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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ectodermal dysplasia
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Accession:DOID:2121 term browser browse the term
Definition:A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (DO)
Synonyms:exact_synonym: ACC;   anhidrotic ectodermal dysplasia;   anhidrotic ectodermal dysplasias;   anhydrotic ectodermal dysplasia;   anhydrotic ectodermal dysplasias;   aplasia cutis congenita;   congenital ectodermal defect;   congenital ectodermal defects;   congenital ectodermal dysplasia;   ectodermal dysplasias;   hidrotic ectodermal dysplasia;   hidrotic ectodermal dysplasias;   hydrotic ectodermal dysplasia;   hydrotic ectodermal dysplasias
 narrow_synonym: hypohidrotic ectodermal dysplasia, dominant;   hypohidrotic ectodermal dysplasia, recessive
 primary_id: MESH:D004476
 alt_id: OMIA:000323
 xref: GARD:6317;   ICD9CM:757.31;   NCI:C84683;   OMIM:PS305100;   ORDO:79373
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
ectodermal dysplasia 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: Aplasia cutis congenita ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G BMS1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Aplasia cutis congenita ClinVar PMID:23785305 PMID:25741868 NCBI chr10:39,757,627...39,806,401
Ensembl chr10:42,944,081...42,990,235 		JBrowse link
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:27480936 PMID:28492532 NCBI chr13:1,729,724...1,852,031
Ensembl chr13:20,043,630...20,165,344 		JBrowse link
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:9736768 PMID:11279189 PMID:11416205 PMID:15663448 PMID:18231121 More... NCBI chr  X:58,881,660...59,308,451 JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant ClinVar PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:2,049,642...2,100,864
Ensembl chr13:20,367,809...20,413,836 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:1,464,542...1,488,240
Ensembl chr13:19,784,372...19,785,679 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive		 ClinVar PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401 		JBrowse link
G KRT16 keratin 16 susceptibility ISO protein:mutation: ; L130P; pachyonychia congenita, OMIM:167200 RGD PMID:7539673 RGD:1600184 NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437 		JBrowse link
G LOC100976433 keratin, type I cytoskeletal 17 susceptibility ISO protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 RGD PMID:7539673 RGD:1600184 NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079 		JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant ClinVar PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 More... NCBI chr2A:94,961,024...95,029,437 JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G PKP1 plakophilin 1 ISO RGD PMID:9326952 RGD:1599084 NCBI chr 1:176,881,154...176,930,814
Ensembl chr 1:181,182,829...181,232,347 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G TP63 tumor protein p63 ISO DNA:missense mutation:exon:p.K193E (577A>G) (human) RGD PMID:22574117 RGD:11568633 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:2,105,931...2,230,115
Ensembl chr13:20,418,609...20,542,370 		JBrowse link
ACCES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME ClinVar
OMIM		 PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 More... NCBI chr19:31,382,856...31,424,252
Ensembl chr19:40,110,049...40,149,742 		JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:28492532 NCBI chr 3:116,412,238...116,536,900
Ensembl chr 3:123,324,166...123,450,236 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:26299364 PMID:29924900 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:21820096 PMID:24033266 PMID:25558065 PMID:25741868 PMID:25824905 More... NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:23522784 PMID:25558065 PMID:25741868 NCBI chr 3:68,910,100...68,950,816
Ensembl chr 3:70,277,450...70,317,465 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:20,719,548...20,835,439
Ensembl chr 4:25,995,263...26,107,683 		JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar		 PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 More... NCBI chr 3:116,412,238...116,536,900
Ensembl chr 3:123,324,166...123,450,236 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:21820096 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 More... NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220 		JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar Annotator: match by term: DOCK6-related condition OMIM
ClinVar		 PMID:8849019 PMID:9536098 PMID:16199547 PMID:17159513 PMID:17576681 More... NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 ClinVar PMID:18593716 PMID:20951801 PMID:20981092 PMID:25741868 PMID:28492532 More... NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3 OMIM
ClinVar		 PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 NCBI chr 4:20,719,548...20,835,439
Ensembl chr 4:25,995,263...26,107,683 		JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 More... NCBI chr 3:68,910,100...68,950,816
Ensembl chr 3:70,277,450...70,317,465 		JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,898,222...107,908,125 JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		JBrowse link
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,989,621...109,256,841 JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279 		JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,170,361...108,189,498 JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992 		JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111 		JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,631,543...108,632,733 JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716 		JBrowse link
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 OMIM
ClinVar		 PMID:1621771 PMID:3495735 PMID:4750422 PMID:9536098 PMID:12774039 More... NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,358,959...108,361,586 JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:106,620,368...106,629,655 JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550 		JBrowse link
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683 		JBrowse link
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		JBrowse link
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,251,235...108,261,541 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871 		JBrowse link
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition OMIM
ClinVar		 PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 More... NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM
ClinVar		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOF otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 Ensembl chr 7:162,140,534...162,218,224 JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 Ensembl chr 4:5,635,151...5,782,657 JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		JBrowse link
G IFT140 intraflagellar transport 140 ISO OMIM:208500 MouseDO NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905 		JBrowse link
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100 		JBrowse link
G RAB34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr17:28,057,077...28,061,234
Ensembl chr17:28,562,118...28,566,242 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Infantile thoracic dystrophy ClinVar PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,969,185...100,990,296
Ensembl chr11:104,452,913...104,474,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:25741868 PMID:27884168 PMID:28492532 NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,390,687...102,456,357
Ensembl chr11:105,872,588...105,937,472 		JBrowse link
G AMOTL1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,743,625...89,890,334
Ensembl chr11:93,278,464...93,413,197 		JBrowse link
