Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
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 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:12485442 RGD:7488960 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr 9:21,229,730...21,239,332
Ensembl chr 9:21,229,730...21,239,361
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 chr11:87,793,784...87,804,412
Ensembl chr11:87,793,581...87,804,413
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16930632, PMID:28785074 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
acrokeratosis verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ISO ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf ClinVar
OMIM
PMID:12542527, PMID:20518781 NCBI chr 5:122,453,513...122,502,225
Ensembl chr 5:122,453,513...122,502,225
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 chr19:37,697,738...37,701,536
Ensembl chr19:37,697,798...37,701,536
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 2:118,813,988...118,837,210
Ensembl chr 2:118,814,003...118,853,957
JBrowse link
G Oca2 oculocutaneous albinism II susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 7:56,239,593...56,536,518
Ensembl chr 7:56,239,760...56,536,518
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
atrophoderma vermiculata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Vermiculata atrophoderma ClinVar PMID:26142438 NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
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 IMP
ISO
IEA
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
OMIM:148210
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
MouseDO
OMIM
PMID:1218943, 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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:20926451, PMID:23924173, PMID:22031297, PMID:18950394, PMID:20307501 RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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 chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
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, sub-family A (ABC1), member 12 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 1:71,243,090...71,414,910
Ensembl chr 1:71,242,276...71,414,910
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 chr11:69,157,072...69,169,791
Ensembl chr11:69,156,989...69,169,792
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 chr11:69,125,417...69,149,115
Ensembl chr11:69,125,896...69,149,115
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr17:32,452,697...32,493,320
Ensembl chr17:32,452,723...32,493,320
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P RGD PMID:9195225 RGD:1601069 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr11:46,148,155...46,166,359
Ensembl chr11:46,148,155...46,166,508
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
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 chr17:28,858,286...28,890,308
Ensembl chr17:28,858,411...28,890,309
JBrowse link
G Tgm1 transglutaminase 1, K polypeptide 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 chr14:55,700,009...55,713,921
Ensembl chr14:55,700,009...55,713,926
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, sub-family A (ABC1), member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:16675967, PMID:12915478 RGD:1598548 NCBI chr 1:71,243,090...71,414,910
Ensembl chr 1:71,242,276...71,414,910
JBrowse link
G Abhd5 abhydrolase domain containing 5 susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 9:122,351,616...122,381,524
Ensembl chr 9:122,351,608...122,381,524
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr11:69,157,072...69,169,791
Ensembl chr11:69,156,989...69,169,792
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938, PMID:11773004 RGD:1599073 NCBI chr11:69,125,417...69,149,115
Ensembl chr11:69,125,896...69,149,115
JBrowse link
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chr 7:45,729,981...45,759,672
Ensembl chr 7:45,729,983...45,784,669
JBrowse link
G Tgm1 transglutaminase 1, K polypeptide ISO
IEA
ClinVar Annotator: match by term: Lamellar ichthyosis, type 1
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING
OMIM:242300
ClinVar Annotator: match by OMIM:242300
ClinVar Annotator: match by term: Lamellar ichthyosis, UMLS MESH term: Lamellar Ichthyose
ClinVar
MouseDO
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 chr14:55,700,009...55,713,921
Ensembl chr14:55,700,009...55,713,926
JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr14:55,676,208...55,682,159
Ensembl chr14:55,674,689...55,681,820
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
IEA
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
OMIM:615024
ClinVar Annotator: match by OMIM:615024
OMIM
ClinVar
MouseDO
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 chr17:28,858,286...28,890,308
Ensembl chr17:28,858,411...28,890,309
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 suppression of tumorigenicity 14 (colon carcinoma) 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, PMID:29611532 NCBI chr 9:31,088,590...31,131,811
Ensembl chr 9:31,089,402...31,131,853
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 chr10:78,711,995...78,718,347
Ensembl chr10:78,711,991...78,718,294
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 4short chain dehydrogenase/reductase family 9C, member 7 ISO
IEA
ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
OMIM:617574
ClinVar
MouseDO
OMIM
PMID:25741868, PMID:28173123, PMID:28369735 NCBI chr10:127,898,535...127,911,761
Ensembl chr10:127,898,518...127,911,761
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, cytosolic, 2B, member 1 ISO ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 ClinVar
OMIM
PMID:17496163, PMID:25741868, PMID:28575648 NCBI chr 7:45,729,981...45,759,672
Ensembl chr 7:45,729,983...45,784,669
