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: | vascular hemostatic disease |
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Accession: | DOID:484
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browse the term
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Definition: | Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. |
Synonyms: | exact_synonym: | Hemostatic Disorder; Hemostatic Disorders; Vascular Hemostatic Disorder; Vascular Hemostatic Disorders |
| primary_id: | MESH:D020141; RDO:0005300 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 |
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NCBI chr19:67,190,901...67,232,569
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301
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Zfp469 |
zinc finger protein 469 |
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ISO ISS |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition OMIM:229200 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28518168 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32461654 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 More...
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NCBI chr19:67,190,901...67,232,569
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 | ClinVar Annotator: match by term: PRDM5-related condition |
OMIM ClinVar |
PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:31829210 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301
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Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:30,056,738...30,192,606
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Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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Ccm2 |
CCM2 scaffold protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation |
CTD ClinVar |
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 |
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Cyp51 |
cytochrome P450, family 51 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
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Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17187287 PMID:17211633 PMID:17277691 PMID:17440989 PMID:17562932 PMID:17576681 PMID:18060436 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:20798775 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:23828392 PMID:24007869 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34558799 PMID:34634677 PMID:34964173 PMID:36629374 PMID:14755725 PMID:15079030 More...
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RGD:1358458, RGD:1598379 |
NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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Lrrd1 |
leucine-rich repeats and death domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:31,219,573...31,247,702
Ensembl chr 4:30,264,862...30,293,173
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Mterf1 |
mitochondrial transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:31,181,048...31,188,130
Ensembl chr 4:30,226,343...30,233,584
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Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
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NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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Pten |
phosphatase and tensin homolog |
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ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:162,645,209...162,731,737
Ensembl chr 2:160,346,758...160,433,135
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Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders | ClinVar Annotator: match by term: KRIT1-related condition |
OMIM ClinVar |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:16571644 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25741868 PMID:26467025 PMID:26682556 PMID:28492532 PMID:28645800 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31254430 PMID:33911302 PMID:34634677 PMID:34964173 More...
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NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Ptgis |
prostaglandin I2 synthase |
exacerbates |
ISO |
DNA:silent mutation:CDS:p.L256L (rs5628) (human) |
RGD |
PMID:26795600 |
RGD:401960081 |
NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451
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Ccm2 |
CCM2 scaffold protein |
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ISO ISS |
ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:29758562 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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Pdcd10 |
programmed cell death 10 |
onset exacerbates |
ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25640679 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
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RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 |
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
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NCBI chr 2:162,645,209...162,731,737
Ensembl chr 2:160,346,758...160,433,135
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 4 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Map3k3 |
mitogen activated protein kinase kinase kinase 3 |
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ISO |
ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC |
OMIM ClinVar |
PMID:25741868 PMID:33729480 PMID:33891857 |
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NCBI chr10:91,020,174...91,088,852
Ensembl chr10:91,020,174...91,088,848
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 |
OMIM ClinVar |
PMID:1770532 PMID:2037280 PMID:2794057 PMID:2894346 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8100856 PMID:8218237 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:11113887 PMID:11317364 PMID:12362985 PMID:15024745 PMID:15241796 PMID:15728585 PMID:15741671 PMID:16199547 PMID:16407265 PMID:16786509 PMID:17078022 PMID:17206620 PMID:17211858 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19491628 PMID:19637253 PMID:20981092 PMID:21594610 PMID:21667357 PMID:22206639 PMID:22565191 PMID:22589248 PMID:22753364 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24486247 PMID:24668929 PMID:24767406 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:26799614 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28725987 PMID:29150909 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:34902613 More...
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NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 PMID:10694924 PMID:10982177 PMID:11288717 PMID:11317364 PMID:16705691 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18311573 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22589248 PMID:22753364 PMID:23692737 PMID:25146735 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:27056980 PMID:27510842 PMID:28378289 PMID:28492532 PMID:29150909 PMID:30715774 PMID:30821104 PMID:31141158 PMID:31794058 PMID:34422331 More...
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NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
ISO |
associated with hepatitis C;DNA:SNP: :3435C>T(human) |
RGD |
PMID:28453396 |
RGD:14700902 |
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Cd86 |
CD86 molecule |
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ISO |
associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) |
RGD |
PMID:23840845 |
RGD:11354974 |
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
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Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
associated with hepatitis C; protein:increased expression:serum |
RGD |
PMID:18775023 |
RGD:27095893 |
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
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Ifnl3 |
interferon, lambda 3 |
susceptibility severity |
ISO |
associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) |
RGD |
PMID:24293567 PMID:24293567 |
RGD:11528546, RGD:11528546 |
NCBI chr 1:92,941,988...92,943,628
Ensembl chr 1:83,814,564...83,816,096
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Tcn2 |
transcobalamin 2 |
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ISO |
associated with Glomerulonephritis;protein:increased expression:serum: |
RGD |
PMID:3574578 |
RGD:11060121 |
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:19860001 |
RGD:10450529 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tslp |
thymic stromal lymphopoietin |
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ISS |
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MouseDO |
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NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,449,844...24,453,548
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Aicda |
activation-induced cytidine deaminase |
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ISO |
associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) |
RGD |
PMID:26219420 |
RGD:30296664 |
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972
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Tslp |
thymic stromal lymphopoietin |
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ISO |
associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) |
RGD |
PMID:25889007 |
RGD:38596329 |
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,449,844...24,453,548
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Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
RGD ClinVar |
PMID:10417273 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 PMID:29843651 More...
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RGD:1598739 |
NCBI chr10:35,422,030...35,627,483
Ensembl chr10:34,921,049...35,123,821
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Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 PMID:25741868 PMID:28492532 More...
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NCBI chr X:75,159,635...75,267,094
Ensembl chr X:71,094,202...71,198,354
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
susceptibility |
ISO |
DNA:transition:exon;808C>T ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862 PMID:10473568 |
RGD:1599433 |
NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
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NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:157,412,692...157,423,484
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:105,916,466...105,918,548
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO ISS |
DNA:transition mutation:splice junction: ClinVar Annotator: match by term: Ehlers-Danlos syndrome OMIM:225400 |
ClinVar MouseDO RGD |
PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 PMID:8456808 PMID:8799376 PMID:9016532 PMID:9536098 PMID:10739762 PMID:11090261 PMID:11317364 PMID:11432962 PMID:15741671 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:19550437 PMID:19751715 PMID:20696291 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22753364 PMID:23265383 PMID:23587214 PMID:24147872 PMID:24668929 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:25983617 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27011056 PMID:27380894 PMID:27510842 PMID:27519266 PMID:28102596 PMID:28492532 PMID:28748566 PMID:29543232 PMID:29946973 PMID:30665703 PMID:30715774 PMID:30886339 PMID:31299979 PMID:31584903 PMID:32166892 PMID:32981126 PMID:33939306 PMID:34422331 PMID:34426522 PMID:35128800 PMID:24443344 More...
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RGD:11571617 |
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 PMID:3049731 PMID:3372533 PMID:3383844 PMID:3621666 PMID:3733683 PMID:4795106 PMID:6092353 PMID:7695699 PMID:7864655 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9536098 PMID:11288717 PMID:15077201 PMID:16199547 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22206639 PMID:24033266 PMID:24501682 PMID:25741868 PMID:25944380 PMID:26138843 PMID:26402641 PMID:26467025 PMID:27056980 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28346524 PMID:28492532 PMID:28498836 PMID:28810924 PMID:29499418 PMID:31039433 PMID:31794058 PMID:33070251 PMID:35723357 PMID:35909573 PMID:36896471 PMID:37270749 PMID:15077201 More...
