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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 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Cat catalase susceptibility ISO DNA:SNP:promoter:-262C>T(rs1001179)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:14580687, PMID:14580687 RGD:9479152 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:12485442 RGD:7488960 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:SNP:promoter:-463G>T(rs2333227)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:14580687, PMID:14580687 RGD:9479152 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16930632, PMID:28785074 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf ClinVar
OMIM
PMID:12542527, PMID:20518781 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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, polypeptide 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 3:110,618,256...110,638,024
Ensembl chr 3:110,618,298...110,638,046
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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 p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
ClinVar Annotator: match by OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
OMIM
PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12548749, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12752120, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14700667, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15633193, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15769851, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16885744, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17146396, PMID:17253936, PMID:17330861, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17428836, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18024254, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18843290, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20412116, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21292415, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22031297, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27087580, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27761313, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:20926451, PMID:23924173, PMID:22031297, PMID:18950394, PMID:20307501 RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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: Autosomal recessive congenital ichthyosis
ClinVar PMID:15756637, PMID:17508018, PMID:19262603, PMID:20849526, PMID:25741868, PMID:28492532 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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 chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
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 chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr10:31,241,394...31,258,105
Ensembl chr10:31,241,394...31,258,105
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
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 chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
JBrowse link
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis ClinVar PMID:25741868 NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
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 chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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 PMID:16675967, PMID:12915478 RGD:1598548 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 8:130,973,222...131,001,448
Ensembl chr 8:130,973,201...131,001,458
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938, PMID:11773004 RGD:1599073 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING
ClinVar Annotator: match by OMIM:242300
ClinVar Annotator: match by term: Lamellar ichthyosis, UMLS MESH term: Lamellar Ichthyose
ClinVar
OMIM
PMID:7581379, PMID:7773290, PMID:7824952, PMID:9261103, PMID:9326318, PMID:9359043, PMID:9545389, PMID:9593710, PMID:9887377, PMID:10232404, PMID:10694685, PMID:10886517, PMID:10914678, PMID:11251583, PMID:11298529, PMID:11348475, PMID:11407995, PMID:11511296, PMID:12535215, PMID:12542526, PMID:14996130, PMID:16133457, PMID:16280294, PMID:16908342, PMID:16968736, PMID:16977323, PMID:17635512, PMID:18669893, PMID:18948357, PMID:19156839, PMID:19212342, PMID:19241467, PMID:19262603, PMID:19278426, PMID:19500103, PMID:19863506, PMID:19890349, PMID:20021785, PMID:20137757, PMID:20167857, PMID:20522418, PMID:20663883, PMID:21199492, PMID:21668430, PMID:21895619, PMID:22211879, PMID:22258055, PMID:22311480, PMID:22437313, PMID:22511925, PMID:22622417, PMID:22801880, PMID:22992804, PMID:23096117, PMID:23192619, PMID:23278109, PMID:23621129, PMID:23689228, PMID:23895935, PMID:24033266, PMID:24314425, PMID:24419105, PMID:24824130, PMID:25154629, PMID:25525159, PMID:25741868, PMID:25766764, PMID:25998749, PMID:26076875, PMID:26220141, PMID:26594337, PMID:26620441, PMID:26762237, PMID:26990434, PMID:27025581, PMID:27442430, PMID:28403434, PMID:28492532, PMID:30600594, PMID:30950025, PMID:7824952 RGD:1599417 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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 chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
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 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
ClinVar Annotator: match by OMIM:615024
OMIM
ClinVar
PMID:3757302, PMID:22246504, PMID:23352160, PMID:24033266, PMID:24344921, PMID:25741868, PMID:26424960, PMID:26691440, PMID:27884173, PMID:28369476, PMID:28403545, PMID:28492532 NCBI chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
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: Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 11