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 chr11:69,157,072...69,169,791
Ensembl chr11:69,156,989...69,169,792
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 chr11:69,125,417...69,149,115
Ensembl chr11:69,125,896...69,149,115
JBrowse link
G Sult2b1 sulfotransferase family, cytosolic, 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 7:45,729,981...45,759,672
Ensembl chr 7:45,729,983...45,784,669
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 chr11:69,125,417...69,149,115
Ensembl chr11:69,125,896...69,149,115
JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr11:69,218,117...69,237,279
Ensembl chr11:69,218,117...69,237,036
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, sub-family A (ABC1), 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 1:71,243,090...71,414,910
Ensembl chr 1:71,242,276...71,414,910
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, sub-family A (ABC1), member 12 ISO
IEA
ClinVar Annotator: match by term: Ichthyosis congenita, Harlequin fetus type
OMIM:242500
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B
ClinVar Annotator: match by OMIM:242500
OMIM
ClinVar
MouseDO
PMID:15756637, PMID:16902423, PMID:19664001, PMID:25741868 NCBI chr 1:71,243,090...71,414,910
Ensembl chr 1:71,242,276...71,414,910
JBrowse link
G Cst6 cystatin E/M IEA OMIM:242500 MouseDO NCBI chr19:5,344,705...5,349,574
Ensembl chr19:5,344,705...5,349,574
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A IEA OMIM:242500 MouseDO NCBI chr  X:164,419,780...164,433,916
Ensembl chr  X:164,419,787...164,433,916
JBrowse link
G Prss8 protease, serine 8 (prostasin) IEA OMIM:242500 MouseDO NCBI chr 7:127,925,717...127,930,149
Ensembl chr 7:127,925,716...127,930,104
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 chr17:32,452,697...32,493,320
Ensembl chr17:32,452,723...32,493,320
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 chr11:46,148,155...46,166,359
Ensembl chr11:46,148,155...46,166,508
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 chr19:34,067,058...34,085,946
Ensembl chr19:34,067,358...34,084,918
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 7:66,733,118...66,823,692
Ensembl chr 7:66,743,504...66,823,691
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:1218943, 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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:15482471 RGD:7364821 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
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 chr15:99,591,028...99,594,829
Ensembl chr15:99,590,782...99,594,829
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
IEA
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens
OMIM:146800
ClinVar Annotator: match by OMIM:146800
OMIM
ClinVar
MouseDO
PMID:1380918, PMID:2004005, PMID:7521371, PMID:7524919, PMID:8077693, PMID:9204966, PMID:9804344, PMID:10233323, PMID:10620137, PMID:11531804, PMID:28492532 NCBI chr15:101,810,689...101,818,956
Ensembl chr15:101,810,689...101,818,169
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438, PMID:28381441 NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
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 chr10:8,722,217...8,945,608
Ensembl chr10:8,722,219...8,886,070
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO
IEA
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
OMIM:605676
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
MouseDO
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:20738328, 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:30354334, PMID:30382575, PMID:30820396, PMID:30919684, PMID:30975432, PMID:31333075, PMID:31568572 NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap29 synaptosomal-associated protein 29 ISO
IEA
ClinVar Annotator: match by term: CEDNIK syndrome
ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
OMIM:609528
OMIM
ClinVar
MouseDO
PMID:15968592, PMID:19350501, PMID:21073448, PMID:23231787, PMID:25356970, PMID:25473036, PMID:25741868, PMID:25958742, PMID:26467025, PMID:28492532 NCBI chr16:17,406,000...17,430,826
Ensembl chr16:17,405,986...17,430,827
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:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: 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 chr11:62,458,441...62,516,037
Ensembl chr11:62,458,460...62,514,417
JBrowse link
cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ereg epiregulin ISO mRNA:increased expression:external acoustic meatus (human) RGD PMID:24256036 RGD:39457690 NCBI chr 5:91,074,617...91,093,649
Ensembl chr 5:91,074,622...91,093,646
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1384343, PMID:8725537 RGD:7401205, RGD:7401208 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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 (P21) ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:12768791, PMID:7503375 RGD:7794712, RGD:11059515 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr 1:40,222,480...40,316,201
Ensembl chr 1:40,225,080...40,317,257
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
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 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
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 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
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 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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 term: Cole disease
ClinVar Annotator: match by OMIM:615522
OMIM
ClinVar
PMID:19380683, PMID:24075184, PMID:25741868 NCBI chr10:24,637,914...24,712,159
Ensembl chr10:24,637,914...24,712,159
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 (P21) ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
