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 |
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Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 More...
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NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME |
ClinVar |
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:11331612 PMID:12000816 PMID:12393546 PMID:12414898 PMID:12844285 PMID:15642680 PMID:16452184 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:23772956 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28873162 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Alpk1 |
alpha-kinase 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Ap1ar |
adaptor-related protein complex 1 associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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Fam241a |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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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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Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Neurog2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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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 ISS |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 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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Tifa |
TRAF-interacting protein with forkhead-associated domain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
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Zgrf1 |
zinc finger, GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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Maf |
MAF bZIP transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ayme-Gripp syndrome |
OMIM CTD ClinVar |
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 PMID:25741868 PMID:25865493 PMID:28492532 PMID:30659945 PMID:34217267 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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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome |
ClinVar |
PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26467025 PMID:26583190 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:32170967 PMID:33446253 PMID:35005077 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: Baraitser-Winter 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 Ensembl chr 3:105,619,737...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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29261186 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:35005077 PMID:35182466 PMID:35313204 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 Ensembl chr 3:105,619,737...105,624,232
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19548389 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26188271 PMID:26467025 PMID:27240540 PMID:27625340 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:33584783 PMID:33604570 More...
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome |
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 subunit 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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 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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Ube3b |
ubiquitin protein ligase E3B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Flnb |
filamin B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Boomerang dysplasia |
OMIM CTD ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 |
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM CTD 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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Kif15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:28150392 |
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NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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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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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 chr18:74,046,422...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 chr18:73,497,992...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 chr18:73,639,264...73,648,914
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 chr18:74,406,066...74,425,974
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 |
CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome |
OMIM CTD ClinVar RGD |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:34713892 PMID:25434003 PMID:28905882 More...
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RGD:11531484, RGD:155882456 |
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:25741868 PMID:28492532 More...
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NCBI chr 2:53,846,028...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 |
OMIM ClinVar |
PMID:25741868 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 ISS |
DNA:mutations:cds:multiple(human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome DNA:mutation:cds:p.Q241R(mouse) CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 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:16007634 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:17437909 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:19953625 PMID:20008640 PMID:20141835 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21204800 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:22698809 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22876591 PMID:22892241 PMID:22907230 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:23644139 PMID:23680146 PMID:23685455 PMID:23715574 PMID:23756559 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:25754625 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:26795593 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27404270 PMID:27478040 PMID:27480103 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28854169 PMID:28891408 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29493581 PMID:29522538 PMID:29533785 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31277584 PMID:31474318 PMID:31560489 PMID:31779674 PMID:31785789 PMID:31891627 PMID:32005694 PMID:32368696 PMID:32810930 PMID:32978145 PMID:33027564 PMID:33040082 PMID:33128510 PMID:33522658 PMID:33644862 PMID:33683002 PMID:34476331 PMID:34573299 PMID:35524774 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: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:19396835 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 ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD MouseDO 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:19344873 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:29402968 PMID:29493581 PMID:29643386 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 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:19376813 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: CFC syndrome |
CTD ClinVar |
PMID:17703371 PMID:25741868 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:2102266 PMID:2500657 PMID:2851224 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:17314276 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17555829 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:19593635 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:21871821 PMID:22190897 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22538770 PMID:22698809 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23564332 PMID:23644139 PMID:23680146 PMID:23875798 PMID:23907581 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:25155755 PMID:25157968 PMID:25337068 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:28524057 PMID:28650561 PMID:28687512 PMID:28783719 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29522538 PMID:29533785 PMID:29540830 PMID:29907801 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30732632 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:32368696 PMID:33027564 PMID:33040082 PMID:33644862 PMID:33683002 PMID:34113008 PMID:34573299 PMID:35524774 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:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17409930 PMID:17551339 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18628094 PMID:19396835 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:29493581 PMID:29948256 PMID:30732632 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:19344873 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:26343583 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:28495673 PMID:29402968 PMID:29493581 PMID:29753091 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 PMID:33128510 PMID:33482860 PMID:34006472 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 DNA:missense mutation:CDS:p.P128Q (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 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:29625052 PMID:29696744 PMID:29907801 PMID:30050098 PMID:30773290 PMID:32901917 PMID:20358587 More...
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RGD:155791562 |
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:25741868 PMID:32307552 PMID:35451546 |
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NCBI chr 3:105,998,429...106,010,985
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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM CTD ClinVar |
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 |
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NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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G |
Aff4 |
ALF transcription elongation factor 4 |
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ISO |
ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31058441 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 |
Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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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:29758562 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies |
OMIM CTD ClinVar |
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 PMID:28492532 More...
