RGD DISEASE ONTOLOGY - ANNOTATIONS |
|
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.
|
Term: | keratosis |
|
Accession: | DOID:161
|
browse the term
|
Definition: | A skin disease characterized_by growth of keratin on the skin or mucous membranes. (DO) |
Synonyms: | exact_synonym: | Keratoderma Blennorrhagicum; Keratoma; Keratomas; Keratoses; Keratosis Blennorrhagica |
| primary_id: | MESH:D007642 |
| xref: | EFO:1000720; NCI:C34747 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
|
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
|
|
G |
Asip |
agouti signaling protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32937126 |
|
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
|
|
G |
Cat |
catalase |
susceptibility |
ISO |
DNA:SNP:promoter:-262C>T(rs1001179)(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14580687 PMID:14580687 |
RGD:9479152 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:12485442 |
RGD:7488960 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
|
|
G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20404090 |
|
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35363433 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35363433 |
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:SNP:promoter:-463G>T(rs2333227)(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14580687 PMID:14580687 |
RGD:9479152 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20404090 |
|
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16930632 PMID:28785074 |
|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
|
|
|
G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf |
OMIM ClinVar |
PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 PMID:25622760 PMID:25741868 PMID:26467025 PMID:28035777 PMID:28492532 PMID:28498512 More...
|
|
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
|
|
|
G |
Cyp26a1 |
cytochrome P450, family 26, subfamily a, polypeptide 1 |
|
ISO |
|
RGD |
PMID:22179182 |
RGD:13782258 |
NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204
|
|
G |
Knstrn |
kinetochore-localized astrin/SPAG5 binding protein |
severity |
ISO |
DNA:mutation:cds: p.Ala40Glu (human) |
RGD |
PMID:30972880 |
RGD:28867225 |
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
susceptibility |
ISO |
DNA:missense mutation:cds:p.A481T (rs74653330) (human) |
RGD |
PMID:24617981 |
RGD:9491831 |
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
RGD |
PMID:9274625 |
RGD:7394827 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis |
ClinVar |
PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:31046801 More...
|
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Annular epidermolytic ichthyosis |
CTD ClinVar |
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22035476 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
|
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1 |
OMIM ClinVar |
PMID:9856845 PMID:28492532 |
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 |
OMIM ClinVar |
PMID:10053007 PMID:15214894 PMID:16227096 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:33081034 More...
|
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
|
G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Atrophoderma vermiculata |
ClinVar |
PMID:26142438 |
|
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO ISS |
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM:148210 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20629838 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23447037 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:36474027 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
|
RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
|
G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Olmsted syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
|
|
G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
|
ISO |
ClinVar Annotator: match by term: Olmsted syndrome 1 |
OMIM ClinVar |
PMID:22405088 PMID:24452206 PMID:25741868 PMID:27273692 PMID:28492532 PMID:28587736 More...
|
|
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
|
|
|
G |
Abca12 |
ATP binding cassette subfamily A member 12 |
|
ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:9536098 PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 PMID:19262603 PMID:20672373 PMID:20849526 PMID:22992804 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:30916489 PMID:31168818 PMID:31586585 PMID:32293521 PMID:32707200 More...
|
|
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
|
|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:9536098 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 PMID:18347291 PMID:19131948 PMID:19890349 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31046801 PMID:31168818 PMID:31642606 PMID:31953843 PMID:33255364 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 PMID:34908195 More...
|
|
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
|
|
G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29130490 PMID:29935003 PMID:30270455 PMID:30578701 PMID:31168818 PMID:33435499 PMID:33786896 More...
|
|
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
|
|
G |
Cers3 |
ceramide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:28875980 PMID:30578701 PMID:33492757 |
|
NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
|
|
G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
|
ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:16436457 PMID:23621129 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:27025581 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31642606 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33223529 PMID:33786896 PMID:37075885 More...
|
|
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
|
|
G |
Ebp |
EBP, cholestenol delta-isomerase |
|
ISO |
|
RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P |
RGD |
PMID:9195225 |
RGD:1601069 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
|
|
G |
Nipal4 |
NIPA-like domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31347739 PMID:31532840 PMID:33786896 PMID:34908195 PMID:35412663 PMID:35734965 More...
|
|
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
|
|
G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
|
RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
|
G |
Pnpla1 |
patatin-like phospholipase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:3757302 PMID:22246504 PMID:24344921 PMID:25741868 PMID:26691440 PMID:26778108 PMID:28093717 PMID:28369476 PMID:28403545 PMID:28492532 PMID:30578701 PMID:32147742 PMID:33786896 PMID:33969388 PMID:34908195 PMID:35970721 More...
|
|
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
|
|
G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
|
ISO |
ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:30578701 PMID:31012992 PMID:31633189 PMID:31642606 PMID:31671075 PMID:33422619 PMID:35822528 More...
|
|
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
|
|
G |
Slc27a4 |
solute carrier family 27 member 4 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 PMID:27025581 PMID:27224495 PMID:28492532 PMID:31595490 More...
|
|
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
|
|
G |
Tgm1 |
transglutaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 PMID:10482949 PMID:10694685 PMID:10914678 PMID:11251583 PMID:11298529 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16968736 PMID:18948357 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19278426 PMID:19863506 PMID:19890349 PMID:20167857 PMID:20663883 PMID:21668430 PMID:21895619 PMID:22258055 PMID:22311480 PMID:22437313 PMID:22622417 PMID:22801880 PMID:23096117 PMID:23192619 PMID:23278109 PMID:23689228 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:25998749 PMID:26076875 PMID:26594337 PMID:26762237 PMID:27025581 PMID:27442430 PMID:28403434 PMID:28492532 PMID:30578701 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 PMID:34908195 PMID:35506549 PMID:35734965 More...
|
|
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
|
|
G |
Ugcg |
UDP-glucose ceramide glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma |
ClinVar |
PMID:29417556 |
|
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
|
|
|
G |
Abca12 |
ATP binding cassette subfamily A member 12 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16675967 PMID:12915478 |
RGD:1598548 |
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
|
|
G |
Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
susceptibility |
ISO |
|
RGD |
PMID:11590543 |
RGD:1598668 |
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
|
|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21739938 |
|
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
|
|
G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21739938 PMID:11773004 |
RGD:1599073 |
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
|
|
G |
Sult2b1 |
sulfotransferase family 2B member 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar |
PMID:28575648 |
|
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
|
|
G |
Tgm1 |
transglutaminase 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | ClinVar Annotator: match by term: Lamellar ichthyosis, type 1 OMIM:242300 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9457916 PMID:9536098 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 PMID:10482949 PMID:10694685 PMID:10886517 PMID:10914678 PMID:11064247 PMID:11251583 PMID:11298529 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16133457 PMID:16199547 PMID:16280294 PMID:16908342 PMID:16968736 PMID:16977323 PMID:17576681 PMID:17635512 PMID:18669893 PMID:18948357 PMID:19156839 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19278426 PMID:19486042 PMID:19500103 PMID:19863506 PMID:19890349 PMID:20021785 PMID:20137757 PMID:20167857 PMID:20301779 PMID:20522418 PMID:20663883 PMID:21199492 PMID:21668430 PMID:21895619 PMID:22211879 PMID:22258055 PMID:22311480 PMID:22435431 PMID:22437313 PMID:22511925 PMID:22622417 PMID:22801880 PMID:22992804 PMID:23096117 PMID:23192619 PMID:23278109 PMID:23621129 PMID:23689228 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:24824130 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:25808943 PMID:25998749 PMID:26076875 PMID:26220141 PMID:26451124 PMID:26594337 PMID:26620441 PMID:26762237 PMID:26990434 PMID:27025581 PMID:27442430 PMID:28403434 PMID:28488422 PMID:28492532 PMID:28747283 PMID:29653007 PMID:30302839 PMID:30578701 PMID:30600594 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 PMID:34908195 PMID:35412663 PMID:35506549 PMID:35734965 PMID:7824952 More...