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 Dsg1a desmoglein 1 alpha ISO ClinVar Annotator: match by OMIM:615508 OMIM
ClinVar
PMID:23974871 NCBI chr18:20,310,873...20,343,353
Ensembl chr18:20,310,811...20,343,350
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt10 keratin 10 ISO OMIM NCBI chr11:99,385,254...99,397,449
Ensembl chr11:99,385,254...99,389,364
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, Ca++ transporting, cardiac muscle, slow twitch 2 ISO ClinVar Annotator: match by null ClinVar PMID:10441324 NCBI chr 5:122,453,513...122,502,225
Ensembl chr 5:122,453,513...122,502,225
JBrowse link
Darier Disease, Segmental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ISO ClinVar Annotator: match by term: Darier disease, segmental ClinVar PMID:11121153 NCBI chr 5:122,453,513...122,502,225
Ensembl chr 5:122,453,513...122,502,225
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 chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
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 chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
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 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar PMID:30311386 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
JBrowse link
G Jup junction plakoglobin IEA OMIM:113800 MouseDO NCBI chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
JBrowse link
G Krt1 keratin 1 susceptibility ISO
IEA
DNA:mutation: ; 5191/5192GG>A
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
OMIM:113800
ClinVar Annotator: match by OMIM:113800
ClinVar
MouseDO
OMIM
PMID:1284546, PMID:1380725, PMID:1381288, PMID:7512983, PMID:11531804, PMID:11559215, PMID:12406348, PMID:28492532, PMID:11286616 RGD:1600166 NCBI chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt10 keratin 10 susceptibility ISO
IEA
DNA:mutations:cds: p.R156C (human)
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
OMIM:113800
ClinVar Annotator: match by OMIM:113800
ClinVar
MouseDO
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 chr11:99,385,254...99,397,449
Ensembl chr11:99,385,254...99,389,364
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis ClinVar PMID:25741868, PMID:28492532 NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
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 chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
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 chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO
IEA
DNA:missense mutations:cds:p.G12D, p.L209F (human)
OMIM:133200
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
MouseDO
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 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO DNA:missense mutation: :p.F137L (human)
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutations:exon:multiple
RGD PMID:11017804, PMID:23037955, PMID:12648223 RGD:1598971, RGD:12437072, RGD:1598970 NCBI chr 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
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 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
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 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
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 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
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 chr 1:106,720,410...106,759,742
Ensembl chr 1:106,720,459...106,759,727
JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt87 keratin 87 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 ClinVar
OMIM
PMID:27965375 NCBI chr15:101,431,490...101,438,804
Ensembl chr15:101,431,038...101,438,804
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 7:45,303,155...45,334,071
Ensembl chr 7:45,302,632...45,333,780
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 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:8595410, PMID:16250206, PMID:25741868 NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
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 chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
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 chr11:73,326,560...73,346,592
Ensembl chr11:73,329,741...73,346,044
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 chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
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:1218943, 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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:32090102, PMID:115556849, PMID:163800907 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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 protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome ClinVar
OMIM
PMID:31630788, PMID:31630791 NCBI chr11:4,947,320...5,042,794
Ensembl chr11:4,986,824...5,042,791
JBrowse link
ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 1:71,243,090...71,414,910
Ensembl chr 1:71,242,276...71,414,910
JBrowse link
G Abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), 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 7:45,974,110...46,030,491
Ensembl chr 7:45,967,555...46,030,302
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 chr13:12,269,426...12,340,732
Ensembl chr13:12,269,426...12,340,760
JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:29286531, PMID:30311386 NCBI chr18:56,524,722...56,572,991
Ensembl chr18:56,509,687...56,572,951
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 chr11:69,157,072...69,169,791
Ensembl chr11:69,156,989...69,169,792
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chr11:69,125,417...69,149,115
Ensembl chr11:69,125,896...69,149,115
JBrowse link
G Amer1 APC membrane recruitment 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:95,420,313...95,444,840
Ensembl chr  X:95,420,318...95,444,872