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RGD:1581198 |
NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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Col3a1 |
collagen type III alpha 1 chain |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Ehlers-Danlos syndrome CTD Direct Evidence: marker/mechanism DNA:deletion:exon DNA:deletion:promoter, exons, introns |
ClinVar CTD RGD |
PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 PMID:18272325 PMID:19424605 PMID:20301667 PMID:21086191 PMID:21984974 PMID:22001912 PMID:22019127 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24922459 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:27011056 PMID:27888582 PMID:27964749 PMID:28492532 PMID:28748566 PMID:29192238 PMID:29346445 PMID:30115950 PMID:30374176 PMID:30474650 PMID:30837697 PMID:31141158 PMID:33087929 PMID:36977837 PMID:10706896 PMID:1370809 PMID:21071432 PMID:16012458 More...
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RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 |
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome DNA:repeat:intron:IVS17 (human) |
ClinVar RGD |
PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:16199547 PMID:16431952 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28074886 PMID:28485813 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30675029 PMID:30858776 PMID:31064749 PMID:31829210 PMID:32508047 PMID:32938213 PMID:33206719 PMID:33737726 PMID:33914963 PMID:34150014 PMID:34265140 PMID:35128800 PMID:35396906 PMID:35723357 PMID:35982159 PMID:36973604 PMID:37427422 PMID:12145749 PMID:11278977 PMID:10777716 PMID:8752669 More...
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RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 |
NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
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Col5a2 |
collagen type V alpha 2 chain |
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ISO |
EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 PMID:9425231 More...
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RGD:734809 |
NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Dcn |
decorin |
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ISS |
OMIM:225400 |
MouseDO |
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NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:26,661,326...26,740,011
Ensembl chr20:26,118,196...26,196,992
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:26038974 PMID:26257771 PMID:27854218 PMID:28492532 PMID:28831199 PMID:31096651 PMID:33435129 More...
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976
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Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31428121 PMID:33587123 |
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NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:83,705,652...83,721,528
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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G |
Lox |
lysyl oxidase |
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ISO |
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RGD |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:48,162,889...48,175,640
Ensembl chr18:45,967,343...46,041,477
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISS ISO |
OMIM:225400 ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
MouseDO ClinVar |
PMID:1345174 PMID:3931636 PMID:8533783 PMID:9152832 PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 PMID:10729709 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:16758144 PMID:17576681 PMID:21699693 PMID:25326635 PMID:25741868 PMID:28306225 PMID:28492532 PMID:32746767 PMID:33190788 More...
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NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:158,340,490...158,367,620
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:21664999 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G74D (human) |
ClinVar CTD RGD |
PMID:18985159 PMID:25741868 PMID:28492532 PMID:18985159 PMID:18985159 |
RGD:11553861, RGD:11553861 |
NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:77,037,565...77,049,226
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Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 PMID:25644172 PMID:25741868 PMID:25944730 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29717556 PMID:30661052 PMID:30787465 PMID:32154675 PMID:36495030 More...
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NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:24399159 |
RGD:11073604 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29543232 More...
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NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 PMID:24033266 PMID:24055113 PMID:25116393 PMID:25260786 PMID:25504618 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25907466 PMID:25985138 PMID:26017485 PMID:27011056 PMID:27153395 PMID:27647783 PMID:27879313 PMID:28492532 PMID:28550590 PMID:28655553 PMID:36937954 More...
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:8246946 PMID:9395234 PMID:9590282 PMID:11212236 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17935258 PMID:18781618 PMID:21251594 PMID:21524434 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 PMID:32560555 More...
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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G |
Thbs2 |
thrombospondin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:38433265 |
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NCBI chr 1:64,343,523...64,372,918
Ensembl chr 1:55,670,394...55,699,789
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:15733269 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24033266 PMID:24088041 PMID:25047945 PMID:25326637 PMID:25333069 PMID:25741868 PMID:26075496 PMID:26193622 PMID:26257771 PMID:26275793 PMID:26408188 PMID:26633545 PMID:26662719 PMID:27297501 PMID:27796757 PMID:28492532 PMID:28518168 PMID:29590070 PMID:30975432 PMID:31141158 PMID:31702543 PMID:32164334 PMID:32214361 PMID:32461654 PMID:33057194 PMID:33482002 PMID:35807105 PMID:35982159 PMID:37895187 PMID:11642233 More...
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RGD:1599494 |
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28518168 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32461654 PMID:32671420 PMID:33739556 PMID:33816482 PMID:34368841 More...
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NCBI chr19:67,190,901...67,232,569
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G |
Alb |
albumin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type |
ClinVar |
PMID:2404284 PMID:8347685 |
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NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:2794057 PMID:2894346 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8100856 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24486247 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25436829 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:32235935 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34902613 PMID:9295084 More...
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RGD:734803 |
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25441681 PMID:25741868 PMID:28492532 PMID:31414283 PMID:31794058 PMID:33110269 PMID:36896471 PMID:37079061 More...
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NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar |
PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:17576681 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28492532 PMID:29924831 PMID:30858776 PMID:32508047 PMID:33737726 PMID:35723357 More...
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 PMID:28492532 PMID:30467950 PMID:31903434 PMID:33161638 More...
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NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25741868 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 More...
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NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
OMIM ClinVar |
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:4795106 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8071956 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10807697 PMID:10976985 PMID:11288717 PMID:11317364 PMID:12362985 PMID:15077201 PMID:15172002 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19344236 PMID:20301472 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23158907 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:27056980 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28518168 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:30715774 PMID:30821104 PMID:30984112 PMID:31218159 PMID:31319225 PMID:31414283 PMID:31429852 PMID:31447884 PMID:32123938 PMID:32166892 PMID:32461654 PMID:32659730 PMID:33070251 PMID:33939306 PMID:34317605 PMID:34422331 PMID:35052464 PMID:35723357 PMID:35909573 PMID:36951356 PMID:37270749 More...
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NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form |
ClinVar |
PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:2794057 PMID:2894346 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8100856 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24486247 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:32235935 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34902613 More...
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NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9536098 PMID:9594376 PMID:12362985 PMID:15077201 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:19344236 PMID:20301472 PMID:21520333 PMID:22589248 PMID:22753364 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27519266 PMID:28492532 PMID:29150909 PMID:30821104 PMID:31218159 PMID:31414283 PMID:31794058 PMID:32166892 PMID:32659730 PMID:33110269 PMID:33939306 PMID:35052464 PMID:36896471 PMID:36951356 PMID:37079061 More...
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NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:30,560,172...30,604,758
Ensembl chr 3:10,162,096...10,191,423
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:10,300,028...10,346,687
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:10,404,626...10,434,554
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G |
Aebp1 |
AE binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:25741868 PMID:30759870 |
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NCBI chr14:84,951,577...84,962,840
Ensembl chr14:80,738,892...80,748,877
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G |
Ak8 |
adenylate kinase 8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:32,426,892...32,542,432
Ensembl chr 3:12,028,954...12,144,465
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G |
Barhl1 |
BarH-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:32,639,283...32,646,605
Ensembl chr 3:12,241,327...12,248,649
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G |
Brd3 |
bromodomain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:31,173,332...31,227,749
Ensembl chr 3:10,775,272...10,829,577
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G |
Cacfd1 |
calcium channel flower domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:30,733,958...30,750,237
Ensembl chr 3:10,335,881...10,343,406
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:9,171,815...9,180,237
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G |
Casd1 |
CAS1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 4:33,613,805...33,705,821
Ensembl chr 4:32,658,748...32,739,202
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G |
Cel |
carboxyl ester lipase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:32,281,518...32,289,019
Ensembl chr 3:11,883,532...11,891,035
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G |
Cfap77 |
cilia and flagella associated protein 77 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:32,656,410...32,779,261
Ensembl chr 3:12,258,453...12,381,319
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
ClinVar |
PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 More...