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,841,228...96,866,390
Ensembl chr11:100,340,375...100,356,947 		JBrowse link
G ANKRD49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,500,796...89,506,436
Ensembl chr11:92,986,224...92,991,713 		JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,457,931...105,593,644
Ensembl chr11:109,289,419...109,437,294 		JBrowse link
G ARHGAP42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,655,874...95,962,003
Ensembl chr11:99,159,634...99,460,060 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome		 ClinVar
OMIM		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468 		JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:23,994,256...24,014,244
Ensembl chr22:42,207,149...42,213,022 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G C9H11orf87 chromosome 9 C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,308,303...104,315,320
Ensembl chr11:107,776,999...107,777,592 		JBrowse link
G CARD16 caspase recruitment domain family member 16 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,981,854...99,985,839
Ensembl chr11:103,467,368...103,468,288 		JBrowse link
G CASP1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149 		JBrowse link
G CASP4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,883,353...99,909,185
Ensembl chr11:103,366,138...103,391,824 		JBrowse link
G CASP5 caspase 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,931,066...99,963,652 JBrowse link
G CCDC82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:91,359,827...91,397,027
Ensembl chr11:94,884,856...94,921,339 		JBrowse link
G CEP126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,864,691...96,950,338
Ensembl chr11:100,363,259...100,447,121 		JBrowse link
G CEP57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,795,277...90,838,166 JBrowse link
G CFAP300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,997,736...97,034,422
Ensembl chr11:100,495,360...100,530,638 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,012,914...95,340,930
Ensembl chr11:98,062,341...98,848,900 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272 		JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,895,611...102,994,447
Ensembl chr11:106,371,759...106,469,989 		JBrowse link
G CWC15 CWC15 spliceosome associated protein homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,977,104...89,987,495
Ensembl chr11:93,499,406...93,509,827 		JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,219,339...102,345,865
Ensembl chr11:105,702,934...105,828,149 		JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,996,643...98,038,108
Ensembl chr11:101,493,113...101,522,920 		JBrowse link
G DDI1 DNA damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:98,981,511...98,983,500
Ensembl chr11:102,466,220...102,467,398 		JBrowse link
G DDX10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,549,629...103,826,262
Ensembl chr11:107,018,798...107,293,248 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194 		JBrowse link
G ELMOD1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,481,649...102,557,478
Ensembl chr11:105,989,544...106,034,696 		JBrowse link
G ENDOD1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,103,089...90,146,740
Ensembl chr11:93,626,201...93,669,384 		JBrowse link
G EXPH5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,390,256...103,478,587
Ensembl chr11:106,863,716...106,947,586 		JBrowse link
G FAM76B family with sequence similarity 76 member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,774,244...90,795,042
Ensembl chr11:94,301,937...94,322,788 		JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,311,613...105,345,414 JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074 		JBrowse link
G FUT4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,550,637...89,566,111
Ensembl chr11:93,036,119...93,037,711 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,498,632...100,873,764
Ensembl chr11:103,983,862...104,355,280 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:101,565,279...101,910,136 JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G JRKL JRK like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:91,397,097...91,401,426
Ensembl chr11:94,922,218...94,923,792 		JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,938,438...100,969,353
Ensembl chr11:104,426,554...104,453,162 		JBrowse link
G KDM4D lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,987,537...90,013,421 JBrowse link
G KDM4E lysine demethylase 4E ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,039,540...90,041,341
Ensembl chr11:93,561,957...93,563,477 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935 		JBrowse link
G LOC100983381 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034 		JBrowse link
G LOC100985633 caspase-1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,031,979...100,041,771
Ensembl chr11:103,522,260...103,524,354 		JBrowse link
G MAML2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,982,013...91,350,289
Ensembl chr11:94,511,873...94,873,977 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G MMP10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679 		JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322 		JBrowse link
G MMP27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,630,268...97,644,959
Ensembl chr11:101,123,253...101,137,315 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
G MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,899,541...100,913,926
Ensembl chr11:104,383,412...104,397,702 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338 		JBrowse link
G PDGFD platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273 		JBrowse link
G PGR progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506 		JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,572,252...89,628,251
Ensembl chr11:93,097,709...93,150,981 		JBrowse link
G POGLUT3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,356,813...103,383,515
Ensembl chr11:106,827,056...106,853,166 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996 		JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,125,675...106,165,907
Ensembl chr11:109,971,255...110,011,080 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908 		JBrowse link
G RAB39A RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,814,825...102,851,700
Ensembl chr11:106,291,348...106,326,587 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557 		JBrowse link
G SESN3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,184,571...90,249,825
Ensembl chr11:93,714,916...93,773,679 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543 		JBrowse link
G SLC35F2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,681,791...102,750,821
Ensembl chr11:106,159,625...106,227,656 		JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,598,123...102,602,917 JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980 		JBrowse link
G TMEM123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,342,669...97,399,342
Ensembl chr11:100,835,988...100,892,618 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,975,798...105,054,382
Ensembl chr11:108,859,581...108,899,858 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr17:42,686,483...42,773,668
Ensembl chr17:47,475,201...47,507,282 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
BASAN syndrome 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: Basan syndrome OMIM
ClinVar		 PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 PMID:26932190 NCBI chr 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366 		JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:3265306 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:8234268 PMID:16474404 PMID:16474405 PMID:16773572 PMID:16987887 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:16439621 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: CFC syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome ClinVar PMID:28492532 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420 		JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 OMIM