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:122,883,321...123,042,284
Ensembl chr 8:122,883,822...123,042,277
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr 2:153,345,830...153,404,007
Ensembl chr 2:153,345,829...153,404,007
JBrowse link
G Brca1 breast cancer 1, early onset 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 chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
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 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Chrna2 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:30311386 NCBI chr14:66,133,236...66,152,948
Ensembl chr14:66,135,039...66,152,948
JBrowse link
G Cngb3 cyclic nucleotide gated channel 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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:9457913, PMID:30311386 NCBI chr19:47,646,341...47,692,042
Ensembl chr19:47,646,344...47,692,094
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:164,832,872...164,841,032
Ensembl chr 2:164,832,873...164,841,032
JBrowse link
G Ddx58 DEAD/H box helicase 58 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 4:40,203,777...40,239,825
Ensembl chr 4:40,203,773...40,239,828
JBrowse link
G Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 7:141,297,176...141,338,869
Ensembl chr 7:141,297,180...141,327,690
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 chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:23,310,006...23,659,719
Ensembl chr18:23,415,135...23,659,715
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
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 2:181,141,758...181,157,015
Ensembl chr 2:181,147,653...181,157,014
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:93,273,546...93,293,689
Ensembl chr 3:93,273,523...93,293,686
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Flnc filamin C, gamma ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 6:29,433,153...29,461,889
Ensembl chr 6:29,433,256...29,461,883
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr11:119,267,963...119,285,458
Ensembl chr11:119,267,887...119,285,454
JBrowse link
G Gbe1 glucan (1,4-alpha-), branching enzyme 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25133958, PMID:28492532, PMID:30311386 NCBI chr16:70,313,949...70,569,720
Ensembl chr16:70,313,949...70,569,716
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:17964524, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:69,218,117...69,237,279
Ensembl chr11:69,218,117...69,237,036
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il2rb interleukin 2 receptor, beta chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chr15:78,479,256...78,511,621
Ensembl chr15:78,479,256...78,495,271
JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr14:21,499,216...21,672,478
Ensembl chr14:21,481,434...21,672,478
JBrowse link
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:181,075,579...181,135,580
Ensembl chr 2:181,075,579...181,135,300
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G Krt2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chr15:101,810,689...101,818,956
Ensembl chr15:101,810,689...101,818,169
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 treatment ISO RGD PMID:24005053, PMID:24005053 RGD:10412066, RGD:10412066 NCBI chr10:117,688,875...117,710,758
Ensembl chr10:117,688,875...117,710,758
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:85,234,466...85,270,647
Ensembl chr12:85,234,520...85,270,599
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 chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr13:108,654,177...109,955,969
Ensembl chr13:108,449,948...109,953,461
JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr15:76,170,974...76,231,378
Ensembl chr15:76,170,974...76,232,574
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
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 chr17:28,858,286...28,890,308
Ensembl chr17:28,858,411...28,890,309
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:127,017,542...127,021,450
Ensembl chr 7:127,017,531...127,021,211
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr11:60,104,917...60,199,197
Ensembl chr11:60,105,013...60,199,197
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr11:119,389,950...119,487,418
Ensembl chr11:119,393,100...119,487,418
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Scn10a sodium channel, voltage-gated, type X, alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 9:119,608,456...119,719,322
Ensembl chr 9:119,608,456...119,719,322
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:66,270,781...66,440,837
Ensembl chr 2:66,270,778...66,440,840
JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr11:106,317,545...106,365,559
Ensembl chr11:106,318,592...106,353,288
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:11804990, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 IMP RGD PMID:18832587 RGD:10043094 NCBI chr 2:119,237,360...119,249,535
Ensembl chr 2:119,237,362...119,249,527
JBrowse link
G Supv3l1 suppressor of var1, 3-like 1 (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr10:62,429,221...62,451,515
Ensembl chr10:62,429,209...62,449,738
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:86,048,746...86,498,926
Ensembl chr10:86,055,125...86,498,896
JBrowse link
G Tgm1 transglutaminase 1, K polypeptide ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:7773290, PMID:9593710, PMID:16968736, PMID:19241467, PMID:22437313, PMID:24824130, PMID:25741868, PMID:27025581 NCBI chr14:55,700,009...55,713,921
Ensembl chr14:55,700,009...55,713,926
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:86,300,412...86,349,505
Ensembl chr10:86,300,372...86,349,506
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 chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
