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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:keratosis
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Accession:DOID:161 term browser browse the term
Definition:Any horny growth such as a wart or callus.
Synonyms:exact_synonym: Keratoderma Blennorrhagicum;   Keratoderma Blennorrhagicums;   Keratoma;   Keratomas;   Keratoses;   Keratosis Blennorrhagica;   Keratosis Blennorrhagicas
 primary_id: MESH:D007642;   RDO:0000664
 xref: NCI:C34747
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 7:17,949,254...17,998,737 JBrowse link
G CAT catalase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-262C>T(rs1001179)(human)
CTD
RGD
PMID:14580687 RGD:9479152 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:12485442 RGD:7488960 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
JBrowse link
G MPO myeloperoxidase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-463G>T(rs2333227)(human)
CTD
RGD
PMID:14580687 RGD:9479152 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16930632, PMID:28785074 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
acrokeratosis verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO OMIM NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr15:19,316,854...19,328,425 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Alopecia congenita keratosis palmoplantaris ClinVar PMID:25168385 NCBI chr 6:119,213,513...119,227,617 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: Vermiculata atrophoderma ClinVar PMID:26142438 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
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 OMIM NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
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 NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar PMID:16116617, PMID:18347291, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr19:15,039,212...15,083,771
Ensembl chr19:16,041,583...16,068,490
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 5:152,856,602...152,871,218
Ensembl chr 5:159,472,383...159,492,182
JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar PMID:3757302, PMID:24344921, PMID:28369476, PMID:28403545 NCBI chr 6:35,828,778...35,872,129
Ensembl chr 6:37,002,466...37,067,190
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:7581379, PMID:11407995, PMID:11511296, PMID:16968736, PMID:19212342, PMID:19262603, PMID:19863506, PMID:19890349, PMID:20167857, PMID:21895619, PMID:22801880, PMID:23895935, PMID:24033266, PMID:24419105, PMID:25741868, PMID:26076875, PMID:26762237, PMID:27025581, PMID:28403434, PMID:28492532 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
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 CTD
RGD
PMID:12915478, PMID:16675967 RGD:1598548 NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11773004, PMID:21739938 RGD:1599073 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:28575648 NCBI chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
JBrowse link
G TGM1 transglutaminase 1 ISO OMIM NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA1 patatin like phospholipase domain containing 1 ISO OMIM NCBI chr 6:35,828,778...35,872,129
Ensembl chr 6:37,002,466...37,067,190
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 OMIM NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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 OMIM NCBI chr19:14,594,810...14,604,109
Ensembl chr19:15,565,543...15,574,402
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 OMIM NCBI chr12:31,983,412...31,994,584
Ensembl chr12:32,236,402...32,247,688
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 OMIM NCBI chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
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 OMIM NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD
ClinVar
PMID:25741868 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:17496163, PMID:28575648 NCBI chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
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 OMIM NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
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 OMIM NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
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 OMIM NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO OMIM NCBI chr19:15,039,212...15,083,771
Ensembl chr19:16,041,583...16,068,490
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 OMIM NCBI chr 5:152,856,602...152,871,218
Ensembl chr 5:159,472,383...159,492,182
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 OMIM NCBI chr10:85,485,727...85,505,268
Ensembl chr10:88,990,571...89,007,327
JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS3 ceramide synthase 3 ISO OMIM NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775
JBrowse link
Bart-Pumphrey 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 OMIM NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:119,213,513...119,227,617 JBrowse link
Bothnian type palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP5 aquaporin 5 ISO OMIM NCBI chr12:38,789,505...38,793,305
Ensembl chr12:39,684,008...39,687,127
JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO OMIM NCBI chr12:36,111,978...36,119,684
Ensembl chr12:36,889,619...36,896,813
JBrowse link
Burnett Schwartz Berberian Syndrome 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 ClinVar PMID:26142438, PMID:28381441 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SASH1 SAM and SH3 domain containing 1 ISO OMIM NCBI chr 6:146,154,178...146,368,101
Ensembl chr 6:150,863,677...151,075,816
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNAP29 synaptosome associated protein 29 ISO OMIM NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931
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 OMIM NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
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 OMIM NCBI chr17:35,122,347...35,252,800
Ensembl chr2A:110,417,770...110,546,387
JBrowse link
cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EREG epiregulin ISO mRNA:increased expression:external acoustic meatus (human) RGD PMID:24256036 RGD:39457690 NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568
JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:1384343, PMID:8725537 RGD:7401205, RGD:7401208 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
cholesteatoma of middle ear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:7503375, PMID:12768791 RGD:11059515, RGD:7794712 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 Ensembl chr2A:103,193,131...103,230,005 JBrowse link
G IL2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL6 interleukin 6 ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:8652157, PMID:21311206 RGD:7364848, RGD:7829727 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
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 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OMIM NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
JBrowse link
Congenital Cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 ISO OMIM NCBI chr18:24,543,061...24,579,085
Ensembl chr18:28,078,131...28,175,803
JBrowse link
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 ISO OMIM NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type ClinVar PMID:10441324 NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
JBrowse link
Darier Disease, Segmental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, segmental ClinVar PMID:11121153 NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
JBrowse link
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT9 keratin 9 ISO EPPK, OMIM:144200 RGD PMID:7512862 RGD:1600065 NCBI chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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: Epidermolytic hyperkeratosis
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar PMID:30311386 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 1:34,048,136...34,053,298 JBrowse link
G GJB4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
G KRT10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human) OMIM
RGD
PMID:7512983 RGD:1600168 NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A OMIM
RGD
PMID:11286616 RGD:1600166 NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
G LOC100993221 transmembrane protein 99 (putative) ISO ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar PMID:1380725, PMID:1381287, PMID:2182100, PMID:7508181, PMID:7512983, PMID:7526210, PMID:16505000, PMID:18219278, PMID:20302579, PMID:25741868 NCBI chr17:16,447,929...16,465,165 JBrowse link
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970659 keratin, type II cytoskeletal 1 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis, late-onset ClinVar PMID:12648226 NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT16 keratin 16 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis ClinVar PMID:25741868, PMID:28492532 NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
JBrowse link
G KRT9 keratin 9 ISO OMIM NCBI chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads ClinVar PMID:1385292, PMID:2531643, PMID:7512862, PMID:7523529, PMID:12192490, PMID:12838553, PMID:17074468, PMID:19106041, PMID:25741868 NCBI chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
JBrowse link
erythrokeratodermia variabilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
DNA:missense mutations:cds:p.G12D, p.L209F (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:cds:p.R42P (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
RGD
CTD
PMID:9843209, PMID:10594760, PMID:10798362, PMID:15948974, PMID:16297190, PMID:21188847, PMID:22681493, PMID:25556823 RGD:11097171, RGD:11251416, RGD:12050153, RGD:12436729, RGD:12436731, RGD:12436734, RGD:12437067, RGD:1578480 NCBI chr 1:34,048,136...34,053,298 JBrowse link
G GJB4 gap junction protein beta 4 ISO DNA:missense mutation: :p.F137L (human)
DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
RGD PMID:11017804, PMID:12648223, PMID:23037955 RGD:12437072, RGD:1598970, RGD:1598971 NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr 1:34,048,136...34,053,298 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB4 gap junction protein beta 4 ISO OMIM NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 6:119,213,513...119,227,617 JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDSR 3-ketodihydrosphingosine reductase ISO OMIM NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292
JBrowse link
erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO OMIM NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.V30I (c.G88A) (human)
DNA:missense mutation:CDS:p.L34P (101T>C) (human)
RGD PMID:12019212, PMID:21564177 RGD:12050155, RGD:12436733 NCBI chr 1:34,048,136...34,053,298 JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:8595410, PMID:16250206, PMID:25741868 NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
JBrowse link
G KRT6C keratin 6C ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:19609311 NCBI chr12:36,290,422...36,295,663 JBrowse link
focal nonepidermolytic palmoplantar keratoderma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT16 keratin 16 ISO OMIM NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 ClinVar NCBI chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
focal or diffuse nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6C keratin 6C ISO OMIM NCBI chr12:36,290,422...36,295,663 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 OMIM NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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 OMIM NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007
JBrowse link
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: Ichthyosis ClinVar PMID:30311386 NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:10811882, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16541094, PMID:18800149, PMID:22209248, PMID:25741868, PMID:28102862, PMID:30311386 NCBI chr16:21,443,980...21,477,163 JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:29286531, PMID:30311386 NCBI chr 5:121,946,527...122,000,273 JBrowse link