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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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ISO ISS |
ClinVar Annotator: match by term: Coffin-Siris syndrome CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD |
PMID:22426308 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
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: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome |
CTD ClinVar RGD |
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 More...
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
CTD ClinVar |
PMID:18414213 PMID:22426308 PMID:28512736 |
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome |
CTD ClinVar |
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28492532 PMID:28875981 PMID:29758562 PMID:33680622 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 PMID:24933152 PMID:28492532 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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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22426308 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Sox11 |
SRY-box transcription factor 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:25741868 PMID:26543203 |
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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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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:25168959 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
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 ISS |
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES OMIM:135900 ClinVar Annotator: match by term: ARID1B-related BAFopathy | 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 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: 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 MouseDO |
PMID:9536098 PMID:10361086 PMID:15057123 PMID:17576681 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23160955 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24033266 PMID:24674232 PMID:25217958 PMID:25249037 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25473036 PMID:25533962 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26506440 PMID:26822237 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:30349098 PMID:30459321 PMID:30504930 PMID:31132234 PMID:31164752 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34706719 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:15756273 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28166811 PMID:28492532 PMID:28875981 PMID:29758562 PMID:33680622 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 |
Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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G |
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 PMID:35232796 PMID:35887114 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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G |
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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G |
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:28492532 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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G |
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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G |
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:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 PMID:35353340 More...
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
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 PMID:28492532 |
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NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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G |
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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G |
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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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 3 |
ClinVar OMIM |
PMID:9536098 PMID:11161377 PMID:17576681 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 PMID:31759698 PMID:33024572 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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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 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24728327 PMID:25058500 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28875981 PMID:28973083 PMID:29095814 PMID:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31470906 PMID:31530938 PMID:31785789 PMID:32376391 PMID:32686290 PMID:33680622 PMID:35047860 PMID:36474027 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 |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
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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G |
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 PMID:30838730 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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G |
Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 7 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 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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G |
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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G |
Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 |
OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 PMID:31292255 PMID:32860008 PMID:33086258 PMID:33785884 PMID:35341651 PMID:35642566 PMID:35938035 More...
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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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G |
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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G |
Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome |
CTD ClinVar |
PMID:20186812 PMID:25741868 |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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G |
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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G |
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:27976805 PMID:28492532 PMID:31497877 PMID:35699517 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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G |
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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G |
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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G |
Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: PERCHING syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 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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G |
Acbd6 |
acyl-CoA binding domain containing 6 |
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ISO |
ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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G |
Chmp2b |
charged multivesicular body protein 2B |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
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G |
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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G |
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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G |
Lhx4 |
LIM homeobox 4 |
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ISO |
ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003
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G |
Pou1f1 |
POU class 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:27541381 PMID:28492532 PMID:31755341 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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G |
Man2c1 |
mannosidase, alpha, class 2C, member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 |
OMIM ClinVar |
PMID:25741868 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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G |
Neil1 |
nei-like DNA glycosylase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 |
ClinVar |
PMID:25741868 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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G |
Cdk13 |
cyclin-dependent kinase 13 |
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ISO ISS |
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM:617360 CTD Direct Evidence: marker/mechanism DNA:Mutations:cds : DNA:mutations:cds: DNA:mutations: : |
OMIM ClinVar MouseDO CTD RGD |
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:30525188 PMID:30702837 PMID:30904094 PMID:31238879 PMID:31607746 PMID:33004838 PMID:28807008 PMID:29021403 PMID:29393965 PMID:27479907 More...
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RGD:155631312, RGD:155631311, RGD:155641229, RGD:11560583 |
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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G |
Myod1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566 |
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NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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G |
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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G |
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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G |
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 8:54,552,978...54,580,375
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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G |
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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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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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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G |
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:28492532 PMID:33513338 PMID:34782754 |
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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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Jarid2 |
jumonji and AT-rich interaction domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies | ClinVar Annotator: match by term: JARID2-related Neurodevelopmental syndrome |
ClinVar OMIM |
PMID:25741868 PMID:33077894 PMID:35887345 |
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NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
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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:26497905 PMID:26659848 PMID:28135719 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:31618753 PMID:31785789 PMID:32693025 PMID:34059105 More...