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 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
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 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 8:114,439,635...115,352,712
Ensembl chr 8:114,439,655...115,352,708
JBrowse link
G Zfyve27 zinc finger, FYVE domain containing 27 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16826525, PMID:18606302, PMID:24668814, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:42,170,567...42,194,593
Ensembl chr19:42,163,951...42,194,590
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 chr15:101,810,689...101,818,956
Ensembl chr15:101,810,689...101,818,169
JBrowse link
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP SYNDROME 2 OMIM
ClinVar
PMID:31790666, PMID:32497488, PMID:32902915 NCBI chr11:60,199,084...60,224,186
Ensembl chr11:60,199,089...60,222,581
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 chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:31790666, PMID:32497488, PMID:32902915 NCBI chr11:60,199,084...60,224,186
Ensembl chr11:60,199,089...60,222,581
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
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 (fatty acid transporter), member 4 ISO ClinVar Annotator: match by term: Ichthyosis prematurity syndrome
ClinVar Annotator: match by OMIM:608649
OMIM
ClinVar
PMID:19631310 NCBI chr 2:29,802,634...29,817,522
Ensembl chr 2:29,802,634...29,817,522
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 3:93,273,546...93,293,689
Ensembl chr 3:93,273,523...93,293,686
JBrowse link
G Lbr lamin B receptor IEA OMIM:146700 MouseDO NCBI chr 1:181,815,315...181,842,401
Ensembl chr 1:181,815,335...181,843,046
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 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 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 9:83,778,692...83,806,305
Ensembl chr 9:83,778,692...83,806,277
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 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 ISO ClinVar Annotator: match by term: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ClinVar
OMIM
PMID:29496980, PMID:30487246 NCBI chr 4:118,426,874...118,432,953
Ensembl chr 4:118,428,093...118,432,953
JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:9285800, PMID:9819448, PMID:10049954, PMID:10508996, PMID:10596881, PMID:10903123, PMID:10982182, PMID:11074495, PMID:11386851, PMID:11556849, PMID:11668644, PMID:11935342, PMID:15967879, PMID:16380907, PMID:17666888, PMID:18414213, PMID:19125024, PMID:20739944, PMID:21465647, PMID:22567369, PMID:22695344, PMID:22785241, PMID:24033266, PMID:24158611, PMID:24529908, PMID:25741868, PMID:26096904, PMID:26236732, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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 chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
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 chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ISO
IEA
ClinVar Annotator: match by term: Keratosis follicularis
OMIM:124200
ClinVar Annotator: match by OMIM:124200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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 chr 5:122,453,513...122,502,225
Ensembl chr 5:122,453,513...122,502,225
JBrowse link
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1a desmoglein 1 alpha ISO ClinVar Annotator: match by term: Keratosis palmoplantaris striata 1
DNA:snp:intron:IVS2-1G>A (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:148700
OMIM
ClinVar
PMID:7544663, PMID:10332028, PMID:11313759, PMID:15897387, PMID:16484817, PMID:19018793, PMID:19157795, PMID:25741868, PMID:10332028 RGD:1598781 NCBI chr18:20,310,873...20,343,353
Ensembl chr18:20,310,811...20,343,350
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 chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
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 7:88,278,024...88,315,861
Ensembl chr 7:88,278,085...88,310,888
JBrowse link
keratosis pilaris atrophicans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO OMIM NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
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 6:86,628,174...86,629,710
Ensembl chr 6:86,628,164...86,629,710
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
IEA
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 chr15:74,726,644...74,728,023
Ensembl chr15:74,724,318...74,728,034
JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor protein complex AP-1, 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 chr 5:137,034,993...137,046,108
Ensembl chr 5:137,034,993...137,046,135
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 chr11:73,326,560...73,346,592
Ensembl chr11:73,329,741...73,346,044
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 chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
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 chr11:100,203,162...100,207,510
Ensembl chr11:100,203,162...100,207,548
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 chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO
IEA
ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME
ClinVar Annotator: match by term: Netherton disease
ClinVar Annotator: match by term: Netherton syndrome
OMIM:256500
ClinVar Annotator: match by OMIM:256500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
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 chr18:43,959,545...44,022,487
Ensembl chr18:43,963,235...44,022,501
JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 9:31,088,590...31,131,811
Ensembl chr 9:31,089,402...31,131,853
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1
ClinVar Annotator: match by OMIM:256520
OMIM
ClinVar