|
RGD:1599417 |
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
|
|
G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar |
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
|
|
|
G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 |
ClinVar |
PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 PMID:25959266 PMID:26138355 PMID:26704558 PMID:27535030 PMID:28492532 PMID:28733343 PMID:29390993 PMID:29455050 PMID:29852413 PMID:31780880 PMID:32139178 PMID:32917465 PMID:34055682 PMID:34120799 PMID:35104249 More...
|
|
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
|
|
G |
Pnpla1 |
patatin-like phospholipase domain containing 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition OMIM:615024 |
OMIM ClinVar MouseDO |
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:26778108 PMID:27884173 PMID:27884779 PMID:28093717 PMID:28369476 PMID:28403545 PMID:28492532 PMID:29624231 PMID:30290227 PMID:30409984 PMID:30578701 PMID:31120544 PMID:32147742 PMID:33727708 PMID:33969388 PMID:34899144 PMID:35893253 PMID:35970721 More...
|
|
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
|
|
|
G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18263585 PMID:18445049 PMID:18843291 PMID:25741868 PMID:28492532 PMID:29611532 More...
|
|
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
|
|
|
G |
Casp14 |
caspase 14 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 |
OMIM ClinVar |
PMID:25741868 PMID:27494380 PMID:28492532 |
|
NCBI chr 7:10,929,759...10,932,591
Ensembl chr 7:10,926,725...10,933,405
|
|
|
G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
|
ISO ISS |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition OMIM:617574 |
OMIM ClinVar MouseDO |
PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 PMID:30578701 PMID:31012992 PMID:31633189 PMID:31642606 PMID:31671075 PMID:33422619 PMID:35822528 More...
|
|
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
|
|
|
G |
Sult2b1 |
sulfotransferase family 2B member 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 |
OMIM ClinVar |
PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 |
|
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
|
|
|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
ClinVar Annotator: match by term: ALOX12B-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 PMID:18347291 PMID:18414213 PMID:19131948 PMID:19890349 PMID:20222929 PMID:22622417 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25524567 PMID:25741868 PMID:25998749 PMID:26762237 PMID:26863999 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31046801 PMID:31168818 PMID:31642606 PMID:31953843 PMID:32253496 PMID:33255364 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 PMID:34908195 PMID:35052464 PMID:36003334 More...
|
|
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
|
|
G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
CTD ClinVar |
PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 PMID:30578701 PMID:31046801 PMID:31168818 More...
|
|
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
|
|
G |
Sult2b1 |
sulfotransferase family 2B member 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
ClinVar |
PMID:17496163 PMID:28575648 |
|
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
|
|
|
G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 |
OMIM CTD ClinVar |
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 PMID:19131948 PMID:19890349 PMID:21668430 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:30270455 PMID:30578701 PMID:31046801 PMID:31642606 PMID:32978145 PMID:33435499 PMID:33786896 More...
|
|
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
|
|
G |
Gucy2e |
guanylate cyclase 2E |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 |
ClinVar |
PMID:24824130 |
|
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
|
|
|
G |
Abca12 |
ATP binding cassette subfamily A member 12 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16199547 PMID:16902423 PMID:19262603 PMID:19664001 PMID:20672373 PMID:21729033 PMID:22257947 PMID:22992804 PMID:23528209 PMID:25741868 PMID:27025581 PMID:28295493 PMID:28492532 PMID:29722424 PMID:29880184 PMID:29887490 PMID:30600594 PMID:30916489 PMID:31168818 PMID:32293521 PMID:32707200 PMID:32851342 PMID:36980989 More...
|
|
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
|
|
|
G |
Abca12 |
ATP binding cassette subfamily A member 12 |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B OMIM:242500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 PMID:20672373 PMID:21729033 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:29543227 PMID:29880184 PMID:30578701 PMID:30916489 PMID:31168818 PMID:31586585 PMID:32293521 PMID:34906502 PMID:35216886 PMID:36980989 More...
|
|
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
|
|
G |
Cst6 |
cystatin E/M |
|
ISS |
OMIM:242500 |
MouseDO |
|
|
NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
|
|
G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
|
ISS |
OMIM:242500 |
MouseDO |
|
|
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
|
|
G |
Prss8 |
serine protease 8 |
|
ISS |
OMIM:242500 |
MouseDO |
|
|
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
|
|
|
G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31642606 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33223529 PMID:33786896 PMID:37075885 More...
|
|
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
|
|
|
G |
Nipal4 |
NIPA-like domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 |
OMIM ClinVar |
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31347739 PMID:31532840 PMID:33786896 PMID:34908195 PMID:35412663 PMID:35734965 More...
|
|
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
|
|
|
G |
Lipn |
lipase, family member N |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:231,584,950...231,603,456
Ensembl chr 1:231,584,956...231,603,468
|
|
|
G |
Cers3 |
ceramide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 |
OMIM ClinVar |
PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bart-Pumphrey syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.N54K(human) |
OMIM ClinVar CTD RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15952212 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17106596 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30565282 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:36474027 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:15482471 More...
|
RGD:7364821 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Aqp5 |
aquaporin 5 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7531539 PMID:23830519 PMID:25741868 PMID:27255181 PMID:28492532 PMID:33914963 PMID:34298581 More...
|
|
NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma |
ClinVar |
PMID:12406348 PMID:25741868 PMID:28492532 PMID:30288772 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma |
ClinVar |
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
|
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
G |
Krt2 |
keratin 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition OMIM:146800 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:25741868 PMID:26581228 PMID:28492532 PMID:29444371 PMID:31953843 More...