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:30311386 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:53,309,868...53,331,151
Ensembl chr  X:63,396,392...63,399,802
JBrowse link
G ANKRD11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:11157798, PMID:15172985, PMID:15184261, PMID:15235020, PMID:16267036, PMID:17305420, PMID:17308087, PMID:20104584, PMID:20378548, PMID:20516115, PMID:21232165, PMID:21447777, PMID:21520273, PMID:22703879, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25948282, PMID:26845104, PMID:28492532, PMID:30209399, PMID:30311386 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:21866095, PMID:23344081, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568, PMID:30311386 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:26,729,767...26,749,277
Ensembl chr 8:23,932,846...23,952,377
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:10888875, PMID:15657609, PMID:15712225, PMID:17652762, PMID:20079539, PMID:25558176, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386 NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:9457913, PMID:30311386 NCBI chr10:100,630,959...100,685,715 JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
JBrowse link
G DDX58 DExD/H-box helicase 58 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr11:652,337...709,854 JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16917092, PMID:20129281, PMID:20152563, PMID:21606396, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26230511, PMID:26569459, PMID:26656175, PMID:27153395, PMID:27435932, PMID:28473349, PMID:28492532, PMID:30311386 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:27,706,576...28,116,328
Ensembl chr18:31,524,255...31,705,386
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:3066688, PMID:19636410, PMID:19909265, PMID:23033978, PMID:23647072, PMID:24697219, PMID:25741868, PMID:26682508, PMID:26740508, PMID:27441201, PMID:28378778, PMID:28492532, PMID:28911200, PMID:30311386 Ensembl chr20:61,412,122...61,421,735 JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:127,634,416...127,649,659 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25133958, PMID:28492532, PMID:30311386 NCBI chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:17964524, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G KRT2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chr12:36,111,978...36,119,684
Ensembl chr12:36,889,619...36,896,813
JBrowse link
G LOC100972297 polycystin-1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr16:604,927...1,697,831 JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:14578192, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
JBrowse link
G LOC100991254 filamin-C ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896
JBrowse link
G MDM2 MDM2 proto-oncogene treatment ISO RGD PMID:24005053 RGD:10412066 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:17311297, PMID:18041031, PMID:25074460, PMID:28492532, PMID:29449315, PMID:29618358, PMID:30311386 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433
JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
JBrowse link
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 NCBI chr 6:35,828,778...35,872,129
Ensembl chr 6:37,002,466...37,067,190
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 Ensembl chr16:30,183,352...30,187,862 JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:11804990, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chr15:19,786,621...19,800,297
Ensembl chr15:38,036,638...38,050,303
JBrowse link
G SUPV3L1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr10:65,647,273...65,676,179
Ensembl chr10:68,180,671...68,209,538
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:7773290, PMID:9593710, PMID:16968736, PMID:19241467, PMID:22437313, PMID:24824130, PMID:25741868, PMID:27025581 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:19608031, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr2B:65,783,512...66,064,618 JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1899321, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16826525, PMID:18606302, PMID:24668814, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:94,353,624...94,377,430
Ensembl chr10:97,848,176...97,871,958
JBrowse link
Ichthyosis Exfoliativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis exfoliativa ClinVar PMID:2004005, PMID:7521371, PMID:7524919, PMID:8077693, PMID:10233323 NCBI chr12:36,111,978...36,119,684
Ensembl chr12:36,889,619...36,896,813
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 OMIM NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
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 with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:14,470,268...14,529,854
Ensembl chr  X:21,825,780...21,883,550
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:31790666, PMID:32497488, PMID:32902915 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
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 OMIM NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077
JBrowse link
ichthyosis vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLG filaggrin ISO OMIM NCBI chr 1:127,634,416...127,649,659 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 OMIM NCBI chr 6:77,798,058...77,830,840
Ensembl chr 6:81,068,882...81,102,050
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 OMIM NCBI chr 1:42,664,818...42,686,475
Ensembl chr 1:44,044,693...44,048,769
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:9285800, PMID:9819448, PMID:10049954, PMID:10508996, PMID:10596881, PMID:10903123, PMID:10982182, PMID:11074495, PMID:11386851, PMID:11556849, PMID:11668644, PMID:11935342, PMID:15967879, PMID:16380907, PMID:17666888, PMID:18414213, PMID:19125024, PMID:20739944, PMID:21465647, PMID:22567369, PMID:22695344, PMID:22785241, PMID:24033266, PMID:24158611, PMID:24529908, PMID:25741868, PMID:26096904, PMID:26236732, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
Keratolytic Winter Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSB cathepsin B ISO OMIM NCBI chr 8:7,333,498...7,359,264 JBrowse link