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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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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Dph2 |
diphthamide biosynthesis 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 |
ClinVar OMIM |
PMID:25741868 PMID:27421267 PMID:32576952 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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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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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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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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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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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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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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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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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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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...10,607,620
Ensembl chr 4:10,594,907...10,607,606
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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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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...25,406,404
Ensembl chr 8:25,382,273...25,406,414
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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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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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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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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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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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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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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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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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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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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
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bgn |
biglycan |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35234341 |
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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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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Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24571310 |
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NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Bop1 |
BOP1 ribosomal biogenesis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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C1h19orf33 |
similar to human chromosome 19 open reading frame 33 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35142956 |
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NCBI chr 1:84,549,830...84,550,666
Ensembl chr 1:84,549,831...84,550,664
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Cat |
catalase |
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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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Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29103775 |
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NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccne1 |
cyclin E1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19385967 |
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NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35072892 |
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NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cct7 |
chaperonin containing TCP1 subunit 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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Cd274 |
CD274 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27692344 |
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NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd44 |
CD44 molecule (Indian blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd74 |
CD74 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34797429 |
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NCBI chr18:54,256,757...54,266,003
Ensembl chr18:54,256,778...54,266,003
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Cdh1 |
cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19839049 |
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdh2 |
cadherin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23876460 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Cdkl2 |
cyclin dependent kinase like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25333262 |
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NCBI chr14:16,027,381...16,063,257
Ensembl chr14:16,028,363...16,063,252
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Cebpb |
CCAAT/enhancer binding protein beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34973135 |
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NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cga |
glycoprotein hormones, alpha polypeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10566621 |
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NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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Chek2 |
checkpoint kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Clcn3 |
chloride voltage-gated channel 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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Cnpy2 |
canopy FGF signaling regulator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 7:748,877...754,352
Ensembl chr 7:749,008...755,519
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Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30381462 |
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NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Cops7a |
COP9 signalosome subunit 7A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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Cpsf1 |
cleavage and polyadenylation specific factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934
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Crybg1 |
crystallin beta-gamma domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22402438 |
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NCBI chr20:47,425,030...47,496,918
Ensembl chr20:47,426,183...47,621,392
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Csta |
cystatin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20461718 PMID:22287159 |
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NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738331 PMID:29106415 PMID:34019859 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Ctsb |
cathepsin B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsc |
cathepsin C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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Ddb1 |
damage-specific DNA binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
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Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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E2f2 |
E2F transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
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NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
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E2f4 |
E2F transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
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NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
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E2f5 |
E2F transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
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NCBI chr 2:86,997,331...87,012,908
Ensembl chr 2:86,997,332...87,012,990
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E2f7 |
E2F transcription factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
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NCBI chr 7:46,150,533...46,192,739
Ensembl chr 7:46,151,293...46,192,734
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E2f8 |
E2F transcription factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29754146 |
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NCBI chr 1:98,565,717...98,584,265
Ensembl chr 1:98,565,717...98,584,098
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Ednra |
endothelin receptor type A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194819 |
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NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21794976 |
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NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20859196 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ehd1 |
EH-domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35616188 |
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NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
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Epas1 |
endothelial PAS domain protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26735578 |
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NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Epha2 |
Eph receptor A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21479221 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10897039 PMID:21638049 PMID:21750559 |
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NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21638049 |
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NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Esr1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20104649 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esrra |
estrogen related receptor, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34524571 |
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NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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Exosc5 |
exosome component 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Fam168a |
family with sequence similarity 168, member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
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G |
Fam83a |
family with sequence similarity 83, member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34931434 |
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NCBI chr 7:89,522,826...89,547,284
Ensembl chr 7:89,522,826...89,547,388
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Fas |
Fas cell surface death receptor |
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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 |
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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 |
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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 |
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NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
G3bp1 |
G3BP stress granule assembly factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106762 |
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NCBI chr10:39,586,864...39,620,268
Ensembl chr10:39,586,864...39,620,268
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G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29180066 |
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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 |
Hdac3 |