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NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
ClinVar |
PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 PMID:2454224 PMID:2777808 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:4795106 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:7959683 PMID:8071956 PMID:8081389 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9099837 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:11836364 PMID:12362985 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:19594296 PMID:20301472 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24342908 PMID:24501682 PMID:24668929 PMID:24863959 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28518168 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29499418 PMID:29595812 PMID:29620724 PMID:29656858 PMID:29807018 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31193991 PMID:31218159 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31566912 PMID:31794058 PMID:32166892 PMID:32461654 PMID:32659730 PMID:32667677 PMID:33070251 PMID:33110269 PMID:33939306 PMID:34317605 PMID:34422331 PMID:35052464 PMID:35154279 PMID:35723357 PMID:35830949 PMID:35909573 PMID:36896471 PMID:36900016 PMID:36951356 PMID:37079061 PMID:37270749 PMID:37810882 PMID:38346409 More...
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NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:9783710 PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 More...
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NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 OMIM:130000 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
CTD ClinVar MouseDO OMIM |
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9536098 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:16199547 PMID:16431952 PMID:16751282 PMID:17576681 PMID:18972565 PMID:19011090 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20301422 PMID:20308875 PMID:20635400 PMID:20979576 PMID:21541907 PMID:21611149 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26188975 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:27959697 PMID:27975164 PMID:28074886 PMID:28166811 PMID:28306229 PMID:28454995 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28714197 PMID:28748566 PMID:28914264 PMID:29578302 PMID:29907982 PMID:29924831 PMID:30467950 PMID:30675029 PMID:30858776 PMID:31064749 PMID:31141158 PMID:31239369 PMID:31625567 PMID:31660461 PMID:31829210 PMID:31903434 PMID:32467296 PMID:32508047 PMID:32581362 PMID:32720758 PMID:32766464 PMID:32938213 PMID:33161638 PMID:33206719 PMID:33656776 PMID:33726816 PMID:33737726 PMID:33834621 PMID:33914963 PMID:34041919 PMID:34150014 PMID:34265140 PMID:34422331 PMID:35128800 PMID:35396906 PMID:35599849 PMID:35723357 PMID:35982159 PMID:36411388 PMID:36973604 PMID:37079061 PMID:37427422 More...
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISS ISO |
OMIM:130000 ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
MouseDO ClinVar |
PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710 PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:19344236 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:26188975 PMID:26608033 PMID:27011056 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31517854 PMID:31538843 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32235935 PMID:32381727 PMID:32736638 PMID:33161638 PMID:33834621 PMID:33974636 PMID:34265140 PMID:35128800 PMID:37079061 More...
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NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Dbh |
dopamine beta-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248
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G |
Ddx31 |
DEAD-box helicase 31 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:32,570,725...32,635,446
Ensembl chr 3:12,172,836...12,238,873
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:29,568,041...29,569,937
Ensembl chr 3:9,169,793...9,180,551
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:9,200,967...9,207,688
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G |
Fam163b |
family with sequence similarity 163, member B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,834,145...30,865,802
Ensembl chr 3:10,437,383...10,466,458
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|
G |
Fcnb |
ficolin B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:31,791,750...31,800,188
Ensembl chr 3:11,393,739...11,402,151
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|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
|
|
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
|
|
G |
Gbgt1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,219,370...32,227,737
|
|
G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942
|
|
G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,026,023...29,037,010
Ensembl chr 3:8,627,911...8,636,335
|
|
G |
Gpsm1 |
G-protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:9,128,636...9,167,827
|
|
G |
Gtf3c4 |
general transcription factor IIIC subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,552,773...32,570,705
Ensembl chr 3:12,154,805...12,172,725
|
|
G |
Gtf3c5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,291,851...32,312,188
Ensembl chr 3:11,893,875...11,914,180
|
|
G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:9,216,776...9,229,450
|
|
G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:8,682,113...8,736,667
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|
G |
Lcn1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,930,943...29,935,418
Ensembl chr 3:9,532,915...9,536,577
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|
G |
Lcn9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,041,710...29,050,677
Ensembl chr 3:8,636,548...8,652,200
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|
G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:9,027,425...9,034,480
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|
G |
Lum |
lumican |
|
ISS |
OMIM:130000 |
MouseDO |
|
|
NCBI chr 7:34,245,323...34,252,510
Ensembl chr 7:32,358,614...32,365,793
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|
G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
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|
G |
Med22 |
mediator complex subunit 22 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,631,829...30,636,911
Ensembl chr 3:10,233,754...10,238,836
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|
G |
Med27 |
mediator complex subunit 27 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:33,027,240...33,201,240
Ensembl chr 3:12,629,603...12,803,339
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|
G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:32,201,037...32,204,317
Ensembl chr 3:11,801,310...11,806,313
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|
G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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|
G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:10,388,361...10,397,343
|
|
G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:8,883,065...8,946,660
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|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
|
|
G |
Ntng2 |
netrin G2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:12,492,639...12,545,890
|
|
G |
Obp2a |
odorant binding protein 2A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:28,904,024...28,907,391
Ensembl chr 3:8,505,990...8,509,269
|
|
G |
Obp2b |
odorant binding protein 2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:28,960,375...28,983,394
Ensembl chr 3:8,582,074...8,585,258
|
|
G |
Olfm1 |
olfactomedin 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:31,918,512...31,956,261
Ensembl chr 3:11,520,729...11,558,239
|
|
G |
Paep |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:28,929,252...28,932,592
Ensembl chr 3:8,531,138...8,534,430
|
|
G |
Pierce1 |
piercer of microtubule wall 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:32,195,024...32,201,111
Ensembl chr 3:11,797,031...11,801,568
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|
G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:9,207,717...9,216,844
|
|
G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581
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|
G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:32,179,686...32,188,069
Ensembl chr 3:11,781,295...11,790,073
|
|
G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,433,091...29,462,739
Ensembl chr 3:9,034,994...9,064,664
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|
G |
Ralgds |
ral guanine nucleotide dissociation stimulator |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,237,644...32,278,045
Ensembl chr 3:11,839,416...11,880,059
|
|
G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:33,296,211...33,414,119
Ensembl chr 3:12,898,266...13,013,984
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|
G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,678,729...30,692,376
Ensembl chr 3:10,280,654...10,290,996
|
|
G |
Rnu6atac |
RNA, U6atac small nuclear |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:214,235,383...214,235,512
Ensembl chr 2:211,550,817...211,550,946
|
|
G |
Rpl7a |
ribosomal protein L7A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,637,136...30,639,778
Ensembl chr 3:10,239,001...10,241,716 Ensembl chr18:10,239,001...10,241,716
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|
G |
Rxra |
retinoid X receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:10,989,832...11,073,712
|
|
G |
Sardh |
sarcosine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,908,621...30,973,409
Ensembl chr 3:10,510,553...10,573,874
|
|
G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,627,779...29,662,925
Ensembl chr 3:9,229,687...9,264,273
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803
|
|
G |
Sgce |
sarcoglycan, epsilon |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:33,738,066...33,808,907
Ensembl chr 4:32,771,477...32,842,254
|
|
G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:154,240,391...154,252,690
|
|
G |
Slc2a6 |
solute carrier family 2 member 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,746,472...30,753,287
Ensembl chr 3:10,348,395...10,355,208
|
|
G |
Slc40a1 |
solute carrier family 40 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
|
NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:48,033,526...48,051,481
|
|
G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:9,182,067...9,199,518
|
|
G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,061,267...29,065,588
Ensembl chr 3:8,663,318...8,667,388
|
|
G |
Spaca9 |
sperm acrosome associated 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,417,350...32,426,776
Ensembl chr 3:12,019,363...12,029,119
|
|
G |
Stkld1 |
serine/threonine kinase-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,659,659...30,678,650
Ensembl chr 3:10,261,828...10,280,566
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,639,868...30,642,759
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Surf2 |
surfeit 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,642,735...30,648,525
Ensembl chr 3:10,244,654...10,250,077
|
|
G |
Surf4 |
surfeit 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,646,435...30,659,641
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Surf6 |
surfeit 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,619,525...30,630,388
Ensembl chr 3:10,221,452...10,232,251
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:30675029 |
|
NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
|
|
G |
Tmem250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:8,962,657...8,966,349
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
|
|
G |
Ttf1 |
transcription termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,782,544...32,807,202
Ensembl chr 3:12,384,655...12,409,257
|
|
G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,223,582...29,246,216
Ensembl chr 3:8,825,447...8,848,028
|
|
G |
Uck1 |
uridine-cytidine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:35,936,328...35,942,213
Ensembl chr 3:15,538,591...15,544,465
|
|
G |
Vav2 |
vav guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,982,754...31,152,116
Ensembl chr 3:10,584,688...10,754,052
|
|
G |
Wdr5 |
WD repeat domain 5 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:31,233,048...31,254,730
Ensembl chr 3:10,837,025...10,856,671
|
|
G |
Wdr75 |
WD repeat domain 75 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
|
NCBI chr 9:55,395,232...55,425,412
Ensembl chr 9:47,903,200...47,933,399
|
|
|
G |
Aebp1 |
AE binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 |
ClinVar |
|
|
NCBI chr14:84,951,577...84,962,840
Ensembl chr14:80,738,892...80,748,877
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II |
ClinVar |
PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21912751 PMID:22206639 PMID:22589248 PMID:23227268 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31794058 PMID:32659730 PMID:32667677 PMID:34422331 More...