keratosis follicularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO OMIM NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
JBrowse link
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 ISO OMIM NCBI chr18:24,543,061...24,579,085
Ensembl chr18:28,078,131...28,175,803
JBrowse link
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847
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 OMIM NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
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 OMIM NCBI chr2A:70,002,737...70,007,795
Ensembl chr2A:71,120,541...71,121,572
JBrowse link
mal de Meleda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLURP1 secreted LY6/PLAUR domain containing 1 ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS
ClinVar Annotator: match by term: Mal de Meleda
ClinVar PMID:9887370, PMID:11285253, PMID:12483299, PMID:12535203, PMID:12603845, PMID:14674887, PMID:14756676, PMID:17008884, PMID:23290002, PMID:24033266, PMID:24093092, PMID:24604124, PMID:28492532, PMID:29231248 NCBI chr 8:139,452,550...139,454,005
Ensembl chr 8:142,496,754...142,498,207
JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO OMIM NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316
JBrowse link
mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques ClinVar NCBI chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques ClinVar PMID:22405088, PMID:24452206, PMID:25741868, PMID:28492532, PMID:28587736, PMID:30311386 NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100975309 keratin, type I cytoskeletal 14 ISO OMIM NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO OMIM NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO OMIM NCBI chr 5:143,387,981...143,578,839
Ensembl chr 5:149,506,367...149,590,930
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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 OMIM NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
neutral lipid storage disease 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 OMIM NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543, PMID:28492532 NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:16644682, PMID:17187067, PMID:18445597, PMID:19038890, PMID:20370797, PMID:21170305, PMID:21544567, PMID:22832386, PMID:22990388, PMID:23232698, PMID:23449549, PMID:24332944, PMID:24334715, PMID:24836204, PMID:25741868, PMID:25956450, PMID:27869069, PMID:28391974, PMID:28492532, PMID:28499397 NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
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 OMIM NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN1 claudin 1 ISO OMIM NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
JBrowse link
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr 3:187,141,710...187,436,909
Ensembl chr 3:195,964,178...195,990,065
JBrowse link
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO OMIM NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 6:119,213,513...119,227,617 JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KANK2 KN motif and ankyrin repeat domains 2 ISO OMIM NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB7 serpin family B member 7 ISO OMIM NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165
JBrowse link
palmoplantar keratoderma-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 OMIM NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHBDF2 rhomboid 5 homolog 2 ISO OMIM NCBI chr17:70,418,630...70,449,510
Ensembl chr17:75,968,187...75,987,768
JBrowse link
palmoplantar keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:25741868 NCBI chr18:24,543,061...24,579,085
Ensembl chr18:28,078,131...28,175,803
JBrowse link
G GJA1 gap junction protein alpha 1 ISO DNA:mutation:cds:c.23G>A,p.G8V(human) RGD PMID:25168385 RGD:12910125 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratosis
CTD
ClinVar
PMID:2104787, PMID:9139825, PMID:9856479, PMID:10980526, PMID:11354642, PMID:12372058, PMID:12668604, PMID:12700168, PMID:15790391, PMID:15996214, PMID:16059934, PMID:16172043, PMID:16945493, PMID:17462767, PMID:17666888, PMID:18793701, PMID:18924167, PMID:18941476, PMID:20096356, PMID:20890442, PMID:21040787, PMID:21510145, PMID:23451214, PMID:24033266, PMID:24387126, PMID:24945352, PMID:30311386 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:30311386 NCBI chr12:36,270,961...36,277,035
Ensembl chr12:37,048,390...37,054,607
JBrowse link
G KRT9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:1385292, PMID:2531643, PMID:7512862, PMID:7523529, PMID:12838553, PMID:17074468, PMID:19106041, PMID:25741868 NCBI chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
JBrowse link
G SASH1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 6:146,154,178...146,368,101
Ensembl chr 6:150,863,677...151,075,816
JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 ISO OMIM NCBI chr 8:139,452,550...139,454,005
Ensembl chr 8:142,496,754...142,498,207
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:24452206, PMID:28492532, PMID:28587736, PMID:30311386 NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847
JBrowse link
Parakeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100975309 keratin, type I cytoskeletal 14 ISO RGD PMID:15809047 RGD:1600175 NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO OMIM NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
JBrowse link
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 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365
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 OMIM NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991
JBrowse link
Porokeratosis 1, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMVK phosphomevalonate kinase ISO OMIM NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
Porokeratosis 7, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVD mevalonate diphosphate decarboxylase ISO OMIM NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