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9450882, PMID:12207612, PMID:17273967, PMID:18445049, PMID:18843291 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
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:27494380, PMID:28492532 NCBI chr 7:13,938,376...13,944,286
Ensembl chr 7:13,938,302...13,945,130
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
OMIM
PMID:25741868, PMID:28173123, PMID:28369735 NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
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 ClinVar
OMIM
PMID:17496163, PMID:25741868, PMID:28575648 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
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: Nonbullous congenital ichthyosiform erythroderma 1
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
ClinVar Annotator: match by OMIM:242100
OMIM
ClinVar
PMID:11773004, PMID:16116617, PMID:17139268, PMID:18347291, PMID:18414213, PMID:19131948, PMID:19890349, PMID:20222929, PMID:24033266, PMID:25741868, PMID:26762237, PMID:28492532, PMID:30311386 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
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 chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING
ClinVar PMID:17496163, PMID:28575648 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
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
ClinVar Annotator: match by OMIM:606545
OMIM
ClinVar
PMID:11398099, PMID:11773004, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:24824130, PMID:25741868, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581, PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
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
ClinVar Annotator: match by OMIM:601277
OMIM
ClinVar
PMID:8845852, PMID:10094194, PMID:12915478, PMID:19664001, PMID:25741868 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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: Ichthyosis congenita, Harlequin fetus type
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B
ClinVar Annotator: match by OMIM:242500
OMIM
ClinVar
PMID:15756637, PMID:16902423, PMID:19664001, PMID:25741868 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Cst6 cystatin E/M ISS OMIM:242500 MouseDO NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISS OMIM:242500 MouseDO NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
G Prss8 serine protease 8 ISS OMIM:242500 MouseDO NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5
ClinVar Annotator: match by term: Lamellar ichthyosis, type 3
OMIM
ClinVar
PMID:16436457, PMID:18034255, PMID:22992804, PMID:23621129, PMID:23871423, PMID:24397709, PMID:25741868, PMID:25998749, PMID:26762237, PMID:27025581, PMID:27449533, PMID:27735052, PMID:28492532, PMID:30011118 NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
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
ClinVar Annotator: match by OMIM:612281
OMIM
ClinVar
PMID:15317751, PMID:17557927, PMID:20016120, PMID:20301593, PMID:22622417, PMID:24397709, PMID:25326635, PMID:25458912, PMID:25741868, PMID:26762237, PMID:28492532 NCBI chr10:31,241,394...31,258,105
Ensembl chr10:31,241,394...31,258,105
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 chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
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 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9
ClinVar Annotator: match by OMIM:615023
OMIM
ClinVar
PMID:23549421, PMID:23754960, PMID:25741868 NCBI chr 1:127,706,618...127,781,041
Ensembl chr 1:127,648,234...127,781,017
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 ClinVar Annotator: match by term: Bart-Pumphrey syndrome
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:149200
DNA:mutation:cds:p.N54K(human)
OMIM
ClinVar
PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15952212, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:15482471 RGD:7364821 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 ClinVar Annotator: match by null OMIM
ClinVar
PMID:7531539, PMID:23830519 NCBI chr 7:141,249,044...141,252,576
Ensembl chr 7:141,249,044...141,252,578
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 ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens
ClinVar Annotator: match by OMIM:146800
OMIM
ClinVar
PMID:1380918, PMID:2004005, PMID:7521371, PMID:7524919, PMID:8077693, PMID:9204966, PMID:9804344, PMID:10233323, PMID:10620137, PMID:11531804, PMID:28492532 NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
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 chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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 ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422, PMID:10594734, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16061754, PMID:16175511, PMID:16467215, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21193976, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22795705, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26148547, PMID:26187847, PMID:26220970, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26688388, PMID:26735901, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27194543, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27698334, PMID:27707468, PMID:27831900, PMID:27884173, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29062697, PMID:29247119, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29892087, PMID:29915097, PMID:30165862, PMID:30311386, PMID:30382575, PMID:30820396, PMID:30919684, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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 ClinVar Annotator: match by term: CEDNIK syndrome
ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
OMIM
ClinVar
PMID:15968592, PMID:19350501, PMID:21073448, PMID:23231787, PMID:25356970, PMID:25473036, PMID:25741868, PMID:25958742, PMID:26467025, PMID:28492532 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308050
OMIM
ClinVar
CTD
PMID:10710235, PMID:11907515, PMID:12966526, PMID:18414213, PMID:25526675, PMID:28492532 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1384343, PMID:8725537 RGD:7401205, RGD:7401208 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:12768791, PMID:7503375 RGD:7794712, RGD:11059515 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:ear:
associated with Otitis Media;protein:increased expression:ear:
RGD PMID:8652157, PMID:21311206 RGD:7829727, RGD:7364848 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 ClinVar Annotator: match by OMIM:615522 OMIM
ClinVar
PMID:19380683, PMID:24075184 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 ClinVar Annotator: match by OMIM:615508 OMIM
ClinVar
PMID:23974871 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 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 OMIM:607602 OMIM
ClinVar
PMID:10053007 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt10 keratin 10 ISO OMIM NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
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 null ClinVar PMID:10441324 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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 chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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 chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
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 ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:16628197, PMID:16774985, PMID:20940358, PMID:21606396, PMID:22795705, PMID:22949226, PMID:24033266, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
G Jup junction plakoglobin ISS OMIM:113800 MouseDO NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Krt1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar Annotator: match by OMIM:113800
ClinVar
OMIM
PMID:1284546, PMID:1380725, PMID:1381288, PMID:7512983, PMID:11531804, PMID:11559215, PMID:12406348, PMID:28492532, PMID:11286616 RGD:1600166 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human)
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar Annotator: match by OMIM:113800
ClinVar
OMIM
PMID:1380725, PMID:1381287, PMID:2182100, PMID:7508181, PMID:7512983, PMID:7526210, PMID:16505000, PMID:18219278, PMID:19474805, PMID:20302579, PMID:25741868, PMID:7512983 RGD:1600168 NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
JBrowse link
Epidermolytic Hyperkeratosis, Late-Onset 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 null ClinVar PMID:12648226 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
epidermolytic palmoplantar keratoderma 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 OMIM:144200 OMIM
ClinVar
PMID:11286630 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis ClinVar PMID:25741868, PMID:28492532 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma
ClinVar Annotator: match by OMIM:144200
OMIM
ClinVar
PMID:152116, PMID:1385292, PMID:2531643, PMID:2960371, PMID:7511021, PMID:7512862, PMID:7516304, PMID:7523529, PMID:7532199, PMID:8647270, PMID:9204965, PMID:9856842, PMID:12072061, PMID:12838553, PMID:17074468, PMID:19106041, PMID:19341430, PMID:20964665, PMID:25741868, PMID:27864007, PMID:28492532 NCBI chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
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 null
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 chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutations:cds:p.G12D, p.L209F (human)
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:cds:p.R42P (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:9843209, PMID:16297190, PMID:25556823, PMID:22681493, PMID:21188847, PMID:10798362, PMID:15948974, PMID:9843209, PMID:10594760 RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutation: :p.F137L (human)
RGD PMID:12648223, PMID:23037955, PMID:11017804 RGD:1598970, RGD:12437072, RGD:1598971 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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 ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 OMIM
ClinVar
PMID:9843209, PMID:9843210, PMID:10587579, PMID:10594760, PMID:10798362, PMID:10888284, PMID:11175305, PMID:12019212, PMID:12165562, PMID:12702148, PMID:15131355, PMID:17567887, PMID:19050930, PMID:20981092, PMID:24033266, PMID:24498627, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27884173, PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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 ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 ClinVar
OMIM
PMID:148984, PMID:6437964, PMID:11017804, PMID:12648223 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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 ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 ClinVar
OMIM
PMID:25398053, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 ClinVar
OMIM
PMID:28575652 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 ClinVar
OMIM
PMID:27965375 NCBI chr 7:143,078,996...143,085,833
Ensembl chr 7:143,078,996...143,085,833
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 ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 OMIM
ClinVar
PMID:30528822 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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:CDS:p.L34P (101T>C) (human)
DNA:missense mutation:exon:p.V30I (c.G88A) (human)