ClinVar		 PMID:2102266 PMID:2851224 PMID:3265306 PMID:4386970 PMID:5771505 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 OMIM
ClinVar		 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar		 PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926 		JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: CEDNIK syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:2,931,523...3,082,475 JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome | ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome OMIM
ClinVar		 PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 More... NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... NCBI chr17:35,122,347...35,252,800
Ensembl chr2A:110,417,770...110,546,387 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:25,843,447...25,869,874 JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 ClinVar PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
Clouston syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:27480936 PMID:28492532 NCBI chr13:1,729,724...1,852,031
Ensembl chr13:20,043,630...20,165,344 		JBrowse link
G EDA ectodysplasin A ISO Anhidrotic ectodermal dysplasia, EDA-related OMIA PMID:579352 PMID:3710892 PMID:4055508 PMID:5462764 PMID:6746381 More... NCBI chr  X:58,881,660...59,308,451 JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:2,049,642...2,100,864
Ensembl chr13:20,367,809...20,413,836 		JBrowse link
G FOXI3 forkhead box I3 ISO Ectodermal dysplasia OMIA PMID:3998444 PMID:8437436 PMID:15771734 PMID:15958791 PMID:18787161 More... NCBI chr2A:87,578,732...87,585,111 JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:1,464,542...1,488,240
Ensembl chr13:19,784,372...19,785,679 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11874494 More... NCBI chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr13:2,105,931...2,230,115
Ensembl chr13:20,418,609...20,542,370 		JBrowse link
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia OMIM
ClinVar		 PMID:25741868 PMID:27479907 PMID:28492532 PMID:32817298 NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030 		JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506 		JBrowse link
G MATN3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:19,979,188...20,000,733
Ensembl chr2A:20,095,710...20,116,015 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810 		JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928 		JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATN3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:19,979,188...20,000,733
Ensembl chr2A:20,095,710...20,116,015 		JBrowse link
G SPAG17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 1:84,339,906...84,571,723 JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... NCBI chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810 		JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506 		JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis OMIM
ClinVar		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:58,881,660...59,308,451 JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:55,786,361...55,830,798
Ensembl chr  X:65,850,306...65,894,975 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr2A:94,739,338...94,928,835 JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr2A:94,961,024...95,029,437 JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046 		JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr2A:94,961,024...95,029,437 JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046 		JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr2A:94,961,024...95,029,437 JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDF1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 1:26,210,572...26,221,991
Ensembl chr 1:27,267,106...27,277,684 		JBrowse link
ectodermal dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C23H22orf31 chromosome 23 C22orf31 homolog ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type ClinVar PMID:25741868 PMID:28492532 NCBI chr22:10,114,034...10,129,561
Ensembl chr22:27,813,912...27,817,168 		JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type OMIM
ClinVar		 PMID:25741868 PMID:27049303 PMID:28492532 NCBI chr22:10,128,326...10,202,548
Ensembl chr22:27,828,011...28,031,917 		JBrowse link
ectodermal dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22678063 PMID:24033266 PMID:25741868 More... NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762 		JBrowse link
ectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXC13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr12:34,808,575...34,816,324
Ensembl chr12:35,596,821...35,604,560 		JBrowse link
G KRT74 keratin 74 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type ClinVar PMID:20409997 PMID:24714551 PMID:25741868 PMID:28492532 NCBI chr12:36,190,338...36,198,338
Ensembl chr12:36,967,950...36,975,931 		JBrowse link
ectodermal dysplasia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT74 keratin 74 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 7, hair/nail type OMIM
ClinVar		 PMID:20409997 PMID:24714551 PMID:25741868 PMID:28492532 NCBI chr12:36,190,338...36,198,338
Ensembl chr12:36,967,950...36,975,931 		JBrowse link
ectodermal dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXC13 homeobox C13 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type OMIM
ClinVar		 PMID:23063621 PMID:23315978 PMID:25741868 NCBI chr12:34,808,575...34,816,324
Ensembl chr12:35,596,821...35,604,560 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473 		JBrowse link
G LOC100987236 signal recognition particle subunit SRP54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr14:16,155,331...16,158,588 JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347 		JBrowse link
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31570889 PMID:31821646 NCBI chr 3:49,282,009...49,339,887 JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome OMIM
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287 		JBrowse link
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Mcgrath syndrome ClinVar PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		JBrowse link
G PKP1 plakophilin 1 ISO ClinVar Annotator: match by term: Mcgrath syndrome OMIM
ClinVar		 PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 More... NCBI chr 1:176,881,154...176,930,814
Ensembl chr 1:181,182,829...181,232,347 		JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 OMIM
ClinVar		 PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr 1:136,484,235...136,502,478
Ensembl chr 1:140,397,817...140,414,897 		JBrowse link
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome OMIM
ClinVar		 PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532 NCBI chr 8:98,129,147...98,308,120
Ensembl chr 8:100,308,575...100,471,830 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012 		JBrowse link
G ADRA2C adrenoceptor alpha 2C ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,904,346...3,906,577 JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:21131972 PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr 3:177,640,127...177,705,885
Ensembl chr 3:185,813,245...185,878,362 		JBrowse link
G CYTL1 cytokine like 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:5,092,144...5,098,092 JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome OMIM
ClinVar		 PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 More... Ensembl chr 4:5,789,316...5,894,265 JBrowse link
G EVC2 EvC ciliary complex subunit 2 susceptibility ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome
DNA:mutations		 OMIM
ClinVar