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NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 |
CTD ClinVar |
PMID:8752669 PMID:9042913 PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 PMID:32720758 PMID:32938213 PMID:33161638 More...
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
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Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 |
OMIM ClinVar |
PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28492532 PMID:28550590 PMID:30467950 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32381727 PMID:33161638 PMID:33974636 PMID:37079061 More...
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NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Tnxb |
tenascin XB |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 1 | ClinVar Annotator: match by term: TNX deficiency |
CTD ClinVar OMIM |
PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20853426 PMID:23284009 PMID:23555315 PMID:23620400 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25333069 PMID:25741868 PMID:25793578 PMID:26075496 PMID:26193622 PMID:26257771 PMID:26408188 PMID:26633545 PMID:26662719 PMID:27297501 PMID:27582382 PMID:27796757 PMID:28344932 PMID:28492532 PMID:28518168 PMID:29734195 PMID:29970176 PMID:30115950 PMID:31141158 PMID:31229653 PMID:31702543 PMID:31731524 PMID:31775249 PMID:32164334 PMID:32214361 PMID:32461654 PMID:32572181 PMID:33332743 PMID:33482002 PMID:35000503 PMID:35807105 PMID:35903967 PMID:35918752 PMID:37895187 More...
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Aebp1 |
AE binding protein 1 |
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ISO |
ClinVar Annotator: match by term: AEBP1-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 PMID:30548383 PMID:33144682 More...
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NCBI chr14:84,951,577...84,962,840
Ensembl chr14:80,738,892...80,748,877
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Thbs2 |
thrombospondin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 3 |
ClinVar |
PMID:25741868 PMID:38433265 |
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NCBI chr 1:64,343,523...64,372,918
Ensembl chr 1:55,670,394...55,699,789
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Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
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ISO |
ClinVar Annotator: match by term: ADAMTS2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type CTD Direct Evidence: marker/mechanism DNA:deletions: : |
OMIM ClinVar CTD RGD |
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 PMID:10417273 PMID:15373769 PMID:15389701 PMID:16199547 PMID:16770806 PMID:17090394 PMID:17576681 PMID:18973246 PMID:21567906 PMID:22863189 PMID:23495203 PMID:23599694 PMID:23913520 PMID:24819041 PMID:25640679 PMID:25741868 PMID:26582918 PMID:26765342 PMID:28128410 PMID:28306225 PMID:28346524 PMID:28492532 PMID:29843651 PMID:33389145 PMID:15373769 More...
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RGD:1598738 |
NCBI chr10:35,422,030...35,627,483
Ensembl chr10:34,921,049...35,123,821
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Arl10 |
ARF like GTPase 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,035,320...10,043,732
Ensembl chr17:10,030,213...10,038,703
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573
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Canx |
calnexin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,124,941...35,157,954
Ensembl chr10:34,625,191...34,656,821
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Cby3 |
chibby family member 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,179,316...35,183,834
Ensembl chr10:34,677,770...34,682,784
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Cdhr2 |
cadherin-related family member 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,881,979...9,917,698
Ensembl chr17:9,876,860...9,912,575
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G |
Clk4 |
CDC-like kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,024,364...36,042,366
Ensembl chr10:35,524,755...35,541,352
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Cltb |
clathrin, light chain B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,006,416...10,024,278
Ensembl chr17:10,001,513...10,019,169
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G |
Col23a1 |
collagen type XXIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,050,327...36,337,279
Ensembl chr10:35,549,113...35,836,314
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G |
Cplx2 |
complexin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,224,673...10,297,974
Ensembl chr17:10,222,347...10,293,855
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Dbn1 |
drebrin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,155,729...9,170,121
Ensembl chr17:9,150,659...9,164,984
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Ddx41 |
DEAD-box helicase 41 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415
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Dok3 |
docking protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,114,763...9,121,781
Ensembl chr17:9,109,597...9,115,188
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G |
Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,835,883...9,868,781
Ensembl chr17:9,832,230...9,835,137
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F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530
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Faf2 |
Fas associated factor family member 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,952,329...9,994,596
Ensembl chr17:9,947,220...9,989,485
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Fam193b |
family with sequence similarity 193, member B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,071,974...9,104,659
Ensembl chr17:9,066,707...9,099,508
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Fgfr4 |
fibroblast growth factor receptor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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Gprin1 |
G protein-regulated inducer of neurite outgrowth 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,869,009...9,881,958
Ensembl chr17:9,863,571...9,876,915
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G |
Grk6 |
G protein-coupled receptor kinase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,182,160...9,198,380
Ensembl chr17:9,177,019...9,192,644
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Grm6 |
glutamate metabotropic receptor 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,167,985...35,182,717
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G |
Higd2a |
HIG1 hypoxia inducible domain family, member 2A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,026,961...10,027,885
Ensembl chr17:10,021,859...10,022,796
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G |
Hk3 |
hexokinase 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,602,119...9,620,038
Ensembl chr17:9,599,865...9,614,863
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Hnrnpab |
heterogeneous nuclear ribonucleoprotein A/B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,358,004...36,363,898
Ensembl chr10:35,857,041...35,863,344
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G |
Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,187,412...35,203,909
Ensembl chr10:34,693,555...34,702,846
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G |
Kiaa1191 |
KIAA1191 homolog |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,054,249...10,066,922
Ensembl chr17:10,049,160...10,061,819
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G |
Lman2 |
lectin, mannose-binding 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,274,362...9,294,950
Ensembl chr17:9,269,022...9,287,265
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G |
Ltc4s |
leukotriene C4 synthase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,060,002...35,066,466
Ensembl chr10:34,560,360...34,562,651
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G |
Maml1 |
mastermind-like transcriptional coactivator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,089,715...35,124,100
Ensembl chr10:34,588,646...34,623,338
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G |
Mgat4b |
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,049,421...35,060,307
Ensembl chr10:34,549,433...34,559,229
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G |
Mxd3 |
Max dimerization protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,306,552...9,310,278
Ensembl chr17:9,301,399...9,305,157
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G |
N4bp3 |
Nedd4 binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,400,053...36,407,609
Ensembl chr10:35,899,096...35,907,001
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G |
Nhp2 |
NHP2 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,378,020...36,381,362
Ensembl chr10:35,877,054...35,882,545
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G |
Nop16 |
NOP16 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,028,058...10,032,975
Ensembl chr17:10,022,932...10,027,867
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,315,237...9,425,358
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G |
Pdlim7 |
PDZ and LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,129,603...9,144,956
Ensembl chr17:9,124,649...9,139,811
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G |
Pfn3 |
profilin 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,222,729...9,223,256
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G |
Phykpl |
5-phosphohydroxy-L-lysine phospho-lyase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,340,905...36,372,555
Ensembl chr10:35,839,983...35,859,508
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G |
Prelid1 |
PRELI domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,310,471...9,313,511
Ensembl chr17:9,305,361...9,308,407
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G |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,772,968...35,775,443
Ensembl chr10:35,271,973...35,274,434
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G |
Prr7 |
proline rich 7 (synaptic) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,170,405...9,178,814
Ensembl chr17:9,165,269...9,172,536
