PMID:23756437 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26583190 PMID:27862284 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:31970217 More...
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NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Actg1 |
actin, gamma 1 |
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ISS ISO |
OMIM:243310 | OMIM:614583 ClinVar Annotator: match by term: Baraitser-Winter syndrome |
MouseDO ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
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Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation |
OMIM ClinVar |
PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:22495914 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25741868 PMID:25979418 PMID:26297194 PMID:26467025 PMID:26583190 PMID:27862284 PMID:27866048 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29220674 PMID:29788902 PMID:31970217 PMID:32860008 More...
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NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
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Ap5z1 |
adaptor related protein complex 5 subunit zeta 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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Fbxl18 |
F-box and leucine-rich repeat protein 18 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181
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Fscn1 |
fascin actin-bundling protein 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Mmd2 |
monocyte to macrophage differentiation-associated 2 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773
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Papolb |
poly(A) polymerase beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:12,044,275...12,046,621
Ensembl chr12:12,044,480...12,046,656
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Radil |
Rap associating with DIL domain |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540
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Rbak |
RB-associated KRAB zinc finger |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934
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Rnf216 |
ring finger protein 216 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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Slc29a4 |
solute carrier family 29 member 4 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834
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Tnrc18 |
trinucleotide repeat containing 18 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,755,392...11,851,721
Ensembl chr12:11,755,392...11,851,384
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Wipi2 |
WD repeat domain, phosphoinositide interacting 2 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 |
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NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 |
OMIM ClinVar |
PMID:3351890 PMID:9536098 PMID:14684684 PMID:17576681 PMID:18414213 PMID:19419963 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26467025 PMID:27240540 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29986705 PMID:30143558 More...
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Thoc6 |
THO complex 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
OMIM ClinVar |
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 PMID:32790266 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type |
ClinVar OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Boomerang dysplasia |
OMIM ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 |
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Il23a |
interleukin 23 subunit alpha |
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ISO |
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RGD |
PMID:16923792 |
RGD:39457937 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17387165 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Rps23 |
ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:28257692 |
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NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
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Adnp2 |
ADNP homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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Atp9b |
ATPase phospholipid transporting 9B (putative) |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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Ctdp1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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Galr1 |
galanin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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Isca2 |
iron-sulfur cluster assembly 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29122497 PMID:29297947 PMID:29470032 More...
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NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
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Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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Mbp |
myelin basic protein |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Nfatc1 |
nuclear factor of activated T-cells 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Pard6g |
par-6 family cell polarity regulator gamma |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
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Rbfa |
ribosome binding factor A |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
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Sall3 |
spalt-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
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Slc66a2 |
solute carrier family 66 member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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Txnl4a |
thioredoxin-like 4A |
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ISO |
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome |
OMIM ClinVar |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 |
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NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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Zfp236 |
zinc finger protein 236 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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Zfp516 |
zinc finger protein 516 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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Cd96 |
CD96 molecule |
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ISO |
ClinVar Annotator: match by term: C syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 |
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NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
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C6 |
complement C6 |
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ISO |
ClinVar Annotator: match by term: C6 deficiency, subtotal |
ClinVar |
PMID:7535801 PMID:8871666 PMID:16199547 PMID:17257682 PMID:24378253 PMID:28492532 More...
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NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 |
OMIM ClinVar |
PMID:25741868 PMID:33058759 |
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NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 |
ClinVar OMIM |
PMID:33058759 |
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NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutations:cds:multiple(human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome | ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome DNA:mutation:cds:p.Q241R(mouse) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:4386970 PMID:5771505 PMID:8042262 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12692057 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16772349 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17374713 PMID:17483702 PMID:17488796 PMID:17496923 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18398503 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19416762 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19735675 PMID:20008640 PMID:20141835 PMID:20186801 PMID:20301365 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22190897 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22876591 PMID:22892241 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23564332 PMID:23614898 PMID:23680146 PMID:23685455 PMID:23715574 PMID:23763990 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23875798 PMID:23907581 PMID:23918947 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24283439 PMID:24303953 PMID:24388723 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24458522 PMID:24508103 PMID:24512911 PMID:24524299 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24918823 PMID:24920063 PMID:25024077 PMID:25035421 PMID:25037139 PMID:25079330 PMID:25155755 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27404270 PMID:27478040 PMID:27480103 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28854169 PMID:28891408 PMID:28911804 PMID:28947956 PMID:29084544 PMID:29493581 PMID:29533785 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30290804 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31277584 PMID:31474318 PMID:31560489 PMID:31779674 PMID:31891627 PMID:32810930 PMID:33683002 PMID:34476331 PMID:16474404 PMID:25035421 PMID:21383153 More...
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RGD:1600471, RGD:11352608, RGD:11567236 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17703371 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
DNA:missense mutations:CDS:p.G60R, p.D153V (human) ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome | ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:20186801 PMID:20949621 PMID:21686179 PMID:21784453 PMID:21797849 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25359213 PMID:25741868 PMID:26242988 PMID:27763634 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29517769 PMID:16474404 More...