|
|
NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963
|
|
|
G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Keratosis pilaris |
ClinVar |
PMID:25741868 PMID:26142438 PMID:28381441 |
|
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
|
|
|
G |
Sash1 |
SAM and SH3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma |
OMIM ClinVar |
PMID:25315659 PMID:25741868 |
|
NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
|
|
|
G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
ClinVar Annotator: match by term: Carvajal syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
|
|
G |
Dsp |
desmoplakin |
|
ISO ISS |
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair OMIM:605676 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:12101406 PMID:12373648 PMID:12802069 PMID:12875771 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16175511 PMID:16199547 PMID:16467215 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19763152 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20307669 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21193976 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22240500 PMID:22406018 PMID:22454510 PMID:22555271 PMID:22795705 PMID:22949226 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24341478 PMID:24440382 PMID:24448499 PMID:24503780 PMID:24598986 PMID:24704780 PMID:24784157 PMID:24825141 PMID:24938629 PMID:24967631 PMID:24981977 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25332820 PMID:25344691 PMID:25351510 PMID:25403600 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25825460 PMID:25856671 PMID:25936878 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26265630 PMID:26272908 PMID:26303123 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26688388 PMID:26718681 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27353043 PMID:27374306 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27854218 PMID:27884173 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28087566 PMID:28152038 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28436997 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28600387 PMID:28611029 PMID:28750076 PMID:28759816 PMID:28767663 PMID:28784889 PMID:28790152 PMID:28798025 PMID:28912206 PMID:29016939 PMID:29032884 PMID:29062697 PMID:29095814 PMID:29165669 PMID:29178656 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29255176 PMID:29334134 PMID:29386531 PMID:29420653 PMID:29511324 PMID:29517769 PMID:29555771 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29773157 PMID:29802319 PMID:29878302 PMID:29884292 PMID:29885824 PMID:29892087 PMID:29915097 PMID:29915098 PMID:29956481 PMID:29997227 PMID:30011071 PMID:30012837 PMID:30086531 PMID:30122538 PMID:30133754 PMID:30165862 PMID:30206291 PMID:30276209 PMID:30291343 PMID:30345701 PMID:30354300 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30403391 PMID:30453078 PMID:30615648 PMID:30670673 PMID:30685992 PMID:30699244 PMID:30700137 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30944905 PMID:30975432 PMID:30993396 PMID:31024045 PMID:31064352 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31194698 PMID:31195250 PMID:31251381 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31378211 PMID:31386562 PMID:31397097 PMID:31402444 PMID:31447099 PMID:31470130 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31589614 PMID:31638414 PMID:31638835 PMID:31727422 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32005173 PMID:32013205 PMID:32041989 PMID:32102357 PMID:32114801 PMID:32233023 PMID:32268277 PMID:32277046 PMID:32356610 PMID:32372669 PMID:32410525 PMID:32516855 PMID:32546831 PMID:32592540 PMID:32593191 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32808748 PMID:32826072 PMID:32878047 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33079602 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33460606 PMID:33500567 PMID:33552729 PMID:33652119 PMID:33652588 PMID:33652732 PMID:33684294 PMID:33722762 PMID:33762593 PMID:33821670 PMID:33857019 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34033898 PMID:34137518 PMID:34194005 PMID:34213952 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34368507 PMID:34389451 PMID:34486814 PMID:34640625 PMID:34766015 PMID:34815391 PMID:34935411 PMID:34946881 PMID:34949102 PMID:35008956 PMID:35026164 PMID:35036946 PMID:35083019 PMID:35087879 PMID:35146008 PMID:35151254 PMID:35348702 PMID:35444050 PMID:35470680 PMID:35474678 PMID:35581137 PMID:35653365 PMID:35766183 PMID:35819174 PMID:36136372 PMID:36178741 PMID:36291626 PMID:36431211 PMID:36580316 PMID:36672924 PMID:36768812 PMID:36836569 PMID:36868229 PMID:37418234 PMID:37461109 PMID:37477868 PMID:37589201 PMID:37799505 PMID:37904629 PMID:37937776 PMID:38691546 More...
|
|
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
|
|
G |
Snrnp48 |
small nuclear ribonucleoprotein U11/U12 subunit 48 |
|
ISO |
ClinVar Annotator: match by term: Carvajal syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040
|
|
|
G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
|
ISO |
ClinVar Annotator: match by term: CEDNIK syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
|
|
G |
Snap29 |
synaptosome associated protein 29 |
|
ISO ISS |
OMIM:609528 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEDNIK syndrome | ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
OMIM MouseDO CTD ClinVar |
PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 PMID:23231787 PMID:25356970 PMID:25473036 PMID:25741868 PMID:25958742 PMID:26467025 PMID:28388629 PMID:28492532 PMID:31748968 PMID:33422265 PMID:33977139 PMID:35229899 More...
|
|
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
|
|
|
G |
Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
|
ISO ISS |
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM:275630 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:545139 PMID:3354610 PMID:6181472 PMID:7362208 PMID:11590543 PMID:14708602 PMID:15136565 PMID:16199547 PMID:18339307 PMID:18682927 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
|
|
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
|
|
G |
Ano10 |
anoctamin 10 |
|
ISO |
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
ClinVar |
PMID:11590543 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
|
|
G |
Cdhr5 |
cadherin-related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
|
|
G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
|
|
G |
Deaf1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
|
|
G |
Drd4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
|
|
G |
Eps8l2 |
EPS8-like 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
|
|
G |
Gatd1 |
glutamine amidotransferase class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
|
|
G |
Irf7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
|
|
G |
Lmntd2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
|
|
G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
|
|
G |
Mir210 |
microRNA 210 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
|
|
G |
Phrf1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
|
|
G |
Pidd1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
|
|
G |
Pnpla2 |
patatin-like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:19763152 PMID:20307669 PMID:20370797 PMID:21073837 PMID:21170305 PMID:21544567 PMID:22406018 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25287355 PMID:25363365 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:30738494 PMID:31525260 PMID:32041611 PMID:33569515 PMID:35460704 More...
|
|
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
|
|
G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
|
|
G |
Rplp2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
|
|
G |
Sct |
secretin |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
|
|
G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
|
|
G |
Taldo1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
|
|
G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
|
|
|
G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 PMID:18414213 PMID:18825599 PMID:19906044 PMID:25093865 PMID:25526675 PMID:25741868 PMID:26459993 PMID:28492532 PMID:34787337 More...
|
|
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
|
|
G |
Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
|
ISO |
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:c.500T>C (p.L167P) (human) |
OMIM ClinVar CTD RGD |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28327575 PMID:28371479 PMID:28492532 PMID:29473937 PMID:30023290 PMID:31535386 PMID:35904974 PMID:22444671 More...