RGD PMID:12019212, PMID:21564177 RGD:12050155, RGD:12436733 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kb15 type II keratin Kb15 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:19609311 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:8595410, PMID:16250206, PMID:25741868 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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 chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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 chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar
PMID:21285946, PMID:25285920, PMID:28492532 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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 Kb15 type II keratin Kb15 ISO ClinVar Annotator: match by OMIM:615735 OMIM
ClinVar
PMID:19609311, PMID:23662636 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
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 OMIM:602540
ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
ClinVar Annotator: match by term: HID SYNDROME
OMIM
ClinVar
PMID:1511312, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:9856479, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11073548, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12352684, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12548749, PMID:12560944, PMID:12562518, PMID:12673800, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12851846, PMID:12865758, PMID:12872268, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14643477, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15151513, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15464308, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15504600, PMID:15547422, PMID:15617546, PMID:15617550, PMID:15633193, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15744158, PMID:15769851, PMID:15790391, PMID:15832357, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16645853, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17330861, PMID:17331080, PMID:17357124, PMID:17366579, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17660464, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18353197, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18607988, PMID:18668259, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18843290, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19072567, PMID:19081147, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19230829, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19384972, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19719946, PMID:19723508, PMID:19775242, PMID:19814620, PMID:19877196, PMID:19887791, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20407643, PMID:20497192, PMID:20563649, PMID:20593197, PMID:20607074, PMID:20650534, PMID:20668687, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20863150, PMID:20956747, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21281533, PMID:21287563, PMID:21298213, PMID:21366436, PMID:21392827, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21836520, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22103400, PMID:22106692, PMID:22281373, PMID:22384008, PMID:22389666, PMID:22429511, PMID:22450542, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22567861, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23073770, PMID:23141775, PMID:23266159, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23665763, PMID:23668481, PMID:23680645, PMID:23684175, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24039984, PMID:24078562, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24341454, PMID:24346070, PMID:24529908, PMID:24596593, PMID:24611097, PMID:24612839, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24706568, PMID:24737404, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25162826, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25401782, PMID:25447126, PMID:25493717, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26004784, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26361564, PMID:26381000, PMID:26399936, PMID:26409293, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26749107, PMID:26763877, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:26990548, PMID:27018795, PMID:27057829, PMID:27063752, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27247933, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27534436, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843123, PMID:27843504, PMID:27884173, PMID:27884957, PMID:28000701, PMID:28008688, PMID:28222800, PMID:28271504, PMID:28489599, PMID:28492532, PMID:28583500, PMID:28651654, PMID:28704896, PMID:28900111, PMID:29062245, PMID:29106882, PMID:29148562, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30466042, PMID:30989077, PMID:31160754, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 ClinVar
OMIM
PMID:31630788, PMID:31630791 NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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 chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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 chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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 chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
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 chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
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 chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:64,686,620...64,702,504
Ensembl chr  X:64,686,623...64,702,441
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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 chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Capn3 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 chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