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G |
Rab24 |
RAB24, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,313,593...9,315,675
Ensembl chr17:9,308,525...9,310,553
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G |
Rgs14 |
regulator of G-protein signaling 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,254,112...9,268,233
Ensembl chr17:9,249,019...9,263,104
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G |
Rmnd5b |
required for meiotic nuclear division 5 homolog B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:36,382,212...36,394,801
Ensembl chr10:35,881,268...35,892,265
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G |
Rnf44 |
ring finger protein 44 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,925,100...9,939,496
Ensembl chr17:9,919,993...9,932,193
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G |
Rufy1 |
RUN and FYVE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,206,801...35,251,696
Ensembl chr10:34,705,741...34,750,644
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G |
Simc1 |
SUMO-interacting motifs containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,066,855...10,112,010
Ensembl chr17:10,061,757...10,106,910
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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G |
Sncb |
synuclein, beta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012
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G |
Spata31d1c |
SPATA31 subfamily D member 1C |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:165,187...189,019
Ensembl chr17:159,398...164,270
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G |
Sqstm1 |
sequestosome 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673
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G |
Thoc3 |
THO complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:10,148,281...10,157,472
Ensembl chr17:10,143,139...10,152,370
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G |
Tmed9 |
transmembrane p24 trafficking protein 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,034,797...9,039,311
Ensembl chr17:9,029,646...9,034,176
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G |
Tspan17 |
tetraspanin 17 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,824,353...9,831,985
Ensembl chr17:9,819,202...9,826,834
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G |
Uimc1 |
ubiquitin interaction motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,528,923...9,597,967
Ensembl chr17:9,527,794...9,592,799
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G |
Unc5a |
unc-5 netrin receptor A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,620,005...9,675,794
Ensembl chr17:9,614,838...9,670,526
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G |
Zfp2 |
zinc finger protein 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,701,303...35,729,861
Ensembl chr10:35,207,260...35,228,853
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G |
Zfp346 |
zinc finger protein 346 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr17:9,498,933...9,528,824
Ensembl chr17:9,493,803...9,523,635
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G |
Zfp354a |
zinc finger protein 354A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,897,217...35,909,063
Ensembl chr10:35,396,231...35,408,068
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G |
Zfp354c |
zinc finger protein 354C |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,630,738...35,647,176
Ensembl chr10:35,132,959...35,145,661
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G |
Zfp879 |
zinc finger protein 879 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,649,693...35,659,692
Ensembl chr10:35,148,679...35,158,674
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G |
Znf354b |
zinc finger protein 354B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,734,794...35,752,882
Ensembl chr10:35,185,028...35,245,505
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G |
Znf454 |
zinc finger protein 454 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
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NCBI chr10:35,684,741...35,701,281
Ensembl chr10:35,185,028...35,245,505
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
DNA:missense mutation: :p.G637S (2512G>A) (human) ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type |
ClinVar RGD |
PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31075413 PMID:31531849 PMID:7833919 More...
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RGD:11041770 |
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:25326637 PMID:25741868 |
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G |
2510039O18Rikl |
RIKEN cDNA 2510039O18 gene like |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:163,655,082...163,661,346
Ensembl chr 5:158,371,955...158,378,195
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:7581394 PMID:7668254 PMID:9425230 PMID:17372139 PMID:19129531 PMID:22280810 PMID:23566833 PMID:25741868 PMID:28492532 PMID:32003821 More...
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NCBI chr X:156,579,669...156,601,448
Ensembl chr X:151,428,578...151,450,115
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G |
Clcn6 |
chloride voltage-gated channel 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:163,715,593...163,748,301
Ensembl chr 5:158,434,299...158,465,059
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G |
Dclre1c |
DNA cross-link repair 1C |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 |
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NCBI chr17:79,684,988...79,718,399
Ensembl chr17:74,776,935...74,809,186
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G |
Nppa |
natriuretic peptide A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
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G |
Nppb |
natriuretic peptide B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 PMID:4373475 PMID:5016372 PMID:6089551 PMID:7977351 PMID:8163671 PMID:8449506 PMID:8533783 PMID:8574422 PMID:8981946 PMID:9152832 PMID:9220536 PMID:9450904 PMID:9536098 PMID:9617436 PMID:9893157 PMID:10329027 PMID:10502784 PMID:10686424 PMID:10729709 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:15979919 PMID:16199547 PMID:16758144 PMID:17576681 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25640679 PMID:25741868 PMID:28306225 PMID:28384719 PMID:28391405 PMID:28492532 PMID:29590070 PMID:31668813 PMID:32174067 PMID:32381727 PMID:32720365 PMID:32746767 PMID:33190788 PMID:34265140 PMID:35128800 PMID:35252061 PMID:35583931 PMID:36495030 PMID:36973604 PMID:37012328 More...
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NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:158,340,490...158,367,620
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G |
Aqp1 |
aquaporin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,553,163...85,596,203
Ensembl chr 4:84,224,002...84,265,904
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:31428121 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
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NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:83,705,652...83,721,528
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G |
Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609
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G |
Ggct |
gamma-glutamyl cyclotransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,453,387...85,459,597
Ensembl chr 4:84,123,118...84,129,277
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G |
Ghrhr |
growth hormone releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,830,345...85,863,127
Ensembl chr 4:84,500,212...84,532,776
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G |
Inmt |
indolethylamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,648,459...85,652,755
Ensembl chr 4:84,318,197...84,322,493
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G |
Mindy4 |
MINDY lysine 48 deubiquitinase 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,689,049...85,797,553
Ensembl chr 4:84,358,902...84,463,395
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G |
Mturn |
maturin, neural progenitor differentiation regulator homolog |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,137,825...85,158,790
Ensembl chr 4:83,807,579...83,824,950
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G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,391,142...85,442,281
Ensembl chr 4:84,060,880...84,111,404
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G |
Plekha8 |
pleckstrin homology domain containing A8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:85,053,765...85,104,376
Ensembl chr 4:83,723,561...83,774,081
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G |
Znrf2 |
zinc and ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,274,626...85,358,083
Ensembl chr 4:83,949,309...84,027,818
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: CHST14-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 DNA:frameshift mutations, missense mutations:CDS:multiple (human) DNA:missense mutations, deletion:CDS:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:25348902 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28306225 PMID:28346368 PMID:28492532 PMID:31905796 PMID:32629534 PMID:34815299 PMID:35464846 PMID:26373698 PMID:20004762 More...
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RGD:11061906, RGD:155663488 |
NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:105,916,466...105,918,548
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Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
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NCBI chr20:26,661,326...26,740,011
Ensembl chr20:26,118,196...26,196,992
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G |
Tspyl1 |
TSPY-like 1 |
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ISO |
ClinVar Annotator: match by term: DSE-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr20:39,637,035...39,639,594
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
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C1r |
complement C1r |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: C1R-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
OMIM CTD ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 PMID:33268848 PMID:34324282 More...