|
RGD:243048422 |
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
|
|
|
G |
Ereg |
epiregulin |
|
ISO |
mRNA:increased expression:external acoustic meatus (human) |
RGD |
PMID:24256036 |
RGD:39457690 |
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
|
|
G |
F13b |
coagulation factor XIII B chain |
|
ISO |
ClinVar Annotator: match by term: Cholesteatoma |
ClinVar |
|
|
NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381
|
|
G |
F5 |
coagulation factor V |
|
ISO |
ClinVar Annotator: match by term: Cholesteatoma |
ClinVar |
|
|
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
protein:increased expression:fibroblast: |
RGD |
PMID:15267172 |
RGD:8547969 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:1384343 |
RGD:7401205 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:1384343 PMID:8725537 |
RGD:7401205, RGD:7401208 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:19484988 |
RGD:8657059 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:19484988 |
RGD:8657059 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
G |
Rabgap1l |
RAB GTPase activating protein 1-like |
|
ISO |
ClinVar Annotator: match by term: Cholesteatoma |
ClinVar |
|
|
NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
|
|
G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:24321752 |
RGD:8661722 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:mucosa: |
RGD |
PMID:22883581 |
RGD:7800662 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:mucosa: |
RGD |
PMID:22883581 |
RGD:7800662 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:external acoustic meatus: |
RGD |
PMID:15267172 |
RGD:8547969 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
|
|
G |
Zbtb37 |
zinc finger and BTB domain containing 37 |
|
ISO |
ClinVar Annotator: match by term: Cholesteatoma |
ClinVar |
|
|
NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
|
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression: |
RGD |
PMID:23324739 |
RGD:8661795 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:11078065 |
RGD:8547968 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
|
|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
protein:increased expression:auditory canal, epidermis (human) |
RGD |
PMID:12838021 |
RGD:8694474 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:8562031 |
RGD:8547586 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:12768791 PMID:7503375 |
RGD:7794712, RGD:11059515 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1r1 |
interleukin 1 receptor type 1 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:8737779 |
RGD:8662931 |
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:8737779 |
RGD:8662931 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:ear: associated with Otitis Media;protein:increased expression:ear: |
RGD |
PMID:8652157 PMID:21311206 |
RGD:7829727, RGD:7364848 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:skin |
RGD |
PMID:12768791 |
RGD:7794712 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
|
RGD |
PMID:15620146 |
RGD:8547870 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
|
RGD |
PMID:15620146 |
RGD:8547870 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Cholesteatoma of middle ear |
ClinVar |
PMID:8220424 PMID:27993330 |
|
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cholesteatoma of middle ear |
ClinVar |
PMID:25741868 PMID:27993330 PMID:28492532 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
protein:increased expression:mucosa of middle ear,skin of ear canal: |
RGD |
PMID:24690988 |
RGD:8552995 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
protein:increased expression:mucosa of middle ear,skin of ear canal: |
RGD |
PMID:24690988 |
RGD:8552995 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
protein:increased expression:mucosa of middle ear,skin of ear canal: |
RGD |
PMID:24690988 |
RGD:8552995 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
associated with Otitis Media;protein:increased expression:ear: |
RGD |
PMID:21311206 |
RGD:7364848 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
protein:increased expression:tympanic membrane,skin: |
RGD |
PMID:9455944 |
RGD:8547787 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:altered expression:mucosa of the middle ear: |
RGD |
PMID:11078065 |
RGD:8547968 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
|
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION |
ClinVar OMIM |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19380683 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:24075184 PMID:25741868 PMID:27238374 PMID:28377967 PMID:28492532 PMID:29979387 PMID:35738466 More...
|
|
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
|
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression: |
RGD |
PMID:23324739 |
RGD:8661795 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
|
|
|
G |
Dsg1 |
desmoglein 1 |
|
ISO |
ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME |
OMIM ClinVar |
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
|
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS |
ClinVar |
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9651581 PMID:11335038 PMID:11443545 PMID:11709541 PMID:15982307 PMID:16135823 PMID:19085937 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26884178 PMID:27396511 PMID:27504877 PMID:28492532 PMID:29607586 PMID:31282071 PMID:31803976 PMID:35699229 More...
|
|
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
|
|
|
G |
Rnu12 |
RNA, U12 small nuclear |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CDAGS syndrome |
OMIM CTD ClinVar |
PMID:2400728 PMID:9733036 PMID:23602181 PMID:28217872 PMID:34085356 |
|
NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696
|
|
|
G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type |
ClinVar |
PMID:10441324 PMID:25741868 |
|
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
|
|
|
G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Darier disease, segmental |
ClinVar |
PMID:11121153 |
|
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
|
|
|
G |
Krt9 |
keratin 9 |
|
ISO |
EPPK, OMIM:144200 |
RGD |
PMID:7512862 |
RGD:1600065 |
NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
|
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis |
OMIM ClinVar |
PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19597050 PMID:19863551 PMID:20031617 PMID:20152563 PMID:20400443 PMID:20525856 PMID:20716751 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22795705 PMID:22949226 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23651034 PMID:23861362 PMID:23891292 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25979592 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26272908 PMID:26332594 PMID:26399581 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27532257 PMID:27698334 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30165862 PMID:30276209 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30731207 PMID:30775854 PMID:30847666 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33460606 PMID:33500567 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34766015 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 More...
|
|
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic ichthyosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17050553 |
|
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16297190 |
|
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16297190 |
|
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
|
|
G |
Jup |
junction plakoglobin |
|
ISS |
OMIM:113800 |
MouseDO |
|
|
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
|
|
G |
Krt1 |
keratin 1 |
susceptibility |
ISO ISS |
DNA:mutation: ; 5191/5192GG>A ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Epidermolytic ichthyosis CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:1284546 PMID:1380725 PMID:1381288 PMID:12406348 PMID:12648226 PMID:25741868 PMID:28492532 PMID:30288772 PMID:11286616 More...
|
RGD:1600166 |
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt10 |
keratin 10 |
susceptibility |
ISO ISS |
DNA:mutations:cds: p.R156C (human) ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic ichthyosis OMIM:113800 |
ClinVar MouseDO RGD |
PMID:1380725 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:24001792 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 PMID:7512983 More...
|
RGD:1600168 |
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 |
OMIM ClinVar |
PMID:25741868 PMID:26581228 PMID:30288772 PMID:33363884 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 |
ClinVar |
PMID:7512983 |
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2A, autosomal dominant | ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2B, autosomal recessive |
OMIM ClinVar |
PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 PMID:7512983 PMID:7526210 PMID:14705805 PMID:15583602 PMID:16505000 PMID:18219278 PMID:19474805 PMID:20302579 PMID:21271994 PMID:22930352 PMID:24001792 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
|
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
|
G |
Krt16 |
keratin 16 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
|
|
G |
Krt9 |
keratin 9 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic |
ClinVar |
PMID:1385292 PMID:2531643 PMID:7512862 PMID:7516304 PMID:7523529 PMID:7532199 PMID:8647270 PMID:9856842 PMID:12838553 PMID:17074468 PMID:19106041 PMID:19223272 PMID:20964665 PMID:22262370 PMID:24862219 PMID:25741868 PMID:28492532 PMID:30666268 PMID:33914963 More...
|
|
NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
|
|
|
G |
Krt9 |
keratin 9 |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma, 1 |
OMIM ClinVar |
PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 PMID:7512862 PMID:7516304 PMID:7523529 PMID:7532199 PMID:8647270 PMID:9204965 PMID:9856842 PMID:12072061 PMID:12192490 PMID:12838553 PMID:17074468 PMID:19106041 PMID:19223272 PMID:22262370 PMID:24862219 PMID:25741868 PMID:28492532 PMID:30666268 PMID:33914963 More...