RGD		 PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 More... RGD:1600212 Ensembl chr 4:5,635,151...5,782,657 JBrowse link
G FAM193A family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,678,935...2,875,203
Ensembl chr 4:2,641,979...2,777,761 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094 		JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,370,947...2,385,108
Ensembl chr 4:2,282,482...2,292,739 		JBrowse link
G HGFAC HGF activator ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436 		JBrowse link
G HTT huntingtin ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730 		JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,663,649...3,683,450
Ensembl chr 4:3,646,179...3,666,098 		JBrowse link
G LYAR Ly1 antibody reactive ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,348,263...4,364,347 JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,073,071...3,077,765
Ensembl chr 4:2,975,493...2,979,791 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,393,646...3,408,820
Ensembl chr 4:3,290,354...3,305,139 		JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,935,600...4,939,079 JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,390,409...2,405,141 JBrowse link
G NOP14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,080,444...3,105,999
Ensembl chr 4:2,982,906...3,007,548 		JBrowse link
G NSG1 neuronal vesicle trafficking associated 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,467,234...4,496,088 JBrowse link
G OTOP1 otopetrin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,269,521...4,307,585 JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,214,154...2,385,094
Ensembl chr 4:2,122,309...2,292,431 		JBrowse link
G RGS12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:3,439,030...3,589,026
Ensembl chr 4:3,444,570...3,573,712 		JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,614,918...2,661,785
Ensembl chr 4:2,540,612...2,563,937 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263 		JBrowse link
G STK32B serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More...
G STX18 syntaxin 18 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,493,543...4,619,062 JBrowse link
G TMEM128 transmembrane protein 128 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,316,181...4,328,850 JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,884,265...2,899,160 JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 NCBI chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810 		JBrowse link
G ZBTB49 zinc finger and BTB domain containing 49 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr 4:4,370,748...4,401,649 JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 4:2,412,659...2,564,741
Ensembl chr 4:2,320,446...2,470,638 		JBrowse link
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis OMIM
ClinVar		 PMID:10766980 PMID:11173846 PMID:14513299 PMID:15793702 PMID:23819449 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition OMIM
ClinVar		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:40,807,151...40,819,069
Ensembl chr  X:48,671,829...48,682,980 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:1347096 PMID:8302318 PMID:8658145 PMID:11457640 PMID:11941477 More... NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:28492532 NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:19533801 PMID:21188540 PMID:25741868 PMID:26467025 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:89,804,830...89,813,687
Ensembl chr10:93,317,798...93,325,315 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:126,080,684...126,143,677 JBrowse link
Focal Facial Dermal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type OMIM
ClinVar		 PMID:8818454 PMID:14069095 PMID:20691403 PMID:21931173 NCBI chr2B:126,080,684...126,143,677 JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 OMIM
ClinVar		 PMID:16530710 PMID:23161670 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr10:89,804,830...89,813,687
Ensembl chr10:93,317,798...93,325,315 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:58,881,660...59,308,451 JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046 		JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr2A:94,961,024...95,029,437 JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness OMIM
ClinVar		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725 		JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 More... NCBI chr17:69,708,641...69,715,942
Ensembl chr17:75,259,522...75,269,048 		JBrowse link
G ITGA6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr2B:59,714,348...59,794,762
Ensembl chr2B:177,169,536...177,250,143 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:6177243 PMID:7545057 PMID:9536098 PMID:9546354 PMID:9674902 More... NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		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 OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847 		JBrowse link
G GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:83,514,978...84,077,650
Ensembl chr11:87,107,788...87,868,953 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
linear nevus sebaceous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis OMIM
ClinVar		 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous OMIM
ClinVar		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous OMIM
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:67,082,551...67,088,492
Ensembl chr  X:77,194,757...77,200,532 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome ClinVar
OMIM		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259 		JBrowse link
G PCDH12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,305,110...137,324,879
Ensembl chr 5:143,414,064...143,429,540 		JBrowse link
G RNF14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,316,493...137,351,061
Ensembl chr 5:143,441,497...143,461,355 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 1:106,189,351...106,219,302
Ensembl chr 1:105,323,791...105,349,892 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: NFJ syndrome | ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome OMIM
ClinVar		 PMID:8496458 PMID:13141721 PMID:25741868 PMID:28492532 NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome OMIM
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
Neurocutaneous Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO DNA:missense mutation;exon:2350C>T(p.H784Y)(human) RGD PMID:18478038 RGD:13439711 NCBI chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:missense mutation:cds:W210C (human) RGD PMID:15574463 RGD:2317722 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 3:49,282,009...49,339,887 JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 ClinVar PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD15 abhydrolase domain containing 15 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,207,536...27,214,110
Ensembl chr17:27,723,540...27,729,540 		JBrowse link
G ADAP2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,881,050...25,920,260
Ensembl chr17:25,371,444...25,408,751 		JBrowse link
G ANKRD13B ankyrin repeat domain 13B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,159,796...27,181,528
Ensembl chr17:27,676,809...27,684,253 		JBrowse link
G ATAD5 ATPase family AAA domain containing 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,944,259...26,009,317
Ensembl chr17:25,436,195...25,496,242 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G BLMH bleomycin hydrolase ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,476,039...26,519,782
Ensembl chr17:26,993,361...27,038,131 		JBrowse link
G CORO6 coronin 6 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,151,620...27,159,795
Ensembl chr17:27,668,659...27,676,808 		JBrowse link
G CPD carboxypeptidase D ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,302,112...26,389,049
Ensembl chr17:26,821,641...26,908,257 		JBrowse link