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RGD:1600471 |
NCBI chr 4:178,185,418...178,218,484
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17703371 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29493581 PMID:29643386 PMID:29907801 PMID:30141192 PMID:30763456 PMID:31942422 PMID:31972311 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:20358587 PMID:23885229 PMID:24033266 PMID:24265153 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:33452774 More...
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:17703371 PMID:28492532 |
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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G |
Snapc5 |
small nuclear RNA activating complex, polypeptide 5 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
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NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
OMIM ClinVar |
PMID:3265306 PMID:4386970 PMID:5771505 PMID:11313766 PMID:12068308 PMID:15035987 PMID:16007634 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17603482 PMID:17603483 PMID:17703371 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19206169 PMID:19376813 PMID:19416762 PMID:19537845 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20350999 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:22190897 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22698809 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23564332 PMID:23644139 PMID:23875798 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24283439 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24524299 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24920063 PMID:25035421 PMID:25157968 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26732095 PMID:27146152 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27391121 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28650561 PMID:28687512 PMID:28911804 PMID:28947956 PMID:29084544 PMID:29522538 PMID:29533785 PMID:29907801 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30732632 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:33040082 PMID:33683002 PMID:34113008 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 |
OMIM ClinVar |
PMID:7877967 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17551339 PMID:17601930 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18628094 PMID:20652921 PMID:20949621 PMID:21062266 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25741868 PMID:26037647 PMID:26242988 PMID:28492532 PMID:28650561 PMID:29948256 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder |
OMIM ClinVar |
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18456719 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22848035 PMID:23093928 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29493581 PMID:29907801 PMID:30141192 PMID:30763456 PMID:31942422 PMID:31972311 PMID:33128510 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 |
OMIM ClinVar |
PMID:15175348 PMID:16439621 PMID:17366577 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24719372 PMID:24803665 PMID:25326637 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29696744 PMID:30773290 More...
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ccdc32 |
coiled-coil domain containing 32 |
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ISO |
ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome |
OMIM ClinVar |
PMID:32307552 |
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NCBI chr 3:105,998,429...106,010,930
Ensembl chr 3:105,998,430...106,010,975
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM ClinVar |
PMID:25561519 PMID:25741868 PMID:28492532 |
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NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
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G |
Aff4 |
AF4/FMR2 family, member 4 |
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ISO |
ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA | ClinVar Annotator: match by term: Chops syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28166811 PMID:28492532 PMID:34782754 More...
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NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29808285 |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Trip12 |
thyroid hormone receptor interactor 12 |
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ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome |
OMIM ClinVar |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:31814248 More...
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NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403
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G |
Kdm1a |
lysine demethylase 1A |
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ISO |
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies |
OMIM ClinVar |
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 |
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISS ISO |
OMIM:135900 ClinVar Annotator: match by term: Coffin-Siris syndrome |
MouseDO ClinVar |
PMID:25741868 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
DNA:frameshift,nonsense mutations, haploinsufficiency:cds: ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar RGD |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 |
RGD:11526783 |
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Kdm8 |
lysine demethylase 8 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
ClinVar |
PMID:18414213 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
ClinVar |
PMID:22426308 PMID:25741868 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
OMIM ClinVar |
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24674232 PMID:25326635 PMID:25473036 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26822237 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:30504930 PMID:31132234 PMID:32860008 PMID:33098347 More...
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 10 |
OMIM ClinVar |
PMID:25741868 PMID:30661772 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Smarcd1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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Bicra |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 12 |
OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:33232675 |
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NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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Actn4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 More...
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 |
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NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mmp11 |
matrix metallopeptidase 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
OMIM ClinVar |
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24658001 PMID:24658002 PMID:24728327 PMID:25058500 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26901136 PMID:27701467 PMID:28166811 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28973083 PMID:30111351 PMID:30973214 PMID:31097095 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
OMIM ClinVar |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 More...
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 7 |
OMIM ClinVar |
PMID:25741868 PMID:29429572 PMID:31207137 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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Smarcc2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition |
OMIM ClinVar |
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 |
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NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 |
OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:32860008 |
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
OMIM ClinVar |
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:31497877 More...
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
ClinVar |
PMID:25741868 PMID:27392078 |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 |
OMIM ClinVar |
PMID:16782820 PMID:20400119 PMID:25741868 |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 | ClinVar Annotator: match by term: PERCHING syndrome |
OMIM ClinVar |
PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 More...
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Acbd6 |
acyl-CoA binding domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
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NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Chmp2b |
charged multivesicular body protein 2B |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:26467025 |
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NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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Hesx1 |
HESX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266 More...
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NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
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Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Lhx4 |
LIM homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
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NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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Pou1f1 |
POU class 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
OMIM ClinVar |
PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 PMID:2634610 PMID:7670563 PMID:7721104 PMID:7833912 PMID:8768831 PMID:9392392 PMID:9588494 PMID:9626142 PMID:11297581 PMID:11924936 PMID:12629113 PMID:12904605 PMID:15928241 PMID:16968807 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Man2c1 |
mannosidase, alpha, class 2C, member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 |
ClinVar OMIM |
PMID:35045343 |
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NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
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Neil1 |
nei-like DNA glycosylase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 |
ClinVar |
PMID:35045343 |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Cdk13 |
cyclin-dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
OMIM ClinVar |
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28554332 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 More...