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NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:157,412,692...157,423,484
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C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
ClinVar |
PMID:25741868 PMID:27745832 |
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NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
ClinVar |
PMID:27745832 |
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NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:157,430,117...157,442,303
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 More...
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NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
ClinVar |
PMID:25741868 PMID:27745832 |
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NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: C1S-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
OMIM ClinVar |
PMID:9973493 PMID:11390518 PMID:19155518 PMID:25741868 PMID:27745832 PMID:28492532 More...
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NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:157,430,117...157,442,303
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: B4GALT7-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28306225 PMID:28492532 PMID:30914273 PMID:31278392 PMID:31614862 More...
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NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573
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Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:166,500,781...166,515,481
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Actrt2 |
actin-related protein T2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:165,236,086...165,237,629
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Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:166,749,310...166,786,003
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Ankrd65 |
ankyrin repeat domain 65 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:166,397,748...166,400,953
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Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:164,844,161...164,866,212
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Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:166,350,304...166,370,482
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B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
OMIM ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 PMID:24766538 PMID:25149931 PMID:25741868 PMID:26477546 PMID:27023906 PMID:28229453 PMID:28492532 PMID:28649518 PMID:29230159 PMID:29443383 PMID:29620724 PMID:29931299 PMID:31614862 PMID:31674007 PMID:32381727 PMID:32761602 PMID:33461977 PMID:33631843 PMID:34529350 PMID:35726512 PMID:35734427 PMID:35903967 PMID:35918752 More...
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NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 PMID:10506123 PMID:15211654 PMID:16199547 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28306225 PMID:28492532 PMID:28882145 PMID:30914273 PMID:31278392 PMID:31614862 PMID:32429945 PMID:34193099 More...
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NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573
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G |
C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:166,551,628...166,556,003
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C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:166,701,676...166,719,955
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G |
Ccdc27 |
coiled-coil domain containing 27 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:164,585,267...164,599,355
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G |
Ccnl2 |
cyclin L2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:166,417,508...166,436,882
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Cdk11b |
cyclin-dependent kinase 11B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:166,212,829...166,238,876
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G |
Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:164,534,782...164,567,248
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G |
Cfap74 |
cilia and flagella associated protein 74 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:166,474,966...166,479,017
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G |
Dbn1 |
drebrin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,155,729...9,170,121
Ensembl chr17:9,150,659...9,164,984
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G |
Ddx41 |
DEAD-box helicase 41 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415
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G |
Dok3 |
docking protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,114,763...9,121,781
Ensembl chr17:9,109,597...9,115,188
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:166,456,686...166,468,664
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G |
Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,835,883...9,868,781
Ensembl chr17:9,832,230...9,835,137
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G |
F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530
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G |
Faap20 |
FA core complex associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:165,808,657...165,815,333
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G |
Fam193b |
family with sequence similarity 193, member B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,071,974...9,104,659
Ensembl chr17:9,066,707...9,099,508
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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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G |
Fndc10 |
fibronectin type III domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:166,300,122...166,310,326
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124
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G |
Grk6 |
G protein-coupled receptor kinase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,182,160...9,198,380
Ensembl chr17:9,177,019...9,192,644
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G |
Hes5 |
hes family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:165,522,234...165,523,001
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G |
Hk3 |
hexokinase 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,602,119...9,620,038
Ensembl chr17:9,599,865...9,614,863
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G |
Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:166,479,155...166,497,651
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:166,784,148...166,785,435
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G |
Klhl17 |
kelch-like family member 17 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,095,701...172,101,945
Ensembl chr 5:166,814,110...166,818,925
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G |
Lman2 |
lectin, mannose-binding 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,274,362...9,294,950
Ensembl chr17:9,269,022...9,287,265
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G |
Lrrc47 |
leucine rich repeat containing 47 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,930,717...171,930,805
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G |
Mir200b |
microRNA 200b |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,931,495...171,931,589
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,929,682...171,929,766
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxd3 |
Max dimerization protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,306,552...9,310,278
Ensembl chr17:9,301,399...9,305,157
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G |
Mxra8 |
matrix remodeling associated 8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:166,449,154...166,453,636
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G |
Nadk |
NAD kinase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:166,145,481...166,176,322
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G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,102,369...172,114,168
Ensembl chr 5:166,820,161...166,831,949
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,315,237...9,425,358
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G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:165,525,402...165,542,135
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G |
Pdlim7 |
PDZ and LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,129,603...9,144,956
Ensembl chr17:9,124,649...9,139,811
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:165,627,799...165,632,965
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G |
Pfn3 |
profilin 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,222,729...9,223,256
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G |
Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:165,544,200...165,602,356
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,087,524...172,095,566
Ensembl chr 5:166,804,837...166,813,155
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G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:164,880,587...165,203,601
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G |
Prelid1 |
PRELI domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,310,471...9,313,511
Ensembl chr17:9,305,361...9,308,407
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G |
Prkcz |
protein kinase C, zeta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:165,819,466...165,930,367
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G |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr10:35,772,968...35,775,443
Ensembl chr10:35,271,973...35,274,434
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G |
Prr7 |
proline rich 7 (synaptic) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,170,405...9,178,814
Ensembl chr17:9,165,269...9,172,536
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G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,744,953...170,747,556
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G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:166,496,755...166,500,611
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G |
Rab24 |
RAB24, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,313,593...9,315,675
Ensembl chr17:9,308,525...9,310,553
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:165,634,300...165,646,750
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G |
Rgs14 |
regulator of G-protein signaling 14 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,254,112...9,268,233
Ensembl chr17:9,249,019...9,263,104
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G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:166,724,984...166,725,751
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G |
Samd11 |
sterile alpha motif domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:166,831,663...166,850,009
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G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:166,586,390...166,604,521
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G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:166,185,166...166,207,021
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G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,861,751...169,867,070
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G |
Sncb |
synuclein, beta |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012
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G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:166,313,650...166,343,429
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G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:166,469,589...166,472,742
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G |
Tmed9 |
transmembrane p24 trafficking protein 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,034,797...9,039,311
Ensembl chr17:9,029,646...9,034,176
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G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:166,344,386...166,350,636
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G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:166,046,565...166,050,433
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G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:166,391,080...166,393,904
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G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:165,484,262...165,493,703
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:166,618,969...166,622,353
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599
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G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:164,710,285...164,725,425
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G |
Tspan17 |
tetraspanin 17 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,824,353...9,831,985
Ensembl chr17:9,819,202...9,826,834
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G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:165,411,058...165,428,857
|
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G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:166,630,152...166,653,707
|
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G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:166,533,418...166,547,804
|
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G |
Uimc1 |
ubiquitin interaction motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,528,923...9,597,967
Ensembl chr17:9,527,794...9,592,799
|
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G |
Unc5a |
unc-5 netrin receptor A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,620,005...9,675,794
Ensembl chr17:9,614,838...9,670,526
|
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G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:166,377,455...166,382,637
|
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G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:164,706,163...164,721,643
|
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G |
Zfp346 |
zinc finger protein 346 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,498,933...9,528,824
Ensembl chr17:9,493,803...9,523,635
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like CTD Direct Evidence: marker/mechanism DNA:deletion:cds:c.483_491del9 (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 PMID:25007800 PMID:25741868 PMID:28492532 PMID:32295219 PMID:18513683 More...