G CRLF3 cytokine receptor like factor 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,015,224...26,057,668
Ensembl chr17:25,523,472...25,545,460 		JBrowse link
G CRYBA1 crystallin beta A1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,522,647...27,530,767
Ensembl chr17:28,032,809...28,040,525 		JBrowse link
G EFCAB5 EF-hand calcium binding domain 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,661,188...26,846,483
Ensembl chr17:27,179,510...27,352,621 		JBrowse link
G EVI2A ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr17:25,476,668...25,482,394
Ensembl chr17:26,215,638...26,216,348 		JBrowse link
G EVI2B ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr17:25,484,228...25,495,150
Ensembl chr17:26,229,023...26,230,368 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 NCBI chr 6:29,405,026...29,437,108
Ensembl chr 6:30,065,119...30,095,304 		JBrowse link
G GIT1 GIT ArfGAP 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,185,025...27,201,146
Ensembl chr17:27,706,776...27,717,857 		JBrowse link
G GOSR1 golgi SNAP receptor complex member 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,248,771...26,293,872
Ensembl chr17:26,769,855...26,813,775 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease		 OMIM
ClinVar		 PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,581,886...26,653,137
Ensembl chr17:27,100,683...27,171,043 		JBrowse link
G NUFIP2 nuclear FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,482,374...27,521,466
Ensembl chr17:27,994,745...28,022,755 		JBrowse link
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,843,447...25,869,874 JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
G SSH2 slingshot protein phosphatase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,845,369...27,148,615
Ensembl chr17:27,363,861...27,665,630 		JBrowse link
G TAOK1 TAO kinase 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,222,725...27,385,713
Ensembl chr17:27,746,797...27,840,623 		JBrowse link
G TEFM transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,933,934...25,941,220
Ensembl chr17:25,423,956...25,432,198 		JBrowse link
G TMIGD1 transmembrane and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,434,052...26,451,937
Ensembl chr17:26,952,956...26,970,501 		JBrowse link
G TP53I13 tumor protein p53 inducible protein 13 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,201,464...27,207,347
Ensembl chr17:27,718,175...27,722,447 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome OMIM
ClinVar		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
nonsyndromic aplasia cutis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMS1 BMS1 ribosome biogenesis factor ISO OMIM NCBI chr10:39,757,627...39,806,401
Ensembl chr10:42,944,081...42,990,235 		JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr19:53,021,034...53,083,590
Ensembl chr19:61,818,345...61,879,538 		JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Odontoonychodermal dysplasia OMIM
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
Ohdo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216 		JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked OMIM
ClinVar		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
pachyonychia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT16 keratin 16 ISO CTD Direct Evidence: marker/mechanism
OMIM:167200 | OMIM:167210		 CTD
MouseDO		 NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437 		JBrowse link
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: PC-K6a ClinVar PMID:25741868 PMID:28492532 NCBI chr12:36,270,961...36,277,035
Ensembl chr12:37,048,390...37,054,607 		JBrowse link
G LOC100976433 keratin, type I cytoskeletal 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079 		JBrowse link
G LOC103783749 keratin, type II cytoskeletal 6B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:36,312,149...36,317,586
Ensembl chr12:37,089,376...37,094,087 		JBrowse link
Pachyonychia Congenita 1 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: Pachyonychia congenita 1 OMIM
ClinVar		 PMID:8595410 PMID:10606845 PMID:10839714 PMID:11359398 PMID:11886499 More... NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437 		JBrowse link
Pachyonychia Congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100976433 keratin, type I cytoskeletal 17 ISO ClinVar Annotator: match by term: Pachyonychia congenita 2 OMIM
ClinVar		 PMID:2248894 PMID:3954955 PMID:7529318 PMID:7539673 PMID:9008238 More... NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079 		JBrowse link
G LOC103783749 keratin, type II cytoskeletal 6B ISO ClinVar Annotator: match by term: Pachyonychia congenita 2 ClinVar PMID:25741868 NCBI chr12:36,312,149...36,317,586
Ensembl chr12:37,089,376...37,094,087 		JBrowse link
Pachyonychia Congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar		 PMID:11886499 PMID:16250206 PMID:17309457 PMID:21326300 PMID:22668561 More... NCBI chr12:36,270,961...36,277,035
Ensembl chr12:37,048,390...37,054,607 		JBrowse link
Pachyonychia Congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103783749 keratin, type II cytoskeletal 6B ISO ClinVar Annotator: match by term: Pachyonychia congenita 4 OMIM
ClinVar		 PMID:9618173 PMID:16250206 PMID:24354895 PMID:24611874 PMID:25741868 More... NCBI chr12:36,312,149...36,317,586
Ensembl chr12:37,089,376...37,094,087 		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 ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar		 PMID:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 More... NCBI chr 6:119,213,513...119,227,617 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 ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM
ClinVar		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCTD1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Scalp-ear-nipple syndrome OMIM
ClinVar		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chr18:19,711,846...19,914,897 JBrowse link
Schinzel Giedion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion syndrome OMIM
ClinVar		 PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Schwannomatosis ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis ClinVar PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic ClinVar
OMIM		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Schwannomatosis 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
Sebocystomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100976433 keratin, type I cytoskeletal 17 ISO ClinVar Annotator: match by term: Sebocystomatosis ClinVar PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:22336949 More... NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079 		JBrowse link
spinal neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, familial spinal OMIM
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
steatocystoma multiplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100976433 keratin, type I cytoskeletal 17 ISO ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex OMIM
ClinVar		 PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:11809119 More... NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079 		JBrowse link
Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G FN1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003 		JBrowse link
G LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha ISO ClinVar Annotator: match by term: Sturge-Weber syndrome OMIM
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936 		JBrowse link
G FLNA filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr16:604,366...605,560 JBrowse link
G TSC1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome		 RGD
ClinVar		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992 		JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,620,368...106,629,655 JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		JBrowse link