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Abcb1a |
ATP binding cassette subfamily B member 1A |
treatment |
ISO |
DNA:SNP:exon:3435C>T(human) |
RGD |
PMID:29979333 |
RGD:39456099 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32558485 |
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NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16670151 |
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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G |
Kdm1a |
lysine demethylase 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22493729 |
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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G |
Lztfl1 |
leucine zipper transcription factor-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32558485 PMID:32998156 |
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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Ren |
renin |
exacerbates |
ISO |
protein:increased activity:blood plasma (human) |
RGD |
PMID:30653055 |
RGD:125097479 |
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies |
OMIM ClinVar |
PMID:25741868 PMID:33513338 |
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Morc2 |
MORC family CW-type zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
OMIM ClinVar |
PMID:25741868 PMID:28135719 PMID:28492532 PMID:28771897 PMID:32693025 |
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Kdm3b |
lysine demethylase 3B |
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ISO |
ClinVar Annotator: match by term: Diets-Jongmans syndrome |
OMIM ClinVar |
PMID:25741868 PMID:29351919 PMID:30929739 |
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NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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Abca13 |
ATP binding cassette subfamily A member 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr14:83,873,397...84,376,138
Ensembl chr14:83,873,940...84,375,075
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G |
Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20627363 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25078270 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
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G |
Abcf1 |
ATP binding cassette subfamily F member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr20:2,802,519...2,815,433
Ensembl chr20:2,802,488...2,815,433
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G |
Abcf2 |
ATP binding cassette subfamily F member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22294766 |
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NCBI chr 4:10,594,802...10,607,606
Ensembl chr 4:10,594,907...10,607,606
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G |
Abt1 |
activator of basal transcription 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr17:41,699,151...41,701,253
Ensembl chr17:41,699,147...41,701,259
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G |
Acad8 |
acyl-CoA dehydrogenase family, member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Amfr |
autocrine motility factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9241080 |
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NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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G |
Amotl1 |
angiomotin-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34480788 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24473795 |
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Arfgap2 |
ADP-ribosylation factor GTPase activating protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
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G |
Arg2 |
arginase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23424623 |
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NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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G |
Atf2 |
activating transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23591579 |
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NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12216079 PMID:12509969 PMID:19296535 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 PMID:21750559 |
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NCBI chr13:22,689,783...22,853,920
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24571310 |
|
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Bop1 |
BOP1 ribosomal biogenesis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:10673208 PMID:11283936 PMID:16081686 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29103775 |
|
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccne1 |
cyclin E1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19385967 |
|
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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G |
Cd274 |
CD274 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27692344 |
|
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cdh1 |
cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19839049 |
|
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cdh2 |
cadherin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23876460 |
|
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Cdkl2 |
cyclin dependent kinase like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25333262 |
|
NCBI chr14:16,027,381...16,063,257
Ensembl chr14:16,028,363...16,063,252
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G |
Cga |
glycoprotein hormones, alpha polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10566621 |
|
NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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G |
Clcn3 |
chloride voltage-gated channel 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
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|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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|
G |
Cnpy2 |
canopy FGF signaling regulator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:748,877...754,352
Ensembl chr 7:749,008...755,519
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30381462 |
|
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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|
G |
Cops7a |
COP9 signalosome subunit 7A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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|
G |
Cpsf1 |
cleavage and polyadenylation specific factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:108,319,429...108,330,023
Ensembl chr 7:108,319,434...108,329,934
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|
G |
Crybg1 |
crystallin beta-gamma domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22402438 |
|
NCBI chr20:47,425,030...47,496,918
Ensembl chr20:47,426,183...47,621,392
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|
G |
Csta |
cystatin A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20461718 PMID:22287159 |
|
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738331 PMID:29106415 PMID:34019859 |
|
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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|
G |
Ctsb |
cathepsin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
|
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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|
G |
Ctsc |
cathepsin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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|
G |
Ddb1 |
damage-specific DNA binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
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|
G |
Ddx58 |
DEXD/H-box helicase 58 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20170495 |
|
NCBI chr 5:55,321,229...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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|
G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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G |
E2f2 |
E2F transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
|
NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
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|
G |
E2f4 |
E2F transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
|
NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
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G |
E2f5 |
E2F transcription factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
|
NCBI chr 2:86,997,331...87,012,901
Ensembl chr 2:86,997,332...87,012,990
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|
G |
E2f7 |
E2F transcription factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
|
NCBI chr 7:46,150,533...46,192,739
Ensembl chr 7:46,151,293...46,192,734
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|
G |
E2f8 |
E2F transcription factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
|
NCBI chr 1:98,565,717...98,584,265
Ensembl chr 1:98,565,717...98,584,098
|
|
G |
Ednra |
endothelin receptor type A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194819 |
|
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
|
|
G |
Egf |
epidermal growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21794976 |
|
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20859196 |
|
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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|
G |
Epha2 |
Eph receptor A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21479221 |
|
NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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|
G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10897039 PMID:21638049 PMID:21750559 |