histone deacetylase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34973135 |
|
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34524571 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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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 hikeshi |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 1:143,825,399...143,849,361
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 |
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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 |
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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 |
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 |
Kcnj12 |
potassium inwardly-rectifying channel, subfamily J, member 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34755307 |
|
NCBI chr10:45,696,621...45,745,528
Ensembl chr10:45,696,849...45,745,492
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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 |
Klk1c10 |
kallikrein 1-related peptidase C10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12644816 |
|
NCBI chr 1:94,402,993...94,407,052
Ensembl chr 1:94,402,993...94,407,052
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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...65,344,164
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 chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288
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G |
Loxl3 |
lysyl oxidase-like 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35841383 |
|
NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
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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 |
Mif |
macrophage migration inhibitory factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34797429 |
|
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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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
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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
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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
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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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
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 |
|
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 |
|
NCBI chr20:2,838,174...2,844,260
Ensembl chr20:2,838,030...2,844,260
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G |
Msln |
mesothelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35396937 |
|
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Myb |
MYB proto-oncogene, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
|
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:34510316 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 |
|
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 |
|
NCBI chr14:65,403,930...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 |
|
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 |
|
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...60,621,712
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 |
Nt5e |
5' nucleotidase, ecto |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:34773529 |
|
NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
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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 |
|
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 |
|
NCBI chr 1:230,630,443...230,697,070
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 |
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NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180
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G |
Rac2 |
Rac family small GTPase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35331739 |
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NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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G |
Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
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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 |
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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 |
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NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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G |
Rasal2 |
RAS protein activator like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34826200 |
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NCBI chr13:69,279,882...69,569,161
Ensembl chr13:69,258,622...69,569,940
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G |
Rchy1 |
ring finger and CHY zinc finger domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28191284 |
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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 PMID:34973135 |
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NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Rig1 |
RNA sensor RIG-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20170495 |
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NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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G |
Rnf168 |
ring finger protein 168 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34873829 |
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NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277
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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 |
Rps26 |
ribosomal protein S26 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 7:1,057,332...1,058,882
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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 |
Snx27 |
sorting nexin 27 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36029209 |
|
NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
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G |
Snx5 |
sorting nexin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21364753 |
|
NCBI chr 3:131,621,875...131,641,127
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 |
Sp1 |
Sp1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35072892 |
|
NCBI chr 7:133,541,302...133,571,961
Ensembl chr 7:133,541,491...133,571,961
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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 1:78,672,372...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 chr10:68,272,921...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...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tial1 |
Tia1 cytotoxic granule-associated RNA binding protein-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106762 |
|
NCBI chr 1:183,008,358...183,045,092
Ensembl chr 1:183,009,253...183,031,637
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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 |
|
NCBI chr 5:77,250,942...77,277,364
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 3:149,293,469...149,376,618
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 |
|
NCBI chr10:83,945,731...83,976,874
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 1:205,765,309...205,769,234
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 |
|
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 |
|
NCBI chr 6:127,706,739...127,736,499
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 3:29,214,581...29,344,890
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 |
|
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27444301 |
|
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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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 |
|
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 |
|
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 |
|
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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G |
C1h10orf90 |
similar to human chromosome 10 open reading frame 90 |
|
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 |
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 |
|
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...192,114,593
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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:190,222,857...190,226,657
Ensembl chr 1:190,222,703...190,226,433
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G |
Fuom |
fucose mutarotase |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,689,962...194,738,353
Ensembl chr 1:194,690,135...194,738,362
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G |
Lrrc27 |
leucine rich repeat containing 27 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,919,655...194,928,498
Ensembl chr 1:194,903,273...194,928,504
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G |
Ppp2r2d |
protein phosphatase 2, regulatory subunit B, delta |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 component 2 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Distal 10q deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:194,817,697...194,822,102
Ensembl chr 1:194,817,697...194,822,102
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G |
Lyset |
lysosomal enzyme trafficking factor |
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ISO |
ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type |
ClinVar OMIM |
PMID:33252156 |
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NCBI chr 6:121,884,577...121,886,319
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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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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 |
Aff4 |
ALF transcription elongation factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
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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 |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19935664 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30670789 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614070 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Fibp |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: facial dysmorphism |
ClinVar |
PMID:26660953 |
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NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9207787 PMID:9207788 |
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Msl3 |
MSL complex subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
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NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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G |
Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: facial dysmorphism |
ClinVar |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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G |
Tbce |
tubulin folding cofactor E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
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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 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33547280 |
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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 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies |
OMIM ClinVar |
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30690204 PMID:31608932 More...
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrochondrogenesis |
CTD ClinVar |
PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:28492532 PMID:32427345 PMID:32756486 More...
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar OMIM |
PMID:9536098 PMID:10486316 PMID:16199547 PMID:17236192 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:23922384 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:30245029 PMID:32427345 PMID:32756486 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 2 |
OMIM ClinVar |
PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 PMID:21204229 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:28692176 PMID:30311386 More...