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RGD:11553863 |
NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:77,037,565...77,049,226
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1556139 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1772601 PMID:1895316 PMID:1939638 PMID:1998337 PMID:2002056 PMID:2049575 PMID:2145268 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:2492273 PMID:2583342 PMID:2710295 PMID:2771024 PMID:2808425 PMID:2834369 PMID:2934644 PMID:2934645 PMID:2981879 PMID:3076851 PMID:3162228 PMID:3204406 PMID:6477831 PMID:6507506 PMID:7230200 PMID:7581395 PMID:7665911 PMID:7695699 PMID:7749417 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8884076 PMID:8990011 PMID:9036918 PMID:9143932 PMID:9147870 PMID:9399899 PMID:9536098 PMID:9546243 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11359405 PMID:11577371 PMID:12131463 PMID:12488462 PMID:12694234 PMID:12786757 PMID:16199547 PMID:16751282 PMID:16863833 PMID:17053184 PMID:17122455 PMID:17210404 PMID:17224388 PMID:17251678 PMID:17576681 PMID:17728513 PMID:18043893 PMID:18272325 PMID:18389341 PMID:19011090 PMID:19248182 PMID:19344236 PMID:19424605 PMID:19444361 PMID:19477391 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20301667 PMID:20518783 PMID:20648054 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22038052 PMID:22065459 PMID:22492385 PMID:22610159 PMID:22647446 PMID:22696272 PMID:22713205 PMID:23052746 PMID:23148498 PMID:23234825 PMID:23293852 PMID:23587214 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24650746 PMID:24922459 PMID:24932165 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25525159 PMID:25526469 PMID:25637381 PMID:25640679 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25848751 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26497932 PMID:26854089 PMID:27011056 PMID:27146836 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27488172 PMID:27611364 PMID:27888582 PMID:27964749 PMID:27975164 PMID:28035354 PMID:28087566 PMID:28183226 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28518168 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29192238 PMID:29216800 PMID:29309923 PMID:29323927 PMID:29346445 PMID:29381997 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29650765 PMID:29778910 PMID:29790871 PMID:29907982 PMID:29940997 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30129429 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30786240 PMID:30793832 PMID:30837697 PMID:30896870 PMID:30919682 PMID:30999998 PMID:31008308 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31394236 PMID:31447099 PMID:31531849 PMID:31575845 PMID:31600821 PMID:31719132 PMID:31791984 PMID:31833208 PMID:31891008 PMID:31903434 PMID:32461654 PMID:32483363 PMID:33087929 PMID:33125268 PMID:33161638 PMID:33282382 PMID:33726816 PMID:34047934 PMID:34318601 PMID:35092149 PMID:35406420 PMID:35543214 PMID:35587586 PMID:35699227 PMID:36103205 PMID:36119745 PMID:36189931 PMID:36277156 PMID:36318936 PMID:36977837 PMID:37042257 PMID:37079061 PMID:37086723 PMID:37171638 PMID:37655064 PMID:38102934 More...
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NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 |
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NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:24922459 PMID:28492532 |
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NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:48,033,526...48,051,481
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G |
Wdr75 |
WD repeat domain 75 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:24922459 PMID:28492532 |
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NCBI chr 9:55,395,232...55,425,412
Ensembl chr 9:47,903,200...47,933,399
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Cand2 |
cullin-associated and neddylation-dissociated 2 (putative) |
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ISO |
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RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
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G |
Fcgr3a |
Fc gamma receptor 3A |
treatment |
ISO |
DNA:polymorphism: :p.V176F (human) |
RGD |
PMID:21538321 |
RGD:11344956 |
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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G |
Ace |
angiotensin I converting enzyme |
disease_progression |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15315169 |
RGD:11038920 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Agt |
angiotensinogen |
severity |
ISO |
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human) |
RGD |
PMID:16521052 PMID:20702504 |
RGD:11039045, RGD:11039055 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
C3 |
complement C3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1353212 |
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NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
susceptibility |
ISO |
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human) |
RGD |
PMID:26234573 PMID:25839768 |
RGD:11522500, RGD:11528567 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Cd86 |
CD86 molecule |
treatment |
ISO |
protein:increased expression:venous blood, B cell (human) |
RGD |
PMID:27030970 |
RGD:11354986 |
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20013271 |
RGD:10755701 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20013271 |
RGD:10755701 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) |
RGD |
PMID:9186886 |
RGD:6909151 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G |
Il27 |
interleukin 27 |
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ISO |
mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" |
RGD |
PMID:33280050 |
RGD:126790550 |
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582
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G |
Il5 |
interleukin 5 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:16787590 |
RGD:11354946 |
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213
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G |
Kng1 |
kininogen 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:26098644 |
RGD:11059888 |
NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555
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G |
Kng2 |
kininogen 2 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:26098644 |
RGD:11059888 |
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:mutations:exons: DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human) |
RGD |
PMID:22451026 PMID:25232290 PMID:20602240 |
RGD:7349346, RGD:11531116, RGD:7349347 |
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:9543574 |
RGD:11541055 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9002298 PMID:12671112 |
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NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775
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G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:19967651 |
RGD:11552576 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) |
RGD |
PMID:11836690 |
RGD:5147830 |
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO ISS |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:9245985 PMID:9536098 PMID:10767348 PMID:10946360 PMID:12114496 PMID:12700602 PMID:12843319 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:16051269 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16705692 PMID:16861286 PMID:17095602 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19767588 PMID:20135064 PMID:20501893 PMID:20609011 PMID:21158752 PMID:22991266 PMID:23535011 PMID:23722869 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24196379 PMID:24603890 PMID:25637381 PMID:25741868 PMID:26176610 PMID:26387786 PMID:28166811 PMID:28492532 PMID:29398197 PMID:30578397 PMID:31400083 PMID:32300199 PMID:32503579 PMID:32573726 PMID:15024723 More...
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RGD:1300352 |
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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G |
Ak1 |
adenylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:15,912,485...15,923,041
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884 More...
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NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arteriovenous malformation |
ClinVar |
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NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165 Ensembl chr 3:15,856,182...15,869,165
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G |
Eng |
endoglin |
no_association |
ISO ISS |
HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506 DNA:mutations: CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
ClinVar MouseDO CTD RGD |
PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10751092 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12667943 PMID:12673790 PMID:12786761 PMID:12920067 PMID:13043988 PMID:14526373 PMID:14972453 PMID:15024723 PMID:15115879 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15520401 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576210 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20067780 PMID:20135064 PMID:20301525 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21402931 PMID:21415079 PMID:21967607 PMID:21987708 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22722545 PMID:22991266 PMID:23046070 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24336440 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25640679 PMID:25674101 PMID:25741868 PMID:25760803 PMID:25868896 PMID:25970827 PMID:26167679 PMID:26387786 PMID:26395556 PMID:26811476 PMID:26820968 PMID:27146957 PMID:27260700 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29146883 PMID:29171923 PMID:29339534 PMID:29398197 PMID:29483005 PMID:29631995 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30120215 PMID:30251589 PMID:30578383 PMID:30578397 PMID:30665703 PMID:30701124 PMID:30763665 PMID:30946035 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32165824 PMID:32190976 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32847536 PMID:32933640 PMID:33282178 PMID:33919892 PMID:34377910 PMID:34501220 PMID:34530633 PMID:34872578 PMID:34880085 PMID:34900561 PMID:35346192 PMID:36651276 PMID:37848456 PMID:7894484 PMID:16752392 PMID:10899246 PMID:10562296 PMID:9245986 PMID:15375013 PMID:15024723 More...
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RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Gdf2 |
growth differentiation factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26801773 |
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NCBI chr16:9,261,679...9,267,678
Ensembl chr16:9,255,430...9,261,429
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G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
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G |
Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884 More...