|
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
|
|
G |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21638049 |
|
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
|
|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20104649 |
|
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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|
G |
Exosc5 |
exosome component 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
|
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G |
Fam168a |
family with sequence similarity 168, member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
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|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11594583 |
|
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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|
G |
Fat1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:34390292 |
|
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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|
G |
Fgd5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34427968 |
|
NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563
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|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12644816 |
|
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23146280 |
|
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29180066 |
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30381462 |
|
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hikeshi |
heat shock protein nuclear import factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:143,825,922...143,849,374
Ensembl chr 1:143,825,923...143,849,363
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|
G |
Hnrnpl |
heterogeneous nuclear ribonucleoprotein L |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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G |
Hoxd10 |
homeo box D10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34737577 |
|
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Hoxd11 |
homeobox D11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33614284 |
|
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12082015 PMID:32621833 |
|
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Idh3b |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738319 |
|
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rap |
interleukin 1 receptor accessory protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738319 |
|
NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530
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G |
Ing1 |
inhibitor of growth family, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
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G |
Kdm1a |
lysine demethylase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22493729 |
|
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20124447 |
|
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30654191 |
|
NCBI chr 4:178,185,418...178,218,484
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G |
Lamc2 |
laminin subunit gamma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30381462 |
|
NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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G |
Lat2 |
linker for activation of T cells family, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32587277 |
|
NCBI chr12:22,104,163...22,118,294
Ensembl chr12:22,104,219...22,118,288
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G |
LOC100361854 |
ribosomal protein S26-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr X:107,822,116...107,822,555
Ensembl chr X:107,822,178...107,822,525
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G |
M6pr |
mannose-6-phosphate receptor, cation dependent |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 4:155,501,080...155,510,219
Ensembl chr 4:155,500,921...155,510,216
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G |
Mir100 |
microRNA 100 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026881 |
|
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
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G |
Mir145 |
microRNA 145 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026881 |
|
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mir186 |
microRNA 186 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34291859 |
|
NCBI chr 2:246,582,806...246,582,891
Ensembl chr 2:246,582,806...246,582,891
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G |
Mir196a |
microRNA 196a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27816459 |
|
NCBI chr 7:134,110,400...134,110,509
Ensembl chr 7:134,110,400...134,110,509
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G |
Mir200b |
microRNA 200b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19839049 |
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir200c |
microRNA 200c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19839049 |
|
NCBI chr 4:157,523,679...157,523,747
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G |
Mir206 |
microRNA 206 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27538595 |
|
NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332
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G |
Mir21 |
microRNA 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27816459 |
|
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir322 |
microRNA 322 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27538595 |
|
NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688
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G |
Mir346 |
microRNA 346 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27777383 |
|
NCBI chr16:10,218,118...10,218,215
Ensembl chr16:10,218,118...10,218,215
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G |
Mir34b |
microRNA 34b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026881 |
|
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
|
G |
Mir99a |
microRNA 99a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026881 |
|
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
|
|
G |
Mki67 |
marker of proliferation Ki-67 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29179997 |
|
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22321834 |
|
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mrpl13 |
mitochondrial ribosomal protein L13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 7:86,951,541...86,973,147
Ensembl chr 7:86,951,541...86,973,577
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G |
Mrps11 |
mitochondrial ribosomal protein S11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253
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G |
Mrps18b |
mitochondrial ribosomal protein S18B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr20:2,838,174...2,844,260
Ensembl chr20:2,838,030...2,844,260
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G |
Myb |
MYB proto-oncogene, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22321834 PMID:28191284 PMID:34626302 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Naxd |
NAD(P)HX dehydratase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
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G |
Nbas |
NBAS subunit of NRZ tethering complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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G |
Ncapg |
non-SMC condensin I complex, subunit G |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34480403 |
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NCBI chr14:65,404,235...65,432,902
Ensembl chr14:65,404,163...65,432,902
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G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
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G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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G |
Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32621833 |
|
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nop56 |
NOP56 ribonucleoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
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G |
Pa2g4 |
proliferation-associated 2G4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:984,795...992,264
Ensembl chr 7:983,971...992,331
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Phb1 |
prohibitin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29106415 |
|
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32621833 |
|
NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
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G |
Plpp1 |
phospholipid phosphatase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
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G |
Polr3k |
RNA polymerase III subunit K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:168,982,846...168,987,043
Ensembl chr 3:168,982,812...168,987,040
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G |
Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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G |
Prdx3 |
peroxiredoxin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
|
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
|
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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G |
Prep |
prolyl endopeptidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr20:48,556,211...48,653,165
Ensembl chr20:48,556,280...48,654,466
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G |
Prkab1 |
protein kinase AMP-activated non-catalytic subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr12:40,588,140...40,598,673