PMID:11034457, PMID:11055895, PMID:19235232, PMID:24836451, PMID:25152457, PMID:25741868, PMID:28492532 NCBI chr 3:98,313,171...98,339,969
Ensembl chr 3:98,313,170...98,339,990
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:15,905,123...15,925,059
Ensembl chr19:15,904,678...15,947,337
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 ISO
IEA
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM:275630
ClinVar Annotator: match by OMIM:275630
OMIM
ClinVar
MouseDO
PMID:6181472, PMID:11590543, PMID:15136565, PMID:20022472, PMID:20520629, PMID:25741868, PMID:27025581, PMID:28492532, PMID:31883530 NCBI chr 9:122,351,616...122,381,524
Ensembl chr 9:122,351,608...122,381,524
JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543, PMID:28492532 NCBI chr 9:122,175,874...122,294,444
Ensembl chr 9:122,175,874...122,294,423
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 7:141,455,188...141,460,743
Ensembl chr 7:141,455,198...141,460,743
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 7:141,455,188...141,460,743
Ensembl chr 7:141,455,198...141,460,743
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 chr16:26,356,645...26,371,839
Ensembl chr16:26,356,642...26,371,841
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 chr16:26,463,135...26,482,765
Ensembl chr16:26,463,135...26,482,765
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt16 keratin 16 IEA OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
JBrowse link
G Rhbdf2 rhomboid 5 homolog 2 IEA OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr11:116,598,148...116,626,960
Ensembl chr11:116,598,165...116,627,019
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 4:124,986,401...125,009,102
Ensembl chr 4:124,986,430...125,009,099
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 4:124,986,401...125,009,102
Ensembl chr 4:124,986,430...125,009,099
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
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 9:21,766,773...21,798,546
Ensembl chr 9:21,766,784...21,798,744
JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb7 serine (or cysteine) peptidase inhibitor, clade 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 chr 1:107,422,689...107,452,689
Ensembl chr 1:107,399,655...107,452,689
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
ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness
DNA:missense mutation:cds:p.G130V(human)
DNA:missense 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:1218943, PMID:1693158, PMID:2104787, 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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:18688874, PMID:24975403, PMID:17993581, PMID:18787097 RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial 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:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial 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:6,870...6,938
Ensembl chr MT:6,870...6,938
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 chr11:116,598,148...116,626,960
Ensembl chr11:116,598,165...116,627,019
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 9:63,602,630...63,644,590
Ensembl chr 9:63,602,660...63,644,588
JBrowse link
G Dsg1a desmoglein 1 alpha ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:25741868 NCBI chr18:20,310,873...20,343,353
Ensembl chr18:20,310,811...20,343,350
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratosis
CTD
ClinVar
PMID:2104787, PMID:9139825, PMID:9856479, PMID:10980526, PMID:11354642, PMID:12372058, PMID:12668604, PMID:12700168, PMID:15790391, PMID:15996214, PMID:16059934, PMID:16172043, PMID:16945493, PMID:17462767, PMID:17666888, PMID:18793701, PMID:18924167, PMID:18941476, PMID:20096356, PMID:20890442, PMID:21040787, PMID:21510145, PMID:23451214, PMID:24033266, PMID:24387126, PMID:24945352, PMID:30311386 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 RGD PMID:10902626 RGD:1600286 NCBI chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
JBrowse link
G Krt6a keratin 6A ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:30311386 NCBI chr15:101,689,928...101,694,305
Ensembl chr15:101,689,910...101,694,307
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 chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr10:8,722,217...8,945,608
Ensembl chr10:8,722,219...8,886,070
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 chr15:74,726,644...74,728,023
Ensembl chr15:74,724,318...74,728,034
JBrowse link
G Slurp2 secreted Ly6/Plaur domain containing 2 IEA MouseDO NCBI chr15:74,742,839...74,746,687
Ensembl chr15:74,742,764...74,746,693
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 chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
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 7:88,278,024...88,315,861
Ensembl chr 7:88,278,085...88,310,888
JBrowse link
Parakeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO RGD PMID:15809047 RGD:1600175 NCBI chr11:100,203,162...100,207,510
Ensembl chr11:100,203,162...100,207,548
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 chr13:74,692,366...74,808,874
Ensembl chr13:74,692,368...74,808,810
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 chr13:74,639,573...74,693,205
Ensembl chr13:74,639,568...74,693,201
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 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 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr17:6,079,828...6,085,488
Ensembl chr17:6,079,786...6,086,517
JBrowse link
G Mplkip M-phase specific PLK1 intereacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr13:17,695,413...17,699,112
Ensembl chr13:17,695,192...17,699,748
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 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
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 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