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 chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:30311386 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
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 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:9457913, PMID:30311386 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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 chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
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 chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Krt2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
JBrowse link
G Mdm2 MDM2 proto-oncogene treatment IMP
ISO
RGD PMID:24005053, PMID:24005053 RGD:10412066, RGD:10412066 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:109,059,386...109,095,876
Ensembl chr 6:109,059,341...109,095,557
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 chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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 chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:32,057,530...32,080,170
Ensembl chr20:32,057,454...32,080,088
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
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 chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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 chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
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 chr 3:63,565,160...63,837,815 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 chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 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 chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
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 chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
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 chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
ClinVar Annotator: match by OMIM:308205
OMIM
ClinVar
PMID:10694306, PMID:19361614, PMID:21426410, PMID:22105905, PMID:24313295, PMID:25741868 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
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 OMIM NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
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
ClinVar Annotator: match by OMIM:608649
OMIM
ClinVar
PMID:19631310 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
ichthyosis vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg filaggrin ISO DNA:nonsense mutation, deletion:cds, exon:p.R501X, g.2282delCAGT (human)
ClinVar Annotator: match by term: Ichthyosis vulgaris
ClinVar Annotator: match by OMIM:146700
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16444271, PMID:16550169, PMID:16815158, PMID:17030239, PMID:17291859, PMID:17417636, PMID:18200065, PMID:18325573, PMID:18662816, PMID:19501237, PMID:19663875, PMID:19785597, PMID:19839980, PMID:19874431, PMID:21377035, PMID:21428977, PMID:21514438, PMID:21923666, PMID:22220561, PMID:22403702, PMID:22407025, PMID:22995991, PMID:23947670, PMID:24033266, PMID:24061166, PMID:25741868, PMID:26451970, PMID:28492532, PMID:29428354, PMID:29791750, PMID:32066784, PMID:16444271 RGD:1598947 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Lbr lamin B receptor ISS OMIM:146700 MouseDO NCBI chr13:100,431,390...100,450,209 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 mental retardation
ClinVar Annotator: match by OMIM:614457
OMIM
ClinVar
PMID:22100072, PMID:25326635, PMID:25741868 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
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 ClinVar
OMIM
PMID:29496980, PMID:30487246 NCBI chr 5:137,255,868...137,260,486
Ensembl chr 5:137,255,908...137,260,483
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 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Keratosis follicularis
ClinVar Annotator: match by OMIM:124200
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10080178, PMID:10441323, PMID:10441325, PMID:11168576, PMID:11244492, PMID:12072062, PMID:16733453, PMID:19216760, PMID:20338123, PMID:20423818, PMID:21519848, PMID:24033266, PMID:26467025, PMID:28492532, PMID:10080178 RGD:734619 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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 DNA:snp:intron:IVS2-1G>A (human)
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 1
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:148700
ClinVar
OMIM
PMID:7544663, PMID:10332028, PMID:11313759, PMID:15897387, PMID:16484817, PMID:19018793, PMID:19157795, PMID:25741868, PMID:10332028 RGD:1598781 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
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 ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II
ClinVar Annotator: match by term: Keratosis palmoplantaris striata II
ClinVar Annotator: match by OMIM:612908
OMIM
ClinVar
PMID:9887343, PMID:10594734, PMID:16774985, PMID:19095136, PMID:19279339, PMID:19558499, PMID:20864495, PMID:21606396, PMID:22949226, PMID:24033266, PMID:24503780, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
Keratosis Palmoplantaris Striata 3 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 OMIM:607654 OMIM
ClinVar
PMID:11286616, PMID:11982762 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
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 ClinVar Annotator: match by term: Haim-Munk syndrome
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1886537, PMID:10581027, PMID:10593994, PMID:10662807, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:18809751, PMID:18945301, PMID:23311634, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