Ensembl chr12:40,588,211...40,598,661
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G |
Prpf19 |
pre-mRNA processing factor 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
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G |
Psmd14 |
proteasome 26S subunit, non-ATPase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30871063 |
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NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729295 |
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptov1 |
PTOV1, extended AT-hook containing adaptor protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:95,347,065...95,354,514
Ensembl chr 1:95,347,068...95,353,613
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G |
Ptpa |
protein phosphatase 2 phosphatase activator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549
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G |
Ptprf |
protein tyrosine phosphatase, receptor type, F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
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G |
Pus1 |
pseudouridine synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34291859 |
|
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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G |
Rab27b |
RAB27B, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34291859 |
|
NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180
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G |
Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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G |
Ranbp10 |
RAN binding protein 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22614916 |
|
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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G |
Rchy1 |
ring finger and CHY zinc finger domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28191284 |
|
NCBI chr14:16,113,263...16,129,017
Ensembl chr14:16,113,224...16,129,167
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Rpl13 |
ribosomal protein L13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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G |
Rpl15 |
ribosomal protein L15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
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G |
Rpl18 |
ribosomal protein L18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452
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G |
Rps15 |
ribosomal protein S15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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G |
Rps21-ps1 |
ribosomal protein S21, pseudogene 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
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G |
Rps6 |
ribosomal protein S6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602 Ensembl chr 5:101,371,136...101,374,602
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G |
Rrm1 |
ribonucleotide reductase catalytic subunit M1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21496433 |
|
NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
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G |
Rrp9 |
ribosomal RNA processing 9, U3 small nucleolar RNA binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 8:107,116,411...107,126,123
Ensembl chr 8:107,117,471...107,126,123
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G |
Rxrb |
retinoid X receptor beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773
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G |
Serbp1 |
Serpine1 mRNA binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 4:96,401,587...96,421,816
Ensembl chr 4:96,401,477...96,421,813
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G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34491613 |
|
NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
associated with Colorectal Neoplasms |
RGD |
PMID:32359697 |
RGD:151361139 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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G |
Snx5 |
sorting nexin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:131,621,709...131,641,205
Ensembl chr 3:131,621,880...131,641,192
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29434186 |
|
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:10673208 PMID:11283936 PMID:16081686 PMID:18930813 PMID:20618948 PMID:21749277 PMID:22547077 More...
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
|
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22488367 |
|
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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G |
Suclg1 |
succinate-CoA ligase GDP/ADP-forming subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600
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G |
Sympk |
symplekin scaffold protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:78,672,326...78,700,684
Ensembl chr 1:78,672,378...78,700,684
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G |
Taf15 |
TATA-box binding protein associated factor 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr10:68,272,900...68,304,951
Ensembl chr10:68,272,969...68,304,949
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21252717 |
|
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tmem63a |
transmembrane protein 63a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11552987 |
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NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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G |
Top1 |
DNA topoisomerase I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30132517 |
|
NCBI chr 3:149,293,658...149,375,405
Ensembl chr 3:149,293,403...149,376,623
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G |
Top2a |
DNA topoisomerase II alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22204715 PMID:30132517 |
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NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30381462 |
|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Trap1 |
TNF receptor-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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G |
Txnip |
thioredoxin interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
|
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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G |
Ubxn1 |
UBX domain protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:205,765,212...205,769,236
Ensembl chr 1:205,745,120...205,816,520
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G |
Urm1 |
ubiquitin related modifier 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642 Ensembl chr 3:13,092,200...13,117,642
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G |
Vcp |
valosin-containing protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29693262 |
|
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Vegfb |
vascular endothelial growth factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23146280 |
|
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
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G |
Wdr46 |
WD repeat domain 46 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535
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G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27777383 |
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NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30703373 |
|
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Yeats2 |
YEATS domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34686948 |
|
NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
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G |
Yy1 |
YY1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21792014 |
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NCBI chr 6:127,706,739...127,731,907
Ensembl chr 6:127,707,596...127,732,747
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G |
Zeb1 |
zinc finger E-box binding homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19839049 |
|
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19839049 |
|
NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
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G |
Zfp593 |
zinc finger protein 593 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20026017 |
|
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16537716 PMID:31569996 |
|
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31569996 |
|
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20130021 |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20130021 |
|
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Tspan12 |
tetraspanin 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20130021 |
|
NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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G |
Adam12 |
ADAM metallopeptidase domain 12 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
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G |
Adam8 |
ADAM metallopeptidase domain 8 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
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G |
Adgra1 |
adhesion G protein-coupled receptor A1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,629,744...194,673,254
Ensembl chr 1:194,629,726...194,672,550
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G |
Bnip3 |
BCL2 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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G |
Caly |
calcyon neuron-specific vesicular protein |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551