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 (diphospho) decarboxylase ISO ClinVar Annotator: match by term: Porokeratosis 7, multiple types ClinVar
OMIM
PMID:21161278, PMID:25741868, PMID:26202976 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
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 synthetase ISO ClinVar Annotator: match by term: POROKERATOSIS 9, MULTIPLE TYPES OMIM
ClinVar
PMID:26202976 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
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 methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:26202976 NCBI chr 5:114,431,034...114,444,073
Ensembl chr 5:114,431,034...114,444,060
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:22246419, 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 chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Sart3 squamous cell carcinoma antigen recognized by T cells 3 ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:15840095, PMID:17392836 NCBI chr 5:113,742,444...113,772,400
Ensembl chr 5:113,742,446...113,772,510
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 2:180,724,576...180,742,280
Ensembl chr 2:180,725,263...180,742,280
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 3:89,714,469...89,753,455
Ensembl chr 3:89,715,022...89,753,446
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:25741868, PMID:24390136 RGD:9681734 NCBI chr 9:63,602,630...63,644,590
Ensembl chr 9:63,602,660...63,644,588
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 breast cancer 1, early onset 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 chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt10 keratin 10 ISO ClinVar Annotator: match by OMIM:609165 OMIM
ClinVar
PMID:20798280 NCBI chr11:99,385,254...99,397,449
Ensembl chr11:99,385,254...99,389,364
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site 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 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
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 6:65,042,591...65,116,061
Ensembl chr 6:65,042,583...65,116,061
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 chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Keratosis Seborrheica ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
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, PMID:31775759 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
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 family 3, subfamily 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 chr11:61,223,417...61,267,528
Ensembl chr11:61,223,417...61,267,464
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 7:102,261,514...102,437,319
Ensembl chr 7:102,267,806...102,437,319
JBrowse link
Urban Schosser Spohn Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia ClinVar
OMIM
PMID:31790666, PMID:32497488, PMID:32902915 NCBI chr11:60,199,084...60,224,186
Ensembl chr11:60,199,089...60,222,581
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
IMP
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:1218943, 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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:12837696, PMID:10369869 RGD:11568635, RGD:7364824 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 NCBI chr18:50,567,656...50,568,699
Ensembl chr18:50,563,877...50,601,419
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
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:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
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:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13423
    sensory system disease 5054
      skin disease 2637
        keratosis 187
          Callosities + 0
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Hyperkeratosis Lenticularis Perstans 0
          Johnston Aarons Schelley Syndrome 0
          Keratolytic Winter Erythema 1
          Multiple Eruptive Milia 0
          PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
          Parakeratosis 1
          Sclerotylosis 1
          Trichostasis Spinulosa 0
          Urban Schosser Spohn Syndrome 1
          acquired hyperkeratosis 0
          acrokeratosis verruciformis 1
          actinic keratosis + 4
          cholesteatoma + 21
          erythrokeratodermia variabilis + 7
          hereditary papulotranslucent acrokeratoderma 0
          ichthyosis + 113
          keratosis follicularis + 4
          palmoplantar keratosis + 30
          porokeratosis + 7
          seborrheic keratosis + 3
Path 2
Term Annotations click to browse term
  disease 13423
    disease of anatomical entity 12900
      nervous system disease 10459
        sensory system disease 5054
          skin disease 2637
            keratosis 187
              Callosities + 0
              Curly Hair-Acral Keratoderma-Caries Syndrome 0
              Hyperkeratosis Lenticularis Perstans 0
              Johnston Aarons Schelley Syndrome 0
              Keratolytic Winter Erythema 1
              Multiple Eruptive Milia 0
              PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
              Parakeratosis 1
              Sclerotylosis 1
              Trichostasis Spinulosa 0
              Urban Schosser Spohn Syndrome 1
              acquired hyperkeratosis 0
              acrokeratosis verruciformis 1
              actinic keratosis + 4
              cholesteatoma + 21
              erythrokeratodermia variabilis + 7
              hereditary papulotranslucent acrokeratoderma 0
              ichthyosis + 113
              keratosis follicularis + 4
              palmoplantar keratosis + 30
              porokeratosis + 7
              seborrheic keratosis + 3
paths to the root

NHLBI Logo

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