|
|
NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, 2 |
OMIM ClinVar |
PMID:11286630 PMID:16227096 PMID:25741868 PMID:28492532 PMID:33081034 PMID:37122192 More...
|
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
DNA:mutations:cds:p.E227D,p.A44V(human) |
RGD |
PMID:25398053 |
RGD:11568612 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO ISS |
DNA:missense mutations:cds:p.G12D, p.L209F (human) ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC DNA:missense mutation:exon:p.T202N (c.605C>A) (human) DNA:missense mutation:exon:p.G45E (c.134G>A)(human) DNA:missense mutation:exon:p.L135V (c.403C>G) (human) DNA:missense mutation:exon:p.R42P (125G>C) (human) DNA:missense mutation:exon:p.L209F (625C>T) (human) DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human) DNA:missense mutation:cds:p.R42P (human) CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:9843209 PMID:9843210 PMID:12019212 PMID:19050930 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27068579 PMID:28492532 PMID:16297190 PMID:25556823 PMID:22681493 PMID:21188847 PMID:10798362 PMID:15948974 PMID:9843209 PMID:10594760 More...
|
RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 |
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
DNA:missense mutations:exon:multiple DNA:missense mutation:exon:p.C86S (c.256T>A) (human) DNA:missense mutation: :p.F137L (human) |
RGD |
PMID:12648223 PMID:23037955 PMID:11017804 |
RGD:1598970, RGD:12437072, RGD:1598971 |
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
|
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 |
ClinVar OMIM |
PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 PMID:10888284 PMID:11175305 PMID:12019212 PMID:12165562 PMID:12648223 PMID:12702148 PMID:15131355 PMID:17567887 PMID:19050930 PMID:19755382 PMID:20981092 PMID:22617145 PMID:24033266 PMID:24498627 PMID:25262649 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27884173 PMID:28492532 PMID:35677558 More...
|
|
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
|
|
G |
Nipal4 |
NIPA-like domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 |
ClinVar |
|
|
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
|
|
|
G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 |
OMIM ClinVar |
PMID:148984 PMID:6437964 PMID:11017804 PMID:11933201 PMID:12648223 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 |
OMIM ClinVar |
PMID:25398053 PMID:28492532 PMID:30628963 PMID:30631135 |
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Kdsr |
3-ketodihydrosphingosine reductase |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28575652 PMID:28774589 |
|
NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
|
|
|
G |
Krt83 |
keratin 83 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 |
OMIM ClinVar |
PMID:25741868 PMID:27965375 PMID:28492532 |
|
NCBI chr 7:132,604,180...132,610,869
Ensembl chr 7:132,604,128...132,610,799
|
|
G |
Krt87 |
keratin 87 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 |
OMIM ClinVar |
PMID:25741868 PMID:27965375 PMID:28492532 |
|
NCBI chr 7:132,547,388...132,555,005
Ensembl chr 7:132,548,141...132,554,978
|
|
|
G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25299611 PMID:25741868 PMID:26046366 PMID:26820365 PMID:28315637 PMID:28492532 PMID:29247119 PMID:29568272 PMID:30142439 PMID:30391667 PMID:30528822 PMID:30535908 PMID:30615648 PMID:30847666 PMID:32233023 PMID:35288587 More...
|
|
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
|
|
|
G |
Perp |
p53 apoptosis effector related to PMP22 |
|
ISO |
ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 |
OMIM ClinVar |
PMID:30321533 PMID:31898316 |
|
NCBI chr 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511
|
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
DNA:missense mutation:CDS:p.L34P (101T>C) (human) DNA:missense mutation:exon:p.V30I (c.G88A) (human) |
RGD |
PMID:12019212 PMID:21564177 |
RGD:12050155, RGD:12436733 |
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
|
G |
Krt16 |
keratin 16 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal |
ClinVar |
PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
|
|
NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
|
|
G |
Krt6c |
keratin 6c |
|
ISO |
ClinVar Annotator: match by term: Focal palmoplantar keratoderma |
ClinVar |
PMID:19609311 |
|
NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045
|
|
G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma |
ClinVar |
PMID:25741868 |
|
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
|
|
G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 More...
|
|
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
|
|
|
G |
Krt16 |
keratin 16 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 |
OMIM ClinVar |
PMID:8595410 PMID:16250206 PMID:22336941 PMID:22668561 PMID:24491404 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
|
|
NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
|
|
|
G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
|
|
|
G |
Krt6c |
keratin 6c |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse |
OMIM ClinVar |
PMID:19609311 PMID:23662636 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness |
OMIM CTD ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21055240 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29148562 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:36474027 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
|
G |
Ap1b1 |
adaptor related protein complex 1 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 PMID:33452671 PMID:35144013 More...
|
|
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
|
|
|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis |
ClinVar |
PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31168818 PMID:34008892 More...
|
|
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
|
|
G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis |
ClinVar |
PMID:24824130 PMID:26274329 PMID:26578203 PMID:30270455 |
|
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
|
|
G |
Asprv1 |
aspartic peptidase, retroviral-like 1 |
|
ISO |
Ichthyosis, ASPRV1-related |
OMIA |
PMID:28249031 PMID:34796560 PMID:36006348 PMID:38549226 |
|
NCBI chr 4:119,077,415...119,078,887
Ensembl chr 4:119,077,356...119,078,379
|
|
G |
Flg |
filaggrin |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:178,884,793...178,912,986
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16172043 |
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:18780604 |
RGD:12743608 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
|
|
G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis |
ClinVar |
|
|
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt2 |
keratin 2 |
susceptibility |
ISO |
DNA:mutations |
RGD |
PMID:7524919 |
RGD:1600192 |
NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963
|
|
G |
Mdm2 |
MDM2 proto-oncogene |
treatment |
IMP ISO |
|
RGD |
PMID:24005053 PMID:24005053 |
RGD:10412066, RGD:10412066 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
|
|
G |
Pnpla1 |
patatin-like phospholipase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ichthyosis |
CTD ClinVar |
PMID:22246504 PMID:26691440 PMID:26778108 |
|
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
|
|
G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
|
RGD |
PMID:18832587 |
RGD:10043094 |
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
|
|
G |
Supv3l1 |
Suv3 like RNA helicase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19145458 |
|
NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054
|
|
G |
Tgm1 |
transglutaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis |
ClinVar |
PMID:24824130 PMID:25741868 |
|
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
|
|
|
G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: IFAP syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 |
|
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30431684 |
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Mbtps2 |
membrane-bound transcription factor peptidase, site 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome |
OMIM CTD ClinVar |
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 PMID:24313295 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
|
|
G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome |
ClinVar |
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 |
|
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
|
|
G |
Yy2 |
YY2 transcription factor |
|
ISO |
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr X:37,438,425...37,442,047
Ensembl chr X:37,410,811...37,464,430
|
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis hystrix gravior |
OMIM ClinVar |
PMID:17355236 PMID:27212473 |
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16417221 PMID:21844476 PMID:22834809 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
|
G |
Slc27a4 |
solute carrier family 27 member 4 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis prematurity syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14985385 PMID:16199547 PMID:19631310 PMID:21450060 PMID:21856041 PMID:22927265 PMID:25741868 PMID:26783444 PMID:27025581 PMID:27081519 PMID:27168232 PMID:27224495 PMID:28492532 PMID:30077338 PMID:30536735 PMID:31595490 PMID:31681265 PMID:33935161 More...