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G |
Cfap46 |
cilia and flagella associated protein 46 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
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G |
Clrn3 |
clarin 3 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:190,319,025...190,334,648
Ensembl chr 1:190,319,026...190,334,648
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Dhx32 |
DEAH-box helicase 32 (putative) |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:188,524,512...188,577,500
Ensembl chr 1:188,524,512...188,577,500
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G |
Dock1 |
dedicator of cyto-kinesis 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
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G |
Dpysl4 |
dihydropyrimidinase-like 4 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:193,883,039...193,898,916
Ensembl chr 1:193,883,106...193,898,914
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G |
Ebf3 |
EBF transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
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G |
Echs1 |
enoyl-CoA hydratase, short chain 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
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G |
Fank1 |
fibronectin type III and ankyrin repeat domains 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:188,577,512...188,685,501
Ensembl chr 1:188,577,575...188,685,504
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G |
Foxi2 |
forkhead box I2 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:190,222,151...190,225,526
Ensembl chr 1:190,222,703...190,226,433
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G |
Fuom |
fucose mutarotase |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,888,535...194,893,046
Ensembl chr 1:194,886,709...194,893,046
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G |
Glrx3 |
glutaredoxin 3 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
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G |
Inpp5a |
inositol polyphosphate-5-phosphatase A |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428
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G |
Insyn2a |
inhibitory synaptic factor 2A |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:189,697,856...189,753,194
Ensembl chr 1:189,697,878...189,752,922
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G |
Jakmip3 |
janus kinase and microtubule interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:193,753,134...193,881,105
Ensembl chr 1:193,811,513...193,881,104
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G |
Kndc1 |
kinase non-catalytic C-lobe domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,689,962...194,738,353
Ensembl chr 1:194,690,135...194,738,362
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G |
LOC100302465 |
hypothetical LOC100302465 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:189,059,744...189,293,353
Ensembl chr 1:189,059,746...189,293,435
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G |
Lrrc27 |
leucine rich repeat containing 27 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,004,967...194,035,087
Ensembl chr 1:194,005,182...194,035,084
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mki67 |
marker of proliferation Ki-67 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Mtg1 |
mitochondrial ribosome-associated GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,931,543...194,944,278
Ensembl chr 1:194,931,531...194,944,277
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G |
Nkx6-2 |
NK6 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515
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G |
Nps |
neuropeptide S |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821
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G |
Paox |
polyamine oxidase |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,903,267...194,928,504
Ensembl chr 1:194,903,273...194,928,504
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G |
Ppp2r2d |
protein phosphatase 2, regulatory subunit B, delta |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:193,665,918...193,700,277
Ensembl chr 1:193,665,855...193,700,274
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G |
Prap1 |
proline-rich acidic protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,883,078...194,886,874
Ensembl chr 1:194,883,078...194,886,872
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G |
Ptpre |
protein tyrosine phosphatase, receptor type, E |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:190,344,331...190,494,815
Ensembl chr 1:190,344,401...190,489,534
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G |
Pwwp2b |
PWWP domain containing 2B |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958
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G |
Sprn |
shadow of prion protein |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,944,602...194,948,448
Ensembl chr 1:194,943,826...194,948,460
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G |
Stk32c |
serine/threonine kinase 32C |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:193,900,718...193,981,723
Ensembl chr 1:193,900,718...193,981,723
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G |
Syce1 |
synaptonemal complex central element protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
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G |
Tcerg1l |
transcription elongation regulator 1-like |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:193,012,937...193,201,860
Ensembl chr 1:193,012,937...193,200,913
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G |
Tubgcp2 |
tubulin, gamma complex associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
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G |
Utf1 |
undifferentiated embryonic cell transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,740,339...194,741,465
Ensembl chr 1:194,740,339...194,741,465
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G |
Ventx |
VENT homeobox |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954
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G |
Zfp511 |
zinc finger protein 511 |
|
ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:194,817,697...194,822,102
Ensembl chr 1:194,817,697...194,822,102
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G |
Tmem251 |
transmembrane protein 251 |
|
ISO |
ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE |
ClinVar OMIM |
PMID:33252156 |
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NCBI chr 6:121,884,554...121,886,710
Ensembl chr 6:121,884,643...121,886,275
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G |
Cd209d |
CD209d molecule |
susceptibility |
ISO |
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) |
RGD |
PMID:24874302 |
RGD:39938981 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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G |
Clec4m |
C-type lectin domain family 4 member M |
susceptibility |
ISO |
DNA:repeats:exon 4: allele 6, allele 9 (human) |
RGD |
PMID:24874302 |
RGD:39938981 |
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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G |
Ereg |
epiregulin |
susceptibility |
ISO |
DNA:SNP:exon 4: (rs2367707) (human) |
RGD |
PMID:30634928 |
RGD:39457687 |
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
|
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Aff4 |
AF4/FMR2 family, member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
|
NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19935664 |
|
NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30670789 |
|
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614070 |
|
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
|
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9207787 PMID:9207788 |
|
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Msl3 |
MSL complex subunit 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
|
NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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G |
Tbce |
tubulin folding cofactor E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
|
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Eif5a |
eukaryotic translation initiation factor 5A |
|
ISO |
ClinVar Annotator: match by term: FAUNDES-BANKA SYNDROME |
OMIM ClinVar |
PMID:33547280 |
|
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
|
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES |
OMIM ClinVar |
PMID:25741868 PMID:30690204 PMID:31608932 |
|
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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|
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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrochondrogenesis |
CTD ClinVar |
PMID:21035103 PMID:28492532 |
|
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
|
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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
|
|
|
G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536098 PMID:10486316 PMID:10612821 PMID:15922184 PMID:17576681 PMID:17999364 PMID:19344236 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 More...
|
|
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
|
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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
|
|
|
G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 2 |
OMIM ClinVar |
PMID:9536098 PMID:15922184 PMID:17576681 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:28492532 PMID:30311386 More...