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NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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G |
Smad4 |
SMAD family member 4 |
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ISO |
DNA:missense,frameshift, nonsense mutations:exons: ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:16613914 |
RGD:11035218 |
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
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G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:decreased expression:blood, lymphocyte |
RGD |
PMID:16611101 |
RGD:10450733 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18673552 PMID:19767588 PMID:20414677 PMID:20501893 PMID:21158752 PMID:23722869 PMID:23919827 PMID:24196379 PMID:25741868 PMID:26176610 PMID:28492532 PMID:31220907 PMID:32300199 PMID:32503579 PMID:32573726 More...
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NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar OMIM RGD |
PMID:2601709 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12667943 PMID:12673790 PMID:12786761 PMID:12920067 PMID:13043988 PMID:14526373 PMID:14684682 PMID:14972453 PMID:15024723 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16164574 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576210 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20067780 PMID:20301525 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21415079 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22991266 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24336440 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26811476 PMID:27146957 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29171923 PMID:29398197 PMID:29483005 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30251589 PMID:30374176 PMID:30665703 PMID:30701124 PMID:30728427 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32165824 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32907962 PMID:32933640 PMID:33919892 PMID:34008892 PMID:34377910 PMID:34501220 PMID:34530633 PMID:34872578 PMID:34880085 PMID:34900561 PMID:35346192 PMID:35628811 PMID:36651276 PMID:37848456 PMID:15907823 More...
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RGD:11041166 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 |
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NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
protein:decreased expression:plasma: |
RGD |
PMID:15907823 |
RGD:11041166 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
DNA:nonsense mutation:cds:145del(human) DNA:deletion, insertion and missense mutations:exons: DNA:mutations: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 |
OMIM CTD ClinVar RGD |
PMID:6470589 PMID:8640225 PMID:8782041 PMID:9245985 PMID:9536098 PMID:10187774 PMID:10694922 PMID:10767348 PMID:10946360 PMID:11170071 PMID:11484689 PMID:11865300 PMID:12079393 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:15993872 PMID:16123970 PMID:16199547 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16829353 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17425869 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19763152 PMID:19767588 PMID:20056902 PMID:20307669 PMID:20414677 PMID:20501893 PMID:20609011 PMID:21132305 PMID:21158752 PMID:21378382 PMID:21398687 PMID:21488239 PMID:21536610 PMID:21546842 PMID:22028876 PMID:22377182 PMID:22406018 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22977237 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23568730 PMID:23653583 PMID:23722869 PMID:23729109 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24603890 PMID:24753439 PMID:25312062 PMID:25318803 PMID:25326635 PMID:25557927 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:26986070 PMID:27077548 PMID:27081284 PMID:27291782 PMID:27316748 PMID:27587546 PMID:27613157 PMID:27630060 PMID:27869117 PMID:28166811 PMID:28492532 PMID:28655553 PMID:28918311 PMID:29171923 PMID:29398197 PMID:29449337 PMID:29515340 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30120215 PMID:30244195 PMID:30251589 PMID:30260738 PMID:30303062 PMID:30578383 PMID:30578397 PMID:31019026 PMID:31220907 PMID:31327192 PMID:31400083 PMID:31450639 PMID:31455059 PMID:31511490 PMID:31594285 PMID:31618753 PMID:31630786 PMID:31727138 PMID:31875044 PMID:32300199 PMID:32341592 PMID:32503579 PMID:32573726 PMID:32581362 PMID:32899377 PMID:33201366 PMID:33754658 PMID:33919892 PMID:34008892 PMID:34501220 PMID:34872578 PMID:34966542 PMID:35620871 PMID:35628811 PMID:35997807 PMID:36993588 PMID:37568404 PMID:37776659 PMID:18543223 PMID:17219009 PMID:12588795 PMID:16752392 More...
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RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 |
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Oral cavity telangiectasia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Gdf2 |
growth differentiation factor 2 |
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ISO |
ClinVar Annotator: match by term: GDF2-related condition | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 |
OMIM ClinVar |
PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 PMID:29650961 PMID:30476936 PMID:30578383 PMID:30578397 PMID:31661308 PMID:31727138 PMID:32573726 PMID:32618121 PMID:32992168 PMID:33066286 PMID:34199176 PMID:34611981 PMID:34904380 PMID:35346192 More...
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NCBI chr16:9,261,679...9,267,678
Ensembl chr16:9,255,430...9,261,429
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI CTD Direct Evidence: marker/mechanism DNA:mutations:exon:multiple DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple |
OMIM ClinVar CTD RGD |
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9811934 PMID:10398437 PMID:10441006 PMID:10764709 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12116240 PMID:12417513 PMID:14647410 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:15799969 PMID:16152648 PMID:16199547 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17362581 PMID:17576681 PMID:17873119 PMID:18178612 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21465659 PMID:21515830 PMID:21835029 PMID:21898662 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:24715504 PMID:24728327 PMID:24763289 PMID:24841914 PMID:24983367 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25502805 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25742471 PMID:25931195 PMID:25980754 PMID:26253951 PMID:26467025 PMID:26572829 PMID:26580448 PMID:26614708 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:27023170 PMID:27079212 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28199989 PMID:28283864 PMID:28406602 PMID:28481359 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28655553 PMID:28693246 PMID:28716708 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29069792 PMID:29212164 PMID:29684080 PMID:29743074 PMID:29891884 PMID:30267214 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31068090 PMID:31159747 PMID:31474762 PMID:31515488 PMID:31595668 PMID:31654632 PMID:31684910 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32068069 PMID:32300199 PMID:32459922 PMID:32573726 PMID:32719554 PMID:32944796 PMID:32973888 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33745841 PMID:33824467 PMID:34130653 PMID:34326862 PMID:35907855 PMID:35943490 PMID:36158166 PMID:36194927 PMID:36243179 PMID:37377590 PMID:20101697 PMID:15031030 More...
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RGD:11062720, RGD:11070199 |
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
disease_progression |
ISO |
DNA:mutation:cds:1013C>G(p.S338X)(human) |
RGD |
PMID:24711662 |
RGD:11352304 |
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
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G |
Fcgr3a |
Fc gamma receptor 3A |
disease_progression treatment |
ISO |
DNA:polymorphism: : DNA:SNP:exon:p.F158V (rs396991) (human) |
RGD |
PMID:21564078 PMID:15659493 |
RGD:11040774, RGD:11352262 |
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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G |
Gpx3 |
glutathione peroxidase 3 |
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ISO |
protein:increased expression:bone marrow |
RGD |
PMID:32763516 |
RGD:401827827 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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G |
Il10 |
interleukin 10 |
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ISO |
DNA:SNPs: :multiple |
RGD |
PMID:19573080 |
RGD:11049165 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G |
Il6 |
interleukin 6 |
no_association |
ISO |
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) DNA:SNPs: :multiple |
RGD |
PMID:19573080 PMID:19573080 |
RGD:11049165, RGD:11049165 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Irf4 |
interferon regulatory factor 4 |
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ISO |
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RGD |
PMID:23355206 |
RGD:11530052 |
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic |
CTD ClinVar OMIM |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:28492532 PMID:30126942 More...
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NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
treatment |
ISO |
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RGD |
PMID:26314844 PMID:16917002 |
RGD:11081075, RGD:11081144 |
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
protein:increased activity:serum |
RGD |
PMID:22345095 |
RGD:11038914 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:17096887 |
RGD:11035276 |
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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G |
Alkbh5 |
alkB homolog 5, RNA demethylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
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NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331
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G |
Apoe |
apolipoprotein E |
treatment |
ISO |
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RGD |
PMID:22348216 |
RGD:11040544 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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G |
Arid4a |
AT-rich interaction domain 4A |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 6:95,258,429...95,335,987
Ensembl chr 6:89,522,442...89,593,510
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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G |
Aurka |
aurora kinase A |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390
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G |
B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum |
ClinVar RGD |
PMID:26619011 PMID:32856850 |
RGD:329955356 |
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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