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 chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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 chr 4:118,431,755...118,433,286
Ensembl chr 4:118,431,755...118,432,775
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
ISS
ClinVar Annotator: match by term: Mal de Meleda
OMIM:248300
ClinVar
MouseDO
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 7:115,961,655...115,963,071
Ensembl chr 7:115,961,731...115,963,046
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 ClinVar Annotator: match by term: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction:
OMIM
ClinVar
CTD
PMID:19057675, PMID:23423674, PMID:25741868, PMID:30244301, PMID:19057675 RGD:9684947 NCBI chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
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 chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by OMIM:614594
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 chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:161000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8496458, PMID:13141721, PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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 ClinVar Annotator: match by term: Naxos disease
ClinVar Annotator: match by OMIM:601214
OMIM
ClinVar
PMID:10902626, PMID:18672408, PMID:18937352, PMID:19067702, PMID:19863551, PMID:20031617, PMID:20130592, PMID:20525856, PMID:20864495, PMID:21320868, PMID:21606396, PMID:21668431, PMID:21859740, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24503780, PMID:24884844, PMID:25351510, PMID:25445213, PMID:25616645, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26220970, PMID:26230511, PMID:27532257, PMID:27662471, PMID:27930701, PMID:28098346, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28798025, PMID:28831623, PMID:28855170, PMID:29247119, PMID:29334134, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME
ClinVar Annotator: match by term: Netherton disease
ClinVar Annotator: match by term: Netherton syndrome
ClinVar Annotator: match by OMIM:256500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10835624, PMID:11511292, PMID:11544479, PMID:11841556, PMID:12752122, PMID:16601670, PMID:16628198, PMID:17415575, PMID:19683336, PMID:20107740, PMID:20657595, PMID:21564178, PMID:22089833, PMID:22377713, PMID:24015757, PMID:24033266, PMID:25665175, PMID:25710899, PMID:25741868, PMID:25819062, PMID:25917539, PMID:26031502, PMID:26865388, PMID:27988933, PMID:28289593, PMID:28492532, PMID:28832562, PMID:28832989, PMID:28943498, PMID:30293248, PMID:30311386 NCBI chr18:35,118,300...35,190,458
Ensembl chr18:35,121,967...35,191,069
Ensembl chr 1:35,121,967...35,191,069
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
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
ClinVar Annotator: match by OMIM:256520
OMIM
ClinVar
PMID:19235232, PMID:24836451, PMID:25152457, PMID:25741868, PMID:28492532 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
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 ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar Annotator: match by OMIM:275630
OMIM
ClinVar
PMID:6181472, PMID:11590543, PMID:15136565, PMID:20022472, PMID:20520629, PMID:25741868, PMID:27025581, PMID:28492532, PMID:31883530 NCBI chr 8:130,973,222...131,001,448
Ensembl chr 8:130,973,201...131,001,458
JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543, PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
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 chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
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 chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
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 DNA:deletion, nonsense mutation:exon:200_201delTT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12164927, PMID:15521008, PMID:16619213, PMID:15521008 RGD:11341732 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
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 chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
nonepidermolytic palmoplantar keratoderma 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: Palmoplantar keratoderma, nonepidermolytic
ClinVar Annotator: match by OMIM:600962
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7528239, PMID:12406346, PMID:28492532 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt16 keratin 16 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Rhbdf2 rhomboid 5 homolog 2 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:105,573,759...105,600,885
Ensembl chr10:105,573,752...105,600,913
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 null ClinVar PMID:18085567 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
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 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431, PMID:17041600 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar
PMID:24671081 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
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 ClinVar Annotator: match by term: Palmoplantar keratoderma, nagashima type
ClinVar Annotator: match by OMIM:615598
OMIM
ClinVar
PMID:24207119, PMID:24514002, PMID:24773080, PMID:25741868 NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
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 ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness
ClinVar Annotator: match by term: Keratoderma palmoplantar deafness
DNA:missense mutation:cds:p.G130V(human)
DNA:misense mutation:cds:c.224G>A (p.R75Q)(human)
ClinVar Annotator: match by OMIM:148350