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|
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
|
|
|
G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
ISO |
ClinVar Annotator: match by term: Filippi syndrome |
OMIM ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
|
|
|
G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
|
|
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
|
|
G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
PMID:3536967 PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338588 PMID:9399842 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10694921 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12161601 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15241795 PMID:15598221 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16571647 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17701892 PMID:18435798 PMID:19012347 PMID:19059503 PMID:19161152 PMID:19293843 PMID:19370756 PMID:19396033 PMID:19839986 PMID:20200614 PMID:20375004 PMID:20591885 PMID:20979188 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21883168 PMID:21895641 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24311428 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25944730 PMID:25979247 PMID:26026792 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26875674 PMID:27146836 PMID:27153395 PMID:27245183 PMID:27582083 PMID:27959697 PMID:28166811 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28650953 PMID:28655553 PMID:29168297 PMID:29357934 PMID:29543232 PMID:29907982 PMID:31008308 PMID:31053375 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:32123317 PMID:32938213 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 1 |
OMIM ClinVar |
PMID:18677313 PMID:21415077 PMID:24014090 PMID:25741868 PMID:28492532 PMID:30195254 More...
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 2 |
OMIM ClinVar |
PMID:1852206 PMID:2005308 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20375004 PMID:20564469 PMID:21542060 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25142510 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26272055 PMID:26333736 PMID:26380986 PMID:26498160 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27146836 PMID:27153395 PMID:27245183 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28098115 PMID:28166811 PMID:28301460 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29620724 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31053375 PMID:31098894 PMID:31163209 PMID:31211626 PMID:31751304 PMID:32123317 PMID:32679894 PMID:34498425 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Abat |
4-aminobutyrate aminotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21552517 |
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NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22311042 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18727619 |
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NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adh1 |
alcohol dehydrogenase 1C (class I), gamma polypeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16404797 |
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NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892
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G |
Adora1 |
adenosine A1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19019667 |
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NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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G |
Adora2a |
adenosine A2a receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19019667 |
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NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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G |
Alad |
aminolevulinate dehydratase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20123609 |
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NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16404797 PMID:17590986 |
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NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036326 |
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NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
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G |
Arhgef5 |
Rho guanine nucleotide exchange factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29054765 |
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NCBI chr 4:72,087,205...72,112,316
Ensembl chr 4:72,087,247...72,111,254
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G |
Bap1 |
Brca1 associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24928783 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28696432 |
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356304 |
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NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14514962 |
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NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036326 |
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NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036326 |
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NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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G |
Fcer1g |
Fc epsilon receptor Ig |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18595682 |
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NCBI chr13:83,649,447...83,654,215
Ensembl chr13:83,649,449...83,671,443
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036326 |
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NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19222424 |
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22467534 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il4r |
interleukin 4 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30472377 |
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NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Jak2 |
Janus kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29047144 |
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Kcnj8 |
potassium inwardly-rectifying channel, subfamily J, member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19120683 |
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NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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G |
Mecom |
MDS1 and EVI1 complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29047144 |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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G |
Msh6 |
mutS homolog 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29616133 |
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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G |
Mt2A |
metallothionein 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27122239 |
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NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Myo18b |
myosin XVIIIb |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29054765 |
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NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036326 |
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Ppp3cc |
protein phosphatase 3 catalytic subunit gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29275364 |
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NCBI chr15:45,289,917...45,362,012
Ensembl chr15:45,290,373...45,361,832
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G |
Rad51 |
RAD51 recombinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22613844 |
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NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
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G |
RT1-A1 |
RT1 class Ia, locus A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3459889 |
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NCBI chr20:4,905,309...4,914,593
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G |
Slc6a3 |
solute carrier family 6 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27219321 |
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NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29047144 |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tgfa |
transforming growth factor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14514962 |
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NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22613844 |
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NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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G |
Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
OMIM ClinVar |
PMID:12840224 PMID:25741868 PMID:27964749 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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G |
Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:25741868 PMID:30893644 |
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NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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G |
Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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G |
Kmt2a |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
OMIM ClinVar |
PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29255178 PMID:29574747 PMID:30305169 PMID:32860008 More...
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
PMID:25574841 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease |
ClinVar |
PMID:25741868 PMID:29625025 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:8898652 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32300199 PMID:32573726 PMID:22158539 More...
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RGD:12880042 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Zpr1 |
ZPR1 zinc finger |
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ISO |
ClinVar Annotator: match by term: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES |
ClinVar OMIM |
PMID:29851065 |
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NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death |
OMIM ClinVar |
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 More...
