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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:short-rib thoracic dysplasia 9 with or without polydactyly
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Accession:DOID:0110097 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: MZSDS;   Mainzer-Saldino chondrodysplasia;   Mainzer-Saldino disease;   Mainzer-Saldino syndrome;   SRTD9;   conorenal dysplasia;   conorenal syndrome;   renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;   short-rib thoracic dysplasia 9
 related_synonym: short-rib thoracic dysplasia without polydactyly
 primary_id: MESH:C535463
 alt_id: OMIM:266920


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short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,310,289...13,433,816
Ensembl chrNW_004955442:13,310,289...13,434,971
JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,752,468...12,775,081
Ensembl chrNW_004955442:12,752,008...12,775,081
JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,482,450...16,484,164
Ensembl chrNW_004955442:16,482,450...16,484,164
JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,901,951...16,903,147
Ensembl chrNW_004955442:16,898,552...16,903,685
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,791,795...14,798,066
Ensembl chrNW_004955442:14,791,795...14,798,066
JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,845,728...16,898,301
Ensembl chrNW_004955442:16,843,152...16,898,430
JBrowse link
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,884,034...15,897,894
Ensembl chrNW_004955442:15,884,034...15,898,396
JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,306,144...14,314,060
Ensembl chrNW_004