G TSC1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 OMIM
ClinVar
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889 		JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTKMT adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:733,726...735,794 JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,390,160...1,403,978 JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995 		JBrowse link
G C1QTNF8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,095,896...1,097,260 JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,035,826...1,055,005 JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:735,974...739,572 JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:803,340...813,170 JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:742,818...754,087 JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951 		JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:233,377...299,494
Ensembl chr16:1,666,559...1,726,437 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557 		JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:708,401...711,626 JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592 		JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:813,363...813,721 JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,407,385...1,418,523 JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:740,574...742,521 JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:789,542...796,792
Ensembl chr16:1,994,864...2,001,615 		JBrowse link
G IFNG interferon gamma ISO OMIM NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:696,710...698,767 JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:299,835...323,210
Ensembl chr16:1,733,188...1,754,175 		JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:869,449...973,456 JBrowse link
G LOC100972985 meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:835,420...874,178 JBrowse link
G LOC100975679 acylpyruvase FAHD1, mitochondrial ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:449,359...451,070 JBrowse link
G LOC100977490 ras-related protein Rab-26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,006,847...1,012,263 JBrowse link
G LOC100978423 tryptase beta-2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G LOC100990880 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:39,543...41,134
Ensembl chr16:1,474,158...1,475,201 		JBrowse link
G LOC100992459 hydroxyacylglutathione hydrolase, mitochondrial ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:431,417...455,211 JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:327,995...392,691
Ensembl chr16:1,759,171...1,821,246 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:728,365...730,423 JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558 		JBrowse link
G MSLN mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:777,146...783,449 JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:761,003...766,102
Ensembl chr16:2,028,487...2,032,636 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005 		JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:664,310...676,640
Ensembl chr16:2,115,583...2,127,069 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:392,694...394,106
Ensembl chr16:1,822,719...1,824,147 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:720,087...725,567 JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:682,746...684,569 JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:405,264...411,626 JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,070,291...1,073,123 JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:585,901...600,482 JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chr16:604,366...605,560 JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:105,005...113,730
Ensembl chr16:1,540,411...1,543,413 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:606,023...640,714 JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:690,053...692,580 JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:682,588...687,861 JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:735,302...737,776
Ensembl chr16:2,055,918...2,057,965 		JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:749,186...760,331
Ensembl chr16:2,033,466...2,043,719 		JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:739,562...742,323
Ensembl chr16:2,051,128...2,054,086 		JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:800,191...806,007 JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369 		JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:399,090...405,020
Ensembl chr16:1,830,040...1,835,504 		JBrowse link
G SSTR5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:694,414...696,682 JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:710,090...714,421
Ensembl chr16:2,078,645...2,083,100 		JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:725,629...732,350
Ensembl chr16:2,061,199...2,067,715 		JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337 		JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:152,459...178,785
Ensembl chr16:1,588,454...1,609,649 		JBrowse link
G TPSG1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,222,933...1,226,415 JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 OMIM
ClinVar		 PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,404,927...1,411,747 JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,367,288...1,382,575 JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:11,145...39,682
Ensembl chr16:1,418,377...1,457,134 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:699,142...704,869 JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:661,264...681,977 JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:694,562...706,711
Ensembl chr16:2,086,844...2,092,277 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007 		JBrowse link
G ASCC2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,832,102...10,881,987
Ensembl chr22:28,637,041...28,686,003 		JBrowse link
G C23H22orf31 chromosome 23 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,114,034...10,129,561
Ensembl chr22:27,813,912...27,817,168 		JBrowse link
G CABP7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,763,495...10,775,460 JBrowse link
G CCDC117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,841,876...9,891,088
Ensembl chr22:27,544,719...27,561,144 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,757,038...9,811,171 JBrowse link
G EMID1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,261,598...10,315,182
Ensembl chr22:28,070,033...28,122,186 		JBrowse link
G EWSR1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134 		JBrowse link
G GAS2L1 growth arrest specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,362,391...10,368,173
Ensembl chr22:28,169,387...28,175,278 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,811,294...9,826,245
Ensembl chr22:27,512,564...27,527,914 		JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,128,326...10,202,548
Ensembl chr22:27,828,011...28,031,917 		JBrowse link
G LOC100968432 cytochrome b-c1 complex subunit 9 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,810,858...10,813,466
Ensembl chr22:28,615,583...28,618,426 		JBrowse link
G MTMR3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,925,275...11,072,554
Ensembl chr22:28,818,273...28,872,982 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,525,738...10,536,788 JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM
ClinVar		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G NIPSNAP1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,600,285...10,626,474
Ensembl chr22:28,406,638...28,432,897 		JBrowse link
G RASL10A RAS like family 10 member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,368,321...10,371,137 JBrowse link
G RFPL1 ret finger protein like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...