|
|
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
|
|
|
G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: FLG-related disorders |
ClinVar |
PMID:17688236 PMID:19654294 PMID:20104584 PMID:20858050 PMID:21120943 PMID:21709188 PMID:23569316 PMID:24728189 PMID:25136594 PMID:25525159 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26681312 PMID:28492532 PMID:29446198 PMID:29487695 PMID:30287823 PMID:33087929 PMID:33471991 More...
|
|
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
|
|
G |
Flg |
filaggrin |
susceptibility |
ISO |
DNA:nonsense mutation, deletion:cds, exon:p.R501X, g.2282delCAGT (human) ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: FLG-related condition | ClinVar Annotator: match by term: FLG-related disorders | ClinVar Annotator: match by term: Ichthyosis vulgaris CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17502856 PMID:18200065 PMID:18325573 PMID:18396323 PMID:18662816 PMID:19183181 PMID:19501237 PMID:19663875 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20674819 PMID:21039602 PMID:21377035 PMID:21428977 PMID:21514438 PMID:21923666 PMID:22220561 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23301728 PMID:23947670 PMID:24033266 PMID:24061166 PMID:24077912 PMID:24565632 PMID:24608987 PMID:24629053 PMID:24920311 PMID:25314673 PMID:25741868 PMID:25997159 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27519469 PMID:28120571 PMID:28143684 PMID:28407221 PMID:28492532 PMID:29056476 PMID:29130490 PMID:29428354 PMID:29444371 PMID:29791750 PMID:30487145 PMID:30665703 PMID:30681730 PMID:31365035 PMID:31637781 PMID:32066784 PMID:33116287 PMID:34008892 PMID:16444271 More...
|
RGD:1598947 |
NCBI chr 2:178,884,793...178,912,986
|
|
G |
Lbr |
lamin B receptor |
|
ISS |
OMIM:146700 |
MouseDO |
|
|
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
|
|
|
G |
Klk11 |
kallikrein related-peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis with erythrokeratoderma |
OMIM ClinVar |
PMID:36689511 PMID:37212630 |
|
NCBI chr 1:94,228,741...94,233,281
Ensembl chr 1:94,228,741...94,233,281
|
|
|
G |
Cldn1 |
claudin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome DNA:deletion, nonsense mutation:exon:200_201delTT(human) |
OMIM CTD ClinVar RGD |
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 PMID:15521008 More...
|
RGD:11341732 |
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
|
|
G |
Cldn16 |
claudin 16 |
|
ISO |
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome |
ClinVar |
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 |
|
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
|
|
|
G |
Elovl4 |
ELOVL fatty acid elongase 4 |
|
ISO |
ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation |
OMIM ClinVar |
PMID:5048218 PMID:11138005 PMID:22100072 PMID:23509295 PMID:24566826 PMID:24833735 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32211516 More...
|
|
NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
|
|
|
G |
Elovl1 |
ELOVL fatty acid elongase 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features |
OMIM ClinVar |
PMID:28492532 PMID:29496980 PMID:30487246 PMID:35379526 |
|
NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958
|
|
|
G |
Ltv1 |
LTV1 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses |
OMIM ClinVar |
PMID:34999892 |
|
NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome |
ClinVar |
PMID:22567369 PMID:25741868 |
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS |
ClinVar |
PMID:9843210 PMID:12019212 PMID:19050930 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27068579 PMID:28492532 More...
|
|
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
|
G |
C12h12orf43 |
similar to human chromosome 12 open reading frame 43 |
|
ISO |
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive |
ClinVar |
PMID:30561130 |
|
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
|
|
G |
Hnf1a |
HNF1 homeobox A |
|
ISO |
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive |
ClinVar |
PMID:30561130 |
|
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28017832 |
|
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
|
|
|
G |
Ctsb |
cathepsin B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keratolytic winter erythema |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
|
|
|
G |
Anxa1 |
annexin A1 |
|
ISO |
|
RGD |
PMID:8919037 |
RGD:7421562 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
|
|
G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Keratosis follicularis OMIM:124200 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:10080178 PMID:10441323 PMID:10441324 PMID:10441325 PMID:11168576 PMID:11244492 PMID:12072062 PMID:16733453 PMID:16766529 PMID:19216760 PMID:20338123 PMID:20423818 PMID:21519848 PMID:23356892 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28035777 PMID:28492532 PMID:30345710 PMID:10080178 More...
|
RGD:734619 |
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
|
|
|
G |
Col20a1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse |
ClinVar |
PMID:29934816 |
|
NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
|
|
G |
Dsg1 |
desmoglein 1 |
|
ISO |
DNA:snp:intron:IVS2-1G>A (human) ClinVar Annotator: match by term: DSG1-related condition | ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:7544663 PMID:10332028 PMID:11122035 PMID:11313759 PMID:15897387 PMID:16484817 PMID:19018793 PMID:19157795 PMID:19558595 PMID:23974871 PMID:24033266 PMID:25741868 PMID:27534273 PMID:27632246 PMID:28492532 PMID:29604126 PMID:30943110 PMID:31130284 PMID:31443639 PMID:34352264 PMID:10332028 More...
|
RGD:1598781 |
NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
|
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3198322 PMID:9536098 PMID:9887343 PMID:10594734 PMID:12101406 PMID:12802069 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19863551 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20400443 PMID:20525856 PMID:20716751 PMID:20864495 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22454510 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23651034 PMID:23671136 PMID:23861362 PMID:23891292 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25163546 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25637381 PMID:25691752 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25825460 PMID:25979592 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26272908 PMID:26332594 PMID:26399581 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30165862 PMID:30276209 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30731207 PMID:30775854 PMID:30847666 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 More...
|
|
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
|
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
|
G |
Ctsc |
cathepsin C |
|
ISO |
ClinVar Annotator: match by term: Haim-Munk syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 PMID:11180012 PMID:11180601 PMID:11886537 PMID:11922261 PMID:12083812 PMID:12112662 PMID:14974080 PMID:15111626 PMID:15585850 PMID:15606524 PMID:15727652 PMID:15857086 PMID:16199547 PMID:16332247 PMID:17576681 PMID:17943190 PMID:18294227 PMID:18401176 PMID:18723326 PMID:18809751 PMID:18945301 PMID:19763152 PMID:19816003 PMID:20236208 PMID:20307669 PMID:22406018 PMID:23108224 PMID:23311634 PMID:23397598 PMID:23556547 PMID:24033266 PMID:24936511 PMID:25741868 PMID:26205983 PMID:26957212 PMID:27062382 PMID:28242153 PMID:28317349 PMID:28492532 PMID:29410039 PMID:29925593 PMID:30548430 PMID:30854815 PMID:31282082 PMID:31925812 PMID:31980526 PMID:33580910 PMID:34341640 PMID:34515563 More...