DNA:mutation:cds:p.H73R(human)
DNA:missense mutation:cds:p.S183F(human)
OMIM
ClinVar
PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12372058, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15790391, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15996214, PMID:16059934, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096356, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21040787, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23451214, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:18688874, PMID:24975403, PMID:17993581, PMID:18787097 RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819, PMID:6213205, PMID:7987332, PMID:8019558, PMID:8572257, PMID:9450881, PMID:9742104, PMID:11069477, PMID:11175301, PMID:20301595, PMID:31965079 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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 ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
ClinVar Annotator: match by OMIM:148500
OMIM
ClinVar
PMID:8508402, PMID:13209063, PMID:22265016, PMID:22638770, PMID:28492532 NCBI chr10:105,573,759...105,600,885
Ensembl chr10:105,573,752...105,600,913
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 chr 8:68,526,063...68,564,604
Ensembl chr 8:68,526,093...68,563,018
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:25741868 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 RGD PMID:10902626 RGD:1600286 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
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 chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:25168896, PMID:11285253 RGD:1599051 NCBI chr 7:115,961,655...115,963,071
Ensembl chr 7:115,961,731...115,963,046
JBrowse link
G Slurp2 secreted LY6/PLAUR domain containing 2 ISS MouseDO NCBI chr 7:115,977,854...115,981,734
Ensembl chr 7:115,977,852...115,981,731
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 chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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 DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
ClinVar Annotator: match by term: Papillon-Lefevre Disease
ClinVar Annotator: match by OMIM:245000
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10581027, PMID:10593994, PMID:10662807, PMID:10662808, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:16008657, PMID:18809751, PMID:23108224, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039, PMID:10593994 RGD:1599638 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
Parakeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 IEP RGD PMID:15809047 RGD:1600175 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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 ClinVar Annotator: match by OMIM:616295 ClinVar
OMIM
PMID:3527073, PMID:25683118 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
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
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7849702, PMID:7920640, PMID:8571952, PMID:9195225, PMID:9238033, PMID:9758621, PMID:11242112, PMID:11709541, PMID:20944642, PMID:23232694, PMID:24728327, PMID:25620205, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
JBrowse link
porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmvk phosphomevalonate kinase ISS OMIM:175800 MouseDO NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
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 ClinVar Annotator: match by term: Porokeratosis of Mibelli OMIM
ClinVar
PMID:26202976 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
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 ClinVar Annotator: match by term: Porokeratosis 7, multiple types ClinVar
OMIM
PMID:21161278, PMID:25741868, PMID:26202976 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
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 ClinVar Annotator: match by term: POROKERATOSIS 9, MULTIPLE TYPES OMIM
ClinVar
PMID:26202976 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
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 chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES
ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:175900
OMIM
ClinVar
CTD
PMID:1377680, PMID:8386351, PMID:9334262, PMID:10369261, PMID:10369262, PMID:10401001, PMID:10417275, PMID:10896296, PMID:11111075, PMID:11313768, PMID:11313769, PMID:12387810, PMID:12444096, PMID:12563048, PMID:12634869, PMID:15149516, PMID:15188372, PMID:15536479, PMID:15804303, PMID:16255052, PMID:16435210, PMID:16835861, PMID:18414213, PMID:19011501, PMID:19786432, PMID:19877056, PMID:20194276, PMID:21228398, PMID:21399979, PMID:21425920, PMID:21478439, PMID:21548022, PMID:22038276, PMID:22983302, PMID:23006543, PMID:23146290, PMID:23692791, PMID:23979089, PMID:23998246, PMID:24033266, PMID:24084495, PMID:24088041, PMID:24177804, PMID:24233262, PMID:24360083, PMID:24411001, PMID:24470648, PMID:24531851, PMID:24561416, PMID:24781643, PMID:24794831, PMID:25708585, PMID:25741868, PMID:25866490, PMID:26116953, PMID:26202976, PMID:26299986, PMID:26386126, PMID:26633545, PMID:26935981, PMID:26977311, PMID:27012807, PMID:27142780, PMID:27213830, PMID:28095071, PMID:28492532, PMID:28501347, PMID:29047407, PMID:30311386 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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 chr12:48,628,198...48,656,096
Ensembl chr12:48,628,278...48,656,096
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 ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type ClinVar
OMIM
PMID:25180256, PMID:25741868 NCBI chr 3:176,228,433...176,246,971
Ensembl chr 3:176,230,378...176,246,953