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33624863 |
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NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies |
ClinVar OMIM |
PMID:19020503 PMID:33517393 |
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NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:24033266 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 |
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NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) |
OMIM ClinVar RGD |
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29610177 PMID:30167850 PMID:24075186 PMID:23749988 More...
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RGD:12914762, RGD:12911215 |
NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human) ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder |
ClinVar OMIM RGD |
PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 PMID:28708303 PMID:30167850 PMID:26545877 More...
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RGD:11528248 |
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Tbck |
TBC1 domain containing kinase |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:28492532 PMID:29283439 PMID:30103036 PMID:30542205 PMID:31618753 PMID:32576985 PMID:32860008 PMID:34298581 More...
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NCBI chr 2:221,175,749...221,348,126
Ensembl chr 2:221,175,785...221,348,126
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Tmem94 |
transmembrane protein 94 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28097321 PMID:30526868 PMID:32825426 |
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NCBI chr10:100,991,523...101,027,046
Ensembl chr10:100,991,573...101,027,394
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Fbxo11 |
F-box protein 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28691247 PMID:29796876 PMID:30057029 PMID:30679813 PMID:34505148 More...
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NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
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Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
OMIM ClinVar |
PMID:25741868 PMID:27939639 PMID:27939640 PMID:32652122 |
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NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Rpl10l |
ribosomal protein L10-like |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
ClinVar |
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NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
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Otud6b |
OTU deubiquitinase 6B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
OMIM ClinVar |
PMID:25741868 PMID:28343629 PMID:28492532 PMID:32181568 |
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NCBI chr 5:28,181,992...28,214,486
Ensembl chr 5:28,023,594...28,214,334
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Ccdc85c |
coiled-coil domain containing 85C |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies |
ClinVar |
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NCBI chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371
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Ccnk |
cyclin K |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies |
OMIM ClinVar |
PMID:25741868 PMID:30122539 |
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NCBI chr 6:127,090,115...127,113,195
Ensembl chr 6:127,090,569...127,113,191
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Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:34314705 |
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NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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Ddx6 |
DEAD-box helicase 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:31422817 |
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NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Cnot2 |
CCR4-NOT transcription complex, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies |
OMIM ClinVar |
PMID:31145527 PMID:31512373 |
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NCBI chr 7:52,130,444...52,222,338
Ensembl chr 7:52,130,441...52,223,575
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Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations |
OMIM ClinVar |
PMID:11477608 PMID:25741868 PMID:30481285 |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Cnot3 |
CCR4-NOT transcription complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:31201375 |
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NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
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Bcl11b |
BAF chromatin remodeling complex subunit BCL11B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 |
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NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Tfe3 |
transcription factor binding to IGHM enhancer 3 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES |
OMIM ClinVar |
PMID:25741868 PMID:30595499 PMID:31833172 PMID:32409512 |
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NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:18781183 PMID:20700148 PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:32581362 More...
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NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
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Ube3b |
ubiquitin protein ligase E3B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type |
CTD ClinVar OMIM |
PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 PMID:28492532 PMID:30792901 More...
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies |
OMIM ClinVar |
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19920853 PMID:21782149 PMID:23463723 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28166811 PMID:28449295 PMID:28492532 PMID:28708303 PMID:30202406 PMID:30945278 PMID:32238909 PMID:32581362 PMID:33955014 More...
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Setd5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Trappc2l |
trafficking protein particle complex subunit 2L |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
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ISO |
ClinVar Annotator: match by term: Keppen-Lubinsky syndrome |
OMIM ClinVar |
PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 |
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NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
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B3gat3 |
beta-1,3-glucuronyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 PMID:24668659 PMID:25326635 PMID:25741868 PMID:25893793 PMID:26633542 PMID:27871226 PMID:28229453 PMID:28492532 PMID:31438591 PMID:31988067 More...
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NCBI chr 1:205,817,374...205,823,928
Ensembl chr 1:205,817,378...205,837,807
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 More...
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Chst3 |
carbohydrate sulfotransferase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:28,114,387...28,152,046
Ensembl chr20:28,114,404...28,121,807
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:25741868 |
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NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Ganab |
glucosidase II alpha subunit |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
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Ints5 |
integrator complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685
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Lrrn4cl |
LRRN4 C-terminal like |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,743,580...205,759,879
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Rom1 |
retinal outer segment membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:20335603 PMID:28492532 |
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NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
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Ubxn1 |
UBX domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,765,212...205,769,236
Ensembl chr 1:205,745,120...205,816,520
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Uqcc3 |
ubiquinol-cytochrome c reductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) |
RGD |
PMID:29602771 |
RGD:41404732 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Gpa33 |
glycoprotein A33 |
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ISO |
mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) |
RGD |
PMID:29602771 |
RGD:41404732 |
NCBI chr13:78,381,141...78,414,765
Ensembl chr13:78,381,141...78,414,765
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human |
RGD |
PMID:29602771 |
RGD:41404732 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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