Porokeratosis 9, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDPS farnesyl diphosphate synthase ISO OMIM NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G LOC100983642 putative uncharacterized protein RUSC1-AS1 ISO ClinVar Annotator: match by term: Porokeratosis 9, multiple types ClinVar PMID:26202976 NCBI chr 1:130,662,834...130,668,707 JBrowse link
Porokeratosis, Disseminated Superficial Actinic 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:26202976 NCBI chr12:107,130,410...107,150,274
Ensembl chr12:110,528,043...110,544,871
JBrowse link
G MVK mevalonate kinase ISO OMIM NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
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 chr12:106,093,738...106,132,710
Ensembl chr12:109,489,932...109,529,091
JBrowse link
Porokeratosis, Disseminated Superficial Actinic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A9 solute carrier family 17 member 9 ISO OMIM NCBI chr20:59,339,779...59,356,396
Ensembl chr20:60,631,969...60,647,278
JBrowse link
punctate palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Punctate palmoplantar hyperkeratosis ClinVar PMID:25741868 NCBI chr 1:129,937,993...129,983,747 JBrowse link
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO OMIM NCBI chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
JBrowse link
punctate palmoplantar keratoderma type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 ClinVar PMID:7894492, PMID:8531967, PMID:8644703, PMID:8833256, PMID:8841191, PMID:9042909, PMID:9150153, PMID:10053113, PMID:10090881, PMID:10447273, PMID:10788334, PMID:11466700, PMID:12142080, PMID:15024741, PMID:15133502, PMID:15353005, PMID:15951956, PMID:15994883, PMID:16541315, PMID:17307836, PMID:18694767, PMID:18762988, PMID:18940477, PMID:19208665, PMID:20301425, PMID:20345474, PMID:20507347, PMID:20569256, PMID:21119707, PMID:21324516, PMID:21503673, PMID:22006311, PMID:22032251, PMID:22185575, PMID:22430266, PMID:23199084, PMID:23232912, PMID:23469205, PMID:23867111, PMID:24033266, PMID:24884479, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26718727, PMID:27433846, PMID:28492532, PMID:29335925, PMID:29478780, PMID:29492181, PMID:30311386, PMID:30606148, PMID:31065452 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
Reticular Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 ISO OMIM NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 ISO ClinVar Annotator: match by term: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:25774499 NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
G LOC100993221 transmembrane protein 99 (putative) ISO ClinVar Annotator: match by term: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:20798280 NCBI chr17:16,447,929...16,465,165 JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO OMIM NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO OMIM NCBI chr 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Keratosis Seborrheica ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 4:1,933,172...1,948,742 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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 OMIM NCBI chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102
JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STIM1 stromal interaction molecule 1 ISO OMIM NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224
JBrowse link
Urban Schosser Spohn Syndrome 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 OMIM NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
Vohwinkel 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 OMIM NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 Ensembl chr  X:7,756,047...7,786,634 JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 Ensembl chr  X:6,909,397...6,964,359 JBrowse link
G STS steroid sulfatase ISO OMIM Ensembl chr  X:7,047,017...7,207,540 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 OMIM NCBI chr  X:14,470,268...14,529,854
Ensembl chr  X:21,825,780...21,883,550
JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 OMIM NCBI chr  X:14,470,268...14,529,854
Ensembl chr  X:21,825,780...21,883,550
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    sensory system disease 4826
      skin disease 2527
        keratosis 179
          Callosities + 0
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Hyperkeratosis Lenticularis Perstans 0
          Johnston Aarons Schelley Syndrome 0
          Keratolytic Winter Erythema 1
          Multiple Eruptive Milia 0
          PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
          Parakeratosis 1
          Sclerotylosis 1
          Trichostasis Spinulosa 0
          Urban Schosser Spohn Syndrome 1
          acquired hyperkeratosis 0
          acrokeratosis verruciformis 1
          actinic keratosis + 4
          cholesteatoma + 21
          erythrokeratodermia variabilis + 6
          hereditary papulotranslucent acrokeratoderma 0
          ichthyosis + 106
          keratosis follicularis + 4
          palmoplantar keratosis + 28
          porokeratosis + 8
          seborrheic keratosis + 3
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        sensory system disease 4826
          skin disease 2527
            keratosis 179
              Callosities + 0
              Curly Hair-Acral Keratoderma-Caries Syndrome 0
              Hyperkeratosis Lenticularis Perstans 0
              Johnston Aarons Schelley Syndrome 0
              Keratolytic Winter Erythema 1
              Multiple Eruptive Milia 0
              PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
              Parakeratosis 1
              Sclerotylosis 1
              Trichostasis Spinulosa 0
              Urban Schosser Spohn Syndrome 1
              acquired hyperkeratosis 0
              acrokeratosis verruciformis 1
              actinic keratosis + 4
              cholesteatoma + 21
              erythrokeratodermia variabilis + 6
              hereditary papulotranslucent acrokeratoderma 0
              ichthyosis + 106
              keratosis follicularis + 4
              palmoplantar keratosis + 28
              porokeratosis + 8
              seborrheic keratosis + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.