G RHBDD3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,315,438...10,323,803
Ensembl chr22:28,123,115...28,131,090 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
G THOC5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,553,665...10,599,948
Ensembl chr22:28,357,644...28,404,346 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327 PMID:20406973 RGD:8547955 RGD:8547957 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G XBP1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943 		JBrowse link
G ZMAT5 zinc finger matrin-type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,774,446...10,810,609
Ensembl chr22:28,580,010...28,615,498 		JBrowse link
G ZNRF3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:64,737,006...64,750,353 JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    syndrome 10220
      ectodermal dysplasia 537
        ACCES Syndrome 1
        ADULT syndrome 1
        AREDYLD Syndrome 0
        Adams-Oliver syndrome + 93
        Alves Castelo dos Santos Syndrome 0
        Anal Sphincter Dysplasia 0
        Aplasia Cutis Congenita of Limbs Recessive 0
        Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
        Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
        Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
        Arthrogryposis and Ectodermal Dysplasia 1
        BASAN syndrome 1
        Bresheck/Bresek Syndrome 0
        Brunoni Syndrome 0
        CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
        Cerebellar Ataxia and Ectodermal Dysplasia 0
        Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
        Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 1
        Clouston syndrome 10
        Congenital Ectodermal Dysplasia with Hearing Loss 0
        Deafness with Anhidrotic Ectodermal Dysplasia 0
        Dermatoosteolysis Kirghizian Type 0
        ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES 1
        ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
        EEC syndrome + 1
        Ectodermal Dysplasia Adrenal Cyst 0
        Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
        Ectodermal Dysplasia and Neurosensory Deafness 0
        Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 0
        Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
        Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
        Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
        Ectodermal Dysplasia, Trichoodontoonychial Type 0
        Ectodermal Dysplasia-Skin Fragility Syndrome 2
        Ectodermal Dysplasia-Syndactyly Syndrome + 1
        Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
        Ellis-Van Creveld syndrome + 51
        Euhidrotic Ectodermal Dysplasia 0
        Focal Facial Dermal Dysplasia + 2
        Freire-Maia Odontotrichomelic Syndrome 0
        Halal Setton Wang Syndrome 0
        Hay Wells Syndrome Recessive Type 0
        Hidrotic Ectodermal Dysplasia, Autosomal Recessive 0
        Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 0
        Johanson-Blizzard syndrome 1
        Jones Hersh Yusk Syndrome 0
        Ladda Zonana Ramer Syndrome 0
        Lelis Syndrome 0
        Marshall syndrome + 4
        NEMO Mutation with Immunodeficiency 0
        Naegeli-Franceschetti-Jadassohn syndrome 1
        Neurocutaneous Syndromes + 358
        Odontomicronychial Dysplasia 0
        Odontoonychodermal Dysplasia 1
        Odontotrichoungual-Digital-Palmar Syndrome 0
        Ohdo syndrome + 4
        Papillon-Lefevre disease + 3
        Pinheiro Freire-Maia Miranda Syndrome 0
        Rapp-Hodgkin syndrome 1
        Robinson Miller Bensimon Syndrome 0
        Rosselli-Gulienetti Syndrome 0
        Schinzel Giedion syndrome 1
        Schopf-Schulz-Passarge syndrome 1
        Sener Syndrome 0
        Seres-Santamaria Arimany Muniz Syndrome 0
        Taurodontia, Absent Teeth, Sparse Hair 0
        Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
        Trichodental Syndrome 0
        Trichoodontoonychial Dysplasia 0
        Trichoscyphodysplasia 0
        Trueb Burg Bottani Syndrome 0
        Yunis-Varon syndrome 2
        ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
        cardiofaciocutaneous syndrome + 8
        cartilage-hair hypoplasia 1
        cleft lip-palate-ectodermal dysplasia syndrome 1
        cranioectodermal dysplasia + 9
        dermatopathia pigmentosa reticularis 1
        ectodermal dysplasia 13 2
        ectodermal dysplasia 14 1
        ectodermal dysplasia 8 0
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        focal dermal hypoplasia 4
        hypohidrotic ectodermal dysplasia + 25
        junctional epidermolysis bullosa with pyloric atresia 4
        linear skin defects with multiple congenital anomalies 2 1
        nonsyndromic aplasia cutis congenita 1
        oculoectodermal syndrome 3
        orofacial cleft 7 + 1
        pachyonychia congenita + 4
        palmoplantar keratoderma and congenital alopecia 1 1
        palmoplantar keratoderma and congenital alopecia 2 0
        photosensitive trichothiodystrophy 1 2
        pure hair and nail ectodermal dysplasia + 2
        scalp-ear-nipple syndrome 1
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      nervous system disease 13321
        Neurologic Manifestations 9655
          sensory system disease 6646