|
|
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
|
|
G |
Grm5 |
glutamate metabotropic receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Haim-Munk syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274
|
|
G |
Tyr |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: Haim-Munk syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
|
G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Keratosis pilaris atrophicans |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
|
OMIM |
|
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
|
G |
Asprv1 |
aspartic peptidase, retroviral-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis |
OMIM ClinVar |
PMID:6499258 PMID:32516568 |
|
NCBI chr 4:119,077,415...119,078,887
Ensembl chr 4:119,077,356...119,078,379
|
|
|
G |
Serpina12 |
serpin family A member 12 |
|
ISO |
ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type |
ClinVar |
PMID:32247861 |
|
NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
|
|
G |
Slurp1 |
secreted Ly6/Plaur domain containing 1 |
|
ISO ISS |
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease OMIM:248300 |
OMIM ClinVar MouseDO |
PMID:9887370 PMID:11285253 PMID:12483299 PMID:12535203 PMID:12603845 PMID:14674887 PMID:14756676 PMID:17008884 PMID:19692209 PMID:23290002 PMID:24033266 PMID:24093092 PMID:24604124 PMID:25741868 PMID:28492532 PMID:29231248 More...
|
|
NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365
|
|
|
G |
Ap1s1 |
adaptor related protein complex 1 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: MEDNIK syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:splice junction: |
OMIM ClinVar CTD RGD |
PMID:1905767 PMID:16199547 PMID:19057675 PMID:23423674 PMID:25741868 PMID:28492532 PMID:30244301 PMID:19057675 More...
|
RGD:9684947 |
NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
|
|
|
G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: NFJ syndrome | ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8496458 PMID:13141721 PMID:16960809 PMID:25741868 PMID:28492532 |
|
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
|
|
|
G |
Serpinb7 |
serpin family B member 7 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type | ClinVar Annotator: match by term: SERPINB7-related condition |
OMIM ClinVar |
PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:27543371 PMID:27569382 PMID:27666198 PMID:28439958 PMID:28492532 PMID:30256384 PMID:33362511 PMID:35178744 More...
|
|
NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
|
|
|
G |
Jup |
junction plakoglobin |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR |
OMIM ClinVar CTD |
PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 PMID:18672408 PMID:18937352 PMID:19067702 PMID:19863551 PMID:20031617 PMID:20130592 PMID:20152563 PMID:20525856 PMID:20857253 PMID:20864495 PMID:21320868 PMID:21606396 PMID:21668431 PMID:21859740 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24238504 PMID:24503780 PMID:24704780 PMID:24884844 PMID:25351510 PMID:25363760 PMID:25363768 PMID:25445213 PMID:25616645 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26073755 PMID:26220970 PMID:26230511 PMID:26272908 PMID:27005929 PMID:27037756 PMID:27157848 PMID:27532257 PMID:27662471 PMID:27707468 PMID:27930701 PMID:28098346 PMID:28166811 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28798025 PMID:28831623 PMID:28855170 PMID:29247119 PMID:29334134 PMID:29350269 PMID:29517769 PMID:29606362 PMID:29619247 PMID:29892012 PMID:30206291 PMID:30453078 PMID:30615648 PMID:30775854 PMID:30847666 PMID:31275992 PMID:31402444 PMID:31539150 PMID:31737537 PMID:31983221 PMID:32212272 PMID:32233023 PMID:32268277 PMID:32746448 PMID:32880476 PMID:33500567 PMID:33673806 PMID:33919104 PMID:34011629 PMID:34026867 PMID:34076677 PMID:34500006 PMID:35087879 PMID:35091851 PMID:35581137 More...
|
|
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
|
|
|
G |
C18h5orf46 |
similar to human chromosome 5 open reading frame 46 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis linearis circumflexa |
ClinVar |
PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 PMID:34138484 More...
|
|
NCBI chr18:35,948,402...35,969,502
Ensembl chr18:35,948,402...35,969,502
|
|
G |
Gba1 |
glucosylceramidase beta 1 |
severity |
ISO |
protein:decreased expression:epidermis stratum corneum |
RGD |
PMID:16601670 |
RGD:5508433 |
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis linearis circumflexa |
ClinVar |
PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 PMID:34138484 More...
|
|
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
|
|
G |
Spink1 |
serine peptidase inhibitor, Kazal type 1 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis linearis circumflexa |
ClinVar |
PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 PMID:34138484 More...
|
|
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
|
|
G |
Spink5 |
serine peptidase inhibitor, Kazal type 5 |
|
ISO ISS |
ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome OMIM:256500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 PMID:12752122 PMID:12923596 PMID:15304086 PMID:15656819 PMID:16199547 PMID:16601670 PMID:16628198 PMID:17415575 PMID:17576681 PMID:18577046 PMID:19683336 PMID:19840201 PMID:20107740 PMID:20657595 PMID:21255986 PMID:21564178 PMID:22089833 PMID:22377713 PMID:23331056 PMID:24015757 PMID:24033266 PMID:25640679 PMID:25665175 PMID:25710899 PMID:25741868 PMID:25819062 PMID:26031502 PMID:26193622 PMID:26229701 PMID:26865388 PMID:27905021 PMID:27988933 PMID:28289593 PMID:28492532 PMID:28832562 PMID:28832989 PMID:28943498 PMID:29444371 PMID:29926005 PMID:30293248 PMID:30477583 PMID:31288584 PMID:31795557 PMID:31953843 PMID:32441320 PMID:32459284 PMID:32573669 PMID:32709676 PMID:33452875 PMID:34138484 PMID:34604321 PMID:36169939 More...
|
|
NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185
|
|
G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20657595 |
|
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
|
|
|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
|
|
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
|
|
G |
Psat1 |
phosphoserine aminotransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
|
|
|
G |
Pnpla2 |
patatin-like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 PMID:35460704 |
|
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
|
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar hyperkeratosis |
CTD ClinVar |
PMID:19470048 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
|
|
G |
Krt16 |
keratin 16 |
|
ISS |
OMIM:600962 | OMIM:613000 | OMIM:615735 |
MouseDO |
|
|
NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
|
|
|
G |
Perp |
p53 apoptosis effector related to PMP22 |
|
ISO |
ClinVar Annotator: match by term: Olmsted syndrome 2 |
OMIM ClinVar |
PMID:30321533 PMID:31361044 |
|
NCBI chr 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511
|
|
|
G |
Rspo1 |
R-spondin 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism |
ClinVar |
PMID:18085567 |
|
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
|
|
|
G |
Rspo1 |
R-spondin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal |
OMIM CTD ClinVar |
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia |
OMIM ClinVar |
PMID:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 PMID:28492532 PMID:30628995 More...