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Ckap2l |
cytoskeleton associated protein 2-like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Filippi syndrome |
OMIM CTD 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
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
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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 |
ClinVar |
PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8988160 PMID:9150726 PMID:9338588 PMID:9399842 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10694921 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12161601 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15598221 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:18435798 PMID:19012347 PMID:19059503 PMID:19161152 PMID:19293843 PMID:19370756 PMID:19396033 PMID:19839986 PMID:20200614 PMID:20301510 PMID:21683322 PMID:21883168 PMID:21895641 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:24033266 PMID:24055113 PMID:24311428 PMID:24564502 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27146836 PMID:27153395 PMID:27245183 PMID:27274304 PMID:27582083 PMID:27906200 PMID:27959697 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28650953 PMID:28655553 PMID:29168297 PMID:29357934 PMID:29543232 PMID:31008308 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31950671 PMID:32123317 PMID:32679894 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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G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO ISS |
OMIM:231050 ClinVar Annotator: match by term: Geleophysic dysplasia 1 |
OMIM MouseDO ClinVar |
PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 PMID:28492532 PMID:30174453 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:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 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:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24339047 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:26017485 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26380986 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29191498 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29620724 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30513137 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31350823 PMID:31605817 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33030311 PMID:33082559 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34006472 PMID:34008892 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34818515 PMID:35253369 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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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 PMID:33082559 |
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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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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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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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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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Adh1c |
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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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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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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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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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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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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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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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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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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Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764155 |
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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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Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35362730 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764155 |
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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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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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...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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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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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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Ercc5 |
ERCC excision repair 5, endonuclease |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34182385 |
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NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Esr1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764155 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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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...83,654,248
Ensembl chr13:83,649,449...83,671,443
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Gatad2a |
GATA zinc finger domain containing 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35362730 |
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NCBI chr16:19,429,578...19,520,320
Ensembl chr16:19,429,578...19,519,587
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764155 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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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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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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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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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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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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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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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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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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Msln |
mesothelin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35396937 |
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NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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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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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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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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Pon1 |
paraoxonase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764155 |
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NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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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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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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RT1-CE16 |
RT1 class I, locus CE16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3459889 |
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NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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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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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764155 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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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...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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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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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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Zfp148 |
zinc finger protein 148 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
OMIM CTD 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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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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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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Kmt2a |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5519603 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25574841 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28120103 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29203834 PMID:29255178 PMID:29453417 PMID:29574747 PMID:30305169 PMID:30549396 PMID:31157197 PMID:31337854 PMID:32860008 PMID:33004838 More...
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NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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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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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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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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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 without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | 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:7296942 PMID:8898652 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:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 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:23559152 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:26171675 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:30210120 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30921096 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33824467 PMID:36194927 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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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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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
susceptibility |
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 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
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, coarse facies, and early death |
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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Abat |
4-aminobutyrate aminotransferase |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Carhsp1 |
calcium regulated heat stable protein 1 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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Mettl22 |
methyltransferase 22, Kin17 lysine |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:7,113,602...7,130,715
Ensembl chr10:7,113,660...7,130,654
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Pmm2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Tmem114 |
transmembrane protein 114 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:7,168,998...7,185,251
Ensembl chr10:7,169,746...7,185,251
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Tmem186 |
transmembrane protein 186 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome |
ClinVar |
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NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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Usp7 |
ubiquitin specific peptidase 7 |
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ISO |
ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:25741868 PMID:26365382 PMID:28492532 PMID:30679821 |
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NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
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Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 |
OMIM CTD 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 chr13:29,946,882...30,163,589
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 |
OMIM ClinVar |
PMID:19020503 PMID:25741868 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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Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:25741868 |
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NCBI chr15:100,398,583...100,741,243
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 |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 More...
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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 |
CTD Direct Evidence: marker/mechanism 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 CTD ClinVar RGD |
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29168298 PMID:29610177 PMID:30167850 PMID:30293248 PMID:24075186 PMID:23749988 More...
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RGD:12914762, RGD:12911215 |
NCBI chr15:100,398,583...100,741,243
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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 PMID:28708303 PMID:29430593 PMID:30167850 PMID:30771478 PMID:31130284 PMID:31607746 PMID:31785789 PMID:31839005 PMID:32712949 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:27275012 PMID:28492532 PMID:29283439 PMID:30103036 PMID:30542205 PMID:30577886 PMID:31618753 PMID:32576985 PMID:32860008 PMID:34298581 More...
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NCBI chr 2:221,175,749...221,348,058
Ensembl chr 2:221,175,785...221,348,126
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Pdzd8 |
PDZ domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies |
ClinVar OMIM |
PMID:35227461 |
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NCBI chr 1:258,449,218...258,506,828
Ensembl chr 1:258,449,218...258,506,828
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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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Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28691247 PMID:30057029 PMID:30679813 PMID:34505148 More...
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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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Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
OMIM CTD ClinVar |
PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 PMID:32652122 More...
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NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Rpl10l1 |
ribosomal protein L10 like 1 |
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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...84,545,791
Ensembl chr 6:84,543,540...84,545,816
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Otud6b |
OTU deubiquitinase 6B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
OMIM CTD ClinVar |
PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 PMID:32924626 More...
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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 |
PMID:25741868 |
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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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