            skin disease 3779
              Genetic Skin Diseases 1837
                ectodermal dysplasia 537
                  ACCES Syndrome 1
                  ADULT syndrome 1
                  AREDYLD Syndrome 0
                  Adams-Oliver syndrome + 93
                  Alves Castelo dos Santos Syndrome 0
                  Anal Sphincter Dysplasia 0
                  Aplasia Cutis Congenita of Limbs Recessive 0
                  Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
                  Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
                  Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                  Arthrogryposis and Ectodermal Dysplasia 1
                  BASAN syndrome 1
                  Bresheck/Bresek Syndrome 0
                  Brunoni Syndrome 0
                  CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
                  Cerebellar Ataxia and Ectodermal Dysplasia 0
                  Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
                  Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 1
                  Clouston syndrome 10
                  Congenital Ectodermal Dysplasia with Hearing Loss 0
                  Deafness with Anhidrotic Ectodermal Dysplasia 0
                  Dermatoosteolysis Kirghizian Type 0
                  ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES 1
                  ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
                  EEC syndrome + 1
                  Ectodermal Dysplasia Adrenal Cyst 0
                  Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                  Ectodermal Dysplasia and Neurosensory Deafness 0
                  Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 0
                  Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                  Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
                  Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
                  Ectodermal Dysplasia, Trichoodontoonychial Type 0
                  Ectodermal Dysplasia-Skin Fragility Syndrome 2
                  Ectodermal Dysplasia-Syndactyly Syndrome + 1
                  Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
                  Ellis-Van Creveld syndrome + 51
                  Euhidrotic Ectodermal Dysplasia 0
                  Focal Facial Dermal Dysplasia + 2
                  Freire-Maia Odontotrichomelic Syndrome 0
                  Halal Setton Wang Syndrome 0
                  Hay Wells Syndrome Recessive Type 0
                  Hidrotic Ectodermal Dysplasia, Autosomal Recessive 0
                  Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 0
                  Johanson-Blizzard syndrome 1
                  Jones Hersh Yusk Syndrome 0
                  Ladda Zonana Ramer Syndrome 0
                  Lelis Syndrome 0
                  Marshall syndrome + 4
                  NEMO Mutation with Immunodeficiency 0
                  Naegeli-Franceschetti-Jadassohn syndrome 1
                  Neurocutaneous Syndromes + 358
                  Odontomicronychial Dysplasia 0
                  Odontoonychodermal Dysplasia 1
                  Odontotrichoungual-Digital-Palmar Syndrome 0
                  Ohdo syndrome + 4
                  Papillon-Lefevre disease + 3
                  Pinheiro Freire-Maia Miranda Syndrome 0
                  Rapp-Hodgkin syndrome 1
                  Robinson Miller Bensimon Syndrome 0
                  Rosselli-Gulienetti Syndrome 0
                  Schinzel Giedion syndrome 1
                  Schopf-Schulz-Passarge syndrome 1
                  Sener Syndrome 0
                  Seres-Santamaria Arimany Muniz Syndrome 0
                  Taurodontia, Absent Teeth, Sparse Hair 0
                  Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                  Trichodental Syndrome 0
                  Trichoodontoonychial Dysplasia 0
                  Trichoscyphodysplasia 0
                  Trueb Burg Bottani Syndrome 0
                  Yunis-Varon syndrome 2
                  ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                  cardiofaciocutaneous syndrome + 8
                  cartilage-hair hypoplasia 1
                  cleft lip-palate-ectodermal dysplasia syndrome 1
                  cranioectodermal dysplasia + 9
                  dermatopathia pigmentosa reticularis 1
                  ectodermal dysplasia 13 2
                  ectodermal dysplasia 14 1
                  ectodermal dysplasia 8 0
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                  focal dermal hypoplasia 4
                  hypohidrotic ectodermal dysplasia + 25
                  junctional epidermolysis bullosa with pyloric atresia 4
                  linear skin defects with multiple congenital anomalies 2 1
                  nonsyndromic aplasia cutis congenita 1
                  oculoectodermal syndrome 3
                  orofacial cleft 7 + 1
                  pachyonychia congenita + 4
                  palmoplantar keratoderma and congenital alopecia 1 1
                  palmoplantar keratoderma and congenital alopecia 2 0
                  photosensitive trichothiodystrophy 1 2
                  pure hair and nail ectodermal dysplasia + 2
                  scalp-ear-nipple syndrome 1
paths to the root