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome |
ClinVar |
PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 PMID:12802069 PMID:15210133 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19597050 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25856671 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:26899768 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27854218 PMID:27884173 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29511324 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30354334 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30699244 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31333075 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32516855 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33762593 PMID:33857019 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34033898 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 PMID:37937776 More...
|
|
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
|
|
G |
Kank2 |
KN motif and ankyrin repeat domains 2 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair |
OMIM ClinVar |
PMID:24671081 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
|
|
G |
Tuft1 |
tuftelin 1 |
|
ISO |
ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome |
ClinVar |
PMID:36689522 |
|
NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
|
|
|
G |
Dsg1 |
desmoglein 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma |
ClinVar |
PMID:25741868 |
|
NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G130V(human) DNA:misense mutation:cds:c.224G>A (p.R75Q)(human) DNA:mutation:cds:p.H73R(human) DNA:missense mutation:cds:p.S183F(human) |
OMIM ClinVar CTD RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20890442 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:36474027 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:18688874 PMID:24975403 PMID:17993581 PMID:18787097 More...
|
RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome |
ClinVar |
PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104 PMID:11069477 PMID:11175301 PMID:20301595 PMID:31965079 PMID:32906214 More...
|
|
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
|
G |
Rhbdf2 |
rhomboid 5 homolog 2 |
|
ISO ISS |
OMIM:148500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer |
OMIM MouseDO CTD ClinVar |
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283
|
|
|
G |
Aagab |
alpha- and gamma-adaptin binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar keratoderma |
CTD ClinVar |
PMID:23064416 PMID:25741868 |
|
NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
|
|
G |
Fam83g |
family with sequence similarity 83, member G |
|
ISO |
Hyperkeratosis, palmoplantar, FAM83G-related |
OMIA |
PMID:10701186 PMID:12828257 PMID:24832243 PMID:26747202 PMID:29963719 PMID:34796560 PMID:37582787 More...
|
|
NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
DNA:mutation:cds:c.23G>A,p.G8V(human) |
RGD |
PMID:25168385 |
RGD:12910125 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16172043 |
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Jup |
junction plakoglobin |
|
ISO |
Naxos disease, OMIM:601214 |
RGD |
PMID:10902626 |
RGD:1600286 |
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
|
|
G |
Krt9 |
keratin 9 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma |
ClinVar |
PMID:1385292 PMID:2531643 PMID:7512862 PMID:7516304 PMID:7523529 PMID:7532199 PMID:12838553 PMID:17074468 PMID:19106041 PMID:19223272 PMID:22262370 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
|
|
G |
Sash1 |
SAM and SH3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma |
ClinVar |
PMID:25315659 |
|
NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
|
|
G |
Slurp1 |
secreted Ly6/Plaur domain containing 1 |
|
ISO |
DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25168896 PMID:11285253 |
RGD:1599051 |
NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365
|
|
G |
Slurp2 |
secreted Ly6/Plaur domain containing 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 7:106,627,775...106,631,655
Ensembl chr 7:106,627,775...106,631,655
|
|
G |
Tuft1 |
tuftelin 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
|
|
G |
Wnt10a |
Wnt family member 10A |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma |
ClinVar |
PMID:24449199 PMID:28492532 |
|
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
|
|
|
G |
Ctsc |
cathepsin C |
|
ISO |
DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:15585850 PMID:16008657 PMID:18723326 PMID:18809751 PMID:19816003 PMID:23108224 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:26205983 PMID:26957212 PMID:27062382 PMID:28242153 PMID:28317349 PMID:28492532 PMID:29410039 PMID:29925593 PMID:31925812 PMID:33586345 PMID:34515563 PMID:10593994 More...
|
RGD:1599638 |
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
|
|
|
G |
Krt14 |
keratin 14 |
|
IEP |
|
RGD |
PMID:15809047 |
RGD:1600175 |
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
|
|
G |
Suv39h2 |
SUV39H2 histone lysine methyltransferase |
|
ISO |
Nasal parakeratosis |
OMIA |
PMID:12662268 PMID:12895224 PMID:24098150 PMID:29423952 PMID:32119674 PMID:37582787 More...
|
|
NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
|
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive |
OMIM ClinVar |
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11734544 PMID:12116233 PMID:12820975 PMID:15982307 PMID:16135823 PMID:16199547 PMID:17576681 PMID:18470933 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26577220 PMID:26884178 PMID:27085493 PMID:27396511 PMID:27504877 PMID:27607234 PMID:28492532 PMID:29141312 PMID:29607586 PMID:29625052 PMID:29754767 PMID:30136158 PMID:31282071 PMID:31803976 PMID:31980526 PMID:34308104 PMID:35477182 PMID:35699229 PMID:36033485 PMID:36259739 More...
|
|
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
|
|
G |
Gtf2h5 |
general transcription factor IIH subunit 5 |
|
ISO |
|
RGD |
PMID:22824526 |
RGD:7246919 |
NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
|
|
G |
Mplkip |
M-phase specific PLK1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive |
ClinVar |
|
|
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
|
|
|
G |
Cast |
calpastatin |
|
ISO |
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
OMIM ClinVar |
PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
|
|
G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
ClinVar |
PMID:3527073 PMID:25683118 |
|
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
|
|
|
G |
Mvd |
mevalonate diphosphate decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Linear porokeratosis |
ClinVar |
PMID:25741868 PMID:26202976 PMID:30942823 PMID:31449901 PMID:32767669 PMID:33005717 PMID:33491095 More...
|
|
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
|
|
G |
Pmvk |
phosphomevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Linear porokeratosis |
ClinVar |
PMID:25741868 PMID:30942823 |
|
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
|
|
|
G |
Pmvk |
phosphomevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Porokeratosis 1, multiple types |
OMIM ClinVar |
PMID:25741868 PMID:26202976 PMID:30942823 |
|
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
|
|
|
G |
Mmab |
metabolism of cobalamin associated B |
|
ISO |
ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26202976 PMID:28492532 |
|
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
|
|
G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16234278 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17171314 PMID:17576681 PMID:18414213 PMID:18839211 PMID:18941711 PMID:19011501 PMID:19120372 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24656624 PMID:24781643 PMID:24794831 PMID:25149390 PMID:25502423 PMID:25677409 PMID:25708585 PMID:25721923 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:26990548 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27387687 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:29599418 PMID:29624229 PMID:31096039 PMID:31278138 PMID:31430439 PMID:31474985 PMID:31664448 PMID:32060250 PMID:32312770 PMID:32441320 PMID:32822427 PMID:33168400 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 PMID:35525811 More...
|
|
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
|
|
G |
Sart3 |
spliceosome associated factor 3, U4/U6 recycling protein |
|
ISO |
ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 |
ClinVar |
PMID:15840095 PMID:17392836 |
|
NCBI chr12:42,859,026...42,887,041
Ensembl chr12:42,859,305...42,887,038
|
|
|
---|
|