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 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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 ClinVar Annotator: match by term: Keratosis palmoplantaris papulosa
DNA:mutations:cds:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:23000146, PMID:23064416, PMID:24390136 RGD:9681734 NCBI chr 8:68,526,063...68,564,604
Ensembl chr 8:68,526,093...68,563,018
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 chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:25774499 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt10 keratin 10 ISO ClinVar Annotator: match by OMIM:609165 OMIM
ClinVar
PMID:20798280 NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
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 ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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 ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar
PMID:4298032, PMID:8731679, PMID:10631162, PMID:24909267, PMID:29409814 NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248
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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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 chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Seborrheic keratosis
ClinVar Annotator: match by term: Keratosis, seborrheic
OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23888070, PMID:24033266, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:27631024, PMID:28492532 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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: Sjögren-Larsson syndrome
ClinVar Annotator: match by OMIM:270200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8528251, PMID:9204959, PMID:9250352, PMID:9254849, PMID:9467812, PMID:9829906, PMID:10384396, PMID:10577908, PMID:10792573, PMID:10854114, PMID:11408337, PMID:15241804, PMID:15931689, PMID:16536828, PMID:16546179, PMID:16837225, PMID:16903323, PMID:17902024, PMID:17971613, PMID:17998529, PMID:18035827, PMID:19124283, PMID:19965611, PMID:20049467, PMID:21531120, PMID:21872273, PMID:21968182, PMID:23450279, PMID:24033266, PMID:25047030, PMID:25641190, PMID:25741868, PMID:27717089, PMID:28025403, PMID:28257279, PMID:28471629, PMID:28492532, PMID:29071827, PMID:29159939, PMID:29183715, PMID:31273323 NCBI chr10:47,525,486...47,546,535
Ensembl chr10:47,525,493...47,546,345
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 ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar
PMID:4085141, PMID:12623447, PMID:12745453, PMID:12944247, PMID:12944248, PMID:22190180, PMID:23332920, PMID:24492416, PMID:24570283, PMID:24591628, PMID:24619930, PMID:25044882, PMID:25326555, PMID:25577287, PMID:25741868, PMID:25918394, PMID:26184105, PMID:26436962, PMID:27066587, PMID:27239559, PMID:28492532, PMID:28624464, PMID:29237733 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
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 ClinVar Annotator: match by term: Keratoderma hereditarium mutilans
ClinVar Annotator: match by term: Mutilating keratoderma
ClinVar Annotator: match by OMIM:124500
DNA:mutation:cds:p.D66H(human)
OMIM
ClinVar
PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9326398, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:12837696, PMID:10369869 RGD:11568635, RGD:7364824 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 NCBI chr  X:45,519,406...45,522,988
Ensembl chr  X:45,519,228...45,522,665
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 NCBI chr18:45,378,357...45,380,797
Ensembl chr18:45,379,707...45,380,730
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308100
OMIM
ClinVar
CTD
PMID:1539590, PMID:2668275, PMID:3007328, PMID:3032454, PMID:7208152, PMID:9252398, PMID:9623797, PMID:10679952, PMID:14641695, PMID:18413370, PMID:25741868 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
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 OMIM:308800 OMIM
ClinVar
PMID:8745901, PMID:20672378, PMID:23316014 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
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 ClinVar Annotator: match by OMIM:300918 OMIM
ClinVar
PMID:17367233, PMID:22931912 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link
Zunich Neuroectodermal 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar Annotator: match by OMIM:280000
OMIM
ClinVar
PMID:3041916, PMID:7666399, PMID:8893234, PMID:18414213, PMID:22444671, PMID:23561846, PMID:24784135, PMID:25250048, PMID:25741868, PMID:28371479, PMID:28492532, PMID:30311386 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      skin disease 2749
        keratosis 185
          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 0
          acquired hyperkeratosis 0
          acrokeratosis verruciformis 1
          actinic keratosis + 4
          cholesteatoma + 20
          erythrokeratodermia variabilis + 7
          hereditary papulotranslucent acrokeratoderma 0
          ichthyosis + 113
          keratosis follicularis + 4
          palmoplantar keratosis + 29
          porokeratosis + 7
          seborrheic keratosis + 3
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            keratosis 185
              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 0
              acquired hyperkeratosis 0
              acrokeratosis verruciformis 1
              actinic keratosis + 4
              cholesteatoma + 20
              erythrokeratodermia variabilis + 7
              hereditary papulotranslucent acrokeratoderma 0
              ichthyosis + 113
              keratosis follicularis + 4
              palmoplantar keratosis + 29
              porokeratosis + 7
              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.