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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:ichthyosis
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Accession:DOID:1697 term browser browse the term
Definition:A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. (DO)
Synonyms:exact_synonym: Ichthyoses;   non-syndromic ichthyosis;   xeroderma;   xerodermas
 narrow_synonym: Ichthyosis, ASPRV1-related
 primary_id: MESH:D007057
 alt_id: OMIA:002099
 xref: NCI:C84776;   OMIM:PS146590;   ORDO:79354
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 PMID:26274329 PMID:26578203 PMID:30270455 NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
G Asprv1 aspartic peptidase retroviral like 1 ISO Ichthyosis, ASPRV1-related OMIA PMID:28249031 PMID:34796560 NCBI chrNW_004936491:14,170,232...14,171,830
Ensembl chrNW_004936491:14,170,793...14,171,830 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chrNW_004936492:3,795,940...3,805,822
Ensembl chrNW_004936492:3,795,940...3,805,774 		JBrowse link
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
G Krt2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chrNW_004936512:10,054,708...10,061,021
Ensembl chrNW_004936512:10,054,708...10,061,021 		JBrowse link
G Mdm2 MDM2 proto-oncogene treatment ISO RGD PMID:24005053 RGD:10412066 NCBI chrNW_004936545:6,709,903...6,732,334 JBrowse link
G Pnpla1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:26691440 PMID:26778108 NCBI chrNW_004936476:23,066,840...23,100,126
Ensembl chrNW_004936476:23,061,854...23,099,720 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chrNW_004936521:9,237,081...9,264,441
Ensembl chrNW_004936521:9,237,120...9,264,358 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 PMID:25741868 NCBI chrNW_004936722:292,999...306,540
Ensembl chrNW_004936722:292,143...306,572 		JBrowse link
Annular Epidermolytic Ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More... NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO OMIM NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
Annular Epidermolytic Ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
atrophoderma vermiculata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Atrophoderma vermiculata ClinVar PMID:26142438 NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456 		JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO 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
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936586:1,938,617...2,094,231
Ensembl chrNW_004936586:1,938,617...2,094,279 		JBrowse link
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 More... NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985 		JBrowse link
G Aloxe3 arachidonate 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 More... NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
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 chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G LOC101958833 ceramide synthase 3 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:28875980 PMID:30578701 PMID:33492757 NCBI chrNW_004936483:3,276,519...3,365,054
Ensembl chrNW_004936483:3,206,110...3,229,939
Ensembl chrNW_004936483:3,206,110...3,229,939 		JBrowse link
G LOC101977389 cytochrome P450 4F22 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 More... NCBI chrNW_004936596:4,987,577...5,006,459
Ensembl chrNW_004936596:4,984,831...5,006,622 		JBrowse link
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 More... NCBI chrNW_004936515:5,687,364...5,699,153
Ensembl chrNW_004936515:5,687,523...5,695,845 		JBrowse link
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 More... NCBI chrNW_004936476:23,066,840...23,100,126
Ensembl chrNW_004936476:23,061,854...23,099,720 		JBrowse link
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:31012992 More... NCBI chrNW_004936646:1,170,855...1,190,797
Ensembl chrNW_004936646:1,171,736...1,182,929 		JBrowse link
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 More... NCBI chrNW_004936487:15,877,075...15,905,752
Ensembl chrNW_004936487:15,876,606...15,906,003
Ensembl chrNW_004936487:15,876,606...15,906,003 		JBrowse link
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 More... NCBI chrNW_004936722:292,999...306,540
Ensembl chrNW_004936722:292,143...306,572 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma ClinVar PMID:29417556 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273 		JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12915478 PMID:16675967 RGD:1598548 NCBI chrNW_004936586:1,938,617...2,094,231
Ensembl chrNW_004936586:1,938,617...2,094,279 		JBrowse link
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chrNW_004936695:1,644,758...1,672,024
Ensembl chrNW_004936695:1,644,581...1,672,117 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11773004 PMID:21739938 RGD:1599073 NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chrNW_004936664:2,626,810...2,655,290
Ensembl chrNW_004936664:2,626,764...2,655,340 		JBrowse link
G Tgm1 transglutaminase 1 ISO 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
ClinVar		 PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... NCBI chrNW_004936722:292,999...306,540
Ensembl chrNW_004936722:292,143...306,572 		JBrowse link
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 More... NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492 		JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678 		JBrowse link
G Pnpla1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition OMIM
ClinVar		 PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More... NCBI chrNW_004936476:23,066,840...23,100,126
Ensembl chrNW_004936476:23,061,854...23,099,720 		JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 OMIM
ClinVar		 PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 More... NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742 		JBrowse link
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp14 caspase 14 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 OMIM
ClinVar		 PMID:25741868 PMID:27494380 PMID:28492532 NCBI chrNW_004936596:5,396,866...5,399,255
Ensembl chrNW_004936596:5,396,866...5,399,278 		JBrowse link
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More... NCBI chrNW_004936646:1,170,855...1,190,797
Ensembl chrNW_004936646:1,171,736...1,182,929 		JBrowse link
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936664:2,626,810...2,655,290
Ensembl chrNW_004936664:2,626,764...2,655,340 		JBrowse link
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar		 PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More... NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 More... NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:17496163 PMID:28575648 NCBI chrNW_004936664:2,626,810...2,655,290
Ensembl chrNW_004936664:2,626,764...2,655,340 		JBrowse link
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 OMIM
ClinVar		 PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 More... NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354 		JBrowse link
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A OMIM
ClinVar		 PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16199547 More... NCBI chrNW_004936586:1,938,617...2,094,231
Ensembl chrNW_004936586:1,938,617...2,094,279 		JBrowse link
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B OMIM
ClinVar		 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 More... NCBI chrNW_004936586:1,938,617...2,094,231
Ensembl chrNW_004936586:1,938,617...2,094,279 		JBrowse link
G Cst6 cystatin E/M ISO OMIM:242500 MouseDO NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis class A ISO OMIM:242500 MouseDO NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985 		JBrowse link
G Prss8 serine protease 8 ISO OMIM:242500 MouseDO NCBI chrNW_004936501:13,487,863...13,491,837
Ensembl chrNW_004936501:13,485,310...13,491,905 		JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101977389 cytochrome P450 4F22 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 More... NCBI chrNW_004936596:4,987,577...5,006,459
Ensembl chrNW_004936596:4,984,831...5,006,622 		JBrowse link
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936515:5,687,364...5,699,153
Ensembl chrNW_004936515:5,687,523...5,695,845 		JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipn lipase family member N ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936735:445,985...464,340
Ensembl chrNW_004936735:445,985...464,340 		JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101958833 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 chrNW_004936483:3,276,519...3,365,054
Ensembl chrNW_004936483:3,206,110...3,229,939
Ensembl chrNW_004936483:3,206,110...3,229,939 		JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma ClinVar PMID:12406348 PMID:25741868 PMID:28492532 PMID:30288772 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
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 More... NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
G Krt2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition OMIM
ClinVar		 PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 More... NCBI chrNW_004936512:10,054,708...10,061,021
Ensembl chrNW_004936512:10,054,708...10,061,021 		JBrowse link
Chanarin-Dorfman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM
ClinVar		 PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 More... NCBI chrNW_004936695:1,644,758...1,672,024
Ensembl chrNW_004936695:1,644,581...1,672,117 		JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:25741868 PMID:28492532 NCBI chrNW_004936695:1,726,380...1,904,399
Ensembl chrNW_004936695:1,726,141...1,900,040 		JBrowse link
G Cdhr5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:449,846...457,881
Ensembl chrNW_004936888:449,976...457,618 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:554,859...557,759
Ensembl chrNW_004936888:554,822...557,713 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:473,651...497,152
Ensembl chrNW_004936888:473,974...497,158 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:468,334...471,254
Ensembl chrNW_004936888:468,403...471,205 		JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:506,144...523,280
Ensembl chrNW_004936888:506,138...523,302 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:542,472...547,296
Ensembl chrNW_004936888:543,105...547,296 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:445,340...448,801
Ensembl chrNW_004936888:445,549...448,392 		JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:397,581...403,551
Ensembl chrNW_004936888:396,629...403,614 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:418,089...445,032
Ensembl chrNW_004936888:418,042...448,434 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:565,889...571,273
Ensembl chrNW_004936888:565,912...571,247 		JBrowse link
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 More... NCBI chrNW_004936888:580,773...585,949
Ensembl chrNW_004936888:580,767...587,083 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:403,668...406,415
Ensembl chrNW_004936888:403,690...406,402 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:574,896...577,567
Ensembl chrNW_004936888:574,583...577,640 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:459,168...459,919
Ensembl chrNW_004936888:459,247...459,911 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:558,064...565,576
Ensembl chrNW_004936888:558,045...565,782 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:531,002...540,194
Ensembl chrNW_004936888:531,020...540,820 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chrNW_004936888:501,065...504,465
Ensembl chrNW_004936888:501,801...504,378 		JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome OMIM
ClinVar		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... NCBI chrNW_004936821:290,240...381,126
Ensembl chrNW_004936821:288,026...381,172 		JBrowse link
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
epidermolytic hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Gjb3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chrNW_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729 		JBrowse link
G Gjb4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chrNW_004936474:17,407,209...17,409,657
Ensembl chrNW_004936474:17,408,623...17,409,423 		JBrowse link
G Jup junction plakoglobin ISO OMIM:113800 MouseDO NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		JBrowse link
G Krt1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma		 RGD
ClinVar		 PMID:1284546 PMID:1380725 PMID:1381288 PMID:11286616 PMID:12406348 More... RGD:1600166 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
G Krt10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human)
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic Hyperkeratosis		 RGD
ClinVar		 PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 More... RGD:1600168 NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
epidermolytic hyperkeratosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 OMIM
ClinVar		 PMID:25741868 PMID:30288772 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
epidermolytic hyperkeratosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2 OMIM
ClinVar		 PMID:25741868 PMID:25741905 NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
HID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936657:3,343,675...3,395,877
Ensembl chrNW_004936657:3,341,242...3,395,957 		JBrowse link
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776 		JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome OMIM
ClinVar		 PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chrNW_004936624:2,464,152...2,510,984
Ensembl chrNW_004936624:2,463,909...2,511,158 		JBrowse link
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 chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chrNW_004936624:2,487,983...2,489,630 JBrowse link
Ichthyosis Hystrix Gravior term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO OMIM NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type OMIM
ClinVar		 PMID:16417221 PMID:21844476 PMID:22834809 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Ichthyosis prematurity syndrome OMIM
ClinVar		 PMID:16199547 PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 More... NCBI chrNW_004936487:15,877,075...15,905,752
Ensembl chrNW_004936487:15,876,606...15,906,003
Ensembl chrNW_004936487:15,876,606...15,906,003 		JBrowse link
ichthyosis vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G Lbr lamin B receptor ISO OMIM:146700 MouseDO NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785 		JBrowse link
Ichthyosis with Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106145454 kallikrein-11 ISO ClinVar Annotator: match by term: Ichthyosis with erythrokeratoderma OMIM
ClinVar		 PMID:36689511 PMID:37212630 NCBI chrNW_004936889:668,972...673,577
Ensembl chrNW_004936889:668,105...673,571 		JBrowse link
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM
ClinVar		 PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 NCBI chrNW_004936578:98,489...113,125
Ensembl chrNW_004936578:98,273...113,153 		JBrowse link
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 chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350 		JBrowse link
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936510:10,246,901...10,276,049
Ensembl chrNW_004936510:10,246,356...10,276,753 		JBrowse link
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936474:24,765,173...24,769,903
Ensembl chrNW_004936474:24,764,718...24,769,947 		JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf43 chromosome unknown C12orf43 homolog ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chrNW_004936668:51,572...61,873
Ensembl chrNW_004936668:51,531...61,403 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505 		JBrowse link
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 chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392 		JBrowse link
keratosis pilaris atrophicans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris atrophicans OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456 		JBrowse link
Lamellar Ichthyosis, Autosomal Dominant Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asprv1 aspartic peptidase retroviral like 1 ISO ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis OMIM
ClinVar		 PMID:6499258 PMID:32516568 NCBI chrNW_004936491:14,170,232...14,171,830
Ensembl chrNW_004936491:14,170,793...14,171,830 		JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798 		JBrowse link
G Spink5 serine peptidase inhibitor Kazal type 5 ISO 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
ClinVar		 PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 More... NCBI chrNW_004936504:6,653,703...6,750,110 JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264 		JBrowse link
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35460704 NCBI chrNW_004936888:580,773...585,949
Ensembl chrNW_004936888:580,767...587,083 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chrNW_004936478:15,421,612...15,423,894
Ensembl chrNW_004936478:15,420,463...15,423,946 		JBrowse link
Reticular Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma ClinVar PMID:25774499 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma | ClinVar Annotator: match by term: ICHTHYOSIS WITH CONFETTI OMIM
ClinVar		 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:9418775 More... NCBI chrNW_004936490:15,783,636...15,788,605
Ensembl chrNW_004936490:15,783,618...15,788,634 		JBrowse link
Sjogren-Larsson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Fatty aldehyde dehydrogenase deficiency | ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia OMIM
ClinVar		 PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 More... NCBI chrNW_004936881:127,090...150,269
Ensembl chrNW_004936881:127,023...150,292 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chrNW_004936498:1,088,345...1,112,108
Ensembl chrNW_004936498:1,088,230...1,104,275 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chrNW_004936498:1,077,354...1,088,003
Ensembl chrNW_004936498:1,077,422...1,088,003 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS OMIM
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chrNW_004936498:849,775...1,063,552
Ensembl chrNW_004936498:849,739...1,063,552 		JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chrNW_004936644:1,091,794...1,113,621
Ensembl chrNW_004936644:1,093,388...1,112,557 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:31690835 NCBI chrNW_004936644:1,427,003...1,460,421 JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis OMIM
ClinVar		 PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 More... NCBI chrNW_004936644:1,328,327...1,395,856
Ensembl chrNW_004936644:1,325,713...1,395,923 		JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked OMIM
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chrNW_004936624:2,464,152...2,510,984
Ensembl chrNW_004936624:2,463,909...2,511,158 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chrNW_004936624:2,487,983...2,489,630 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        keratosis 171
          ichthyosis 86
            Acquired Ichthyosis 0
            CHIME syndrome 1
            Camptodactyly-Ichthyosis Syndrome 0
            Cataract and Congenital Ichthyosis 0
            Congenital Ichthyosis with Trichothiodystrophy + 2
            Deal Barratt Dillon Syndrome 0
            Dykes Markes Harper Syndrome 0
            Grover's Disease 0
            HID Syndrome 1
            ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
            IFAP Syndrome + 4
            Ichthyosis Cheek Eyebrow Syndrome 0
            Ichthyosis Exfoliativa 0
            Ichthyosis Hystrix + 2
            Ichthyosis Prematurity Syndrome 1
            Ichthyosis Tapered Fingers Midline Groove Up 0
            Ichthyosis with Erythrokeratoderma 1
            Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
            Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
            Ichthyosis, Split Hairs, and Amino Aciduria 0
            Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
            Jagell Holmgren Hofer Syndrome 0
            Keratitis-Ichthyosis-Deafness Syndrome + 2
            Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
            Koone Rizzo Elias Syndrome 0
            Lamellar Ichthyosis, Autosomal Dominant Form 1
            Neu-Laxova syndrome 1 2
            Osteosclerosis with Ichthyosis and Fractures 0
            Rud Syndrome 0
            Ruzicka Goerz Anton syndrome 0
            Sammartino De Crecchio Syndrome 0
            Sjogren-Larsson syndrome + 1
            Stormorken syndrome 3
            Trichodysplasia-Xeroderma 0
            X-linked ichthyosis + 3
            autosomal recessive congenital ichthyosis + 49
            bullous congenital ichthyosiform erythroderma 3
            epidermolytic hyperkeratosis + 7
            ichthyosis vulgaris + 2
            ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
            keratosis pilaris atrophicans + 3
            xeroderma of eyelid 0
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Skin Abnormalities 1226
                ichthyosis 86
                  Acquired Ichthyosis 0
                  CHIME syndrome 1
                  Camptodactyly-Ichthyosis Syndrome 0
                  Cataract and Congenital Ichthyosis 0
                  Congenital Ichthyosis with Trichothiodystrophy + 2
                  Deal Barratt Dillon Syndrome 0
                  Dykes Markes Harper Syndrome 0
                  Grover's Disease 0
                  HID Syndrome 1
                  ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
                  IFAP Syndrome + 4
                  Ichthyosis Cheek Eyebrow Syndrome 0
                  Ichthyosis Exfoliativa 0
                  Ichthyosis Hystrix + 2
                  Ichthyosis Prematurity Syndrome 1
                  Ichthyosis Tapered Fingers Midline Groove Up 0
                  Ichthyosis with Erythrokeratoderma 1
                  Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
                  Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
                  Ichthyosis, Split Hairs, and Amino Aciduria 0
                  Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
                  Jagell Holmgren Hofer Syndrome 0
                  Keratitis-Ichthyosis-Deafness Syndrome + 2
                  Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
                  Koone Rizzo Elias Syndrome 0
                  Lamellar Ichthyosis, Autosomal Dominant Form 1
                  Neu-Laxova syndrome 1 2
                  Osteosclerosis with Ichthyosis and Fractures 0
                  Rud Syndrome 0
                  Ruzicka Goerz Anton syndrome 0
                  Sammartino De Crecchio Syndrome 0
                  Sjogren-Larsson syndrome + 1
                  Stormorken syndrome 3
                  Trichodysplasia-Xeroderma 0
                  X-linked ichthyosis + 3
                  autosomal recessive congenital ichthyosis + 49
                  bullous congenital ichthyosiform erythroderma 3
                  epidermolytic hyperkeratosis + 7
                  ichthyosis vulgaris + 2
                  ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
                  keratosis pilaris atrophicans + 3
                  xeroderma of eyelid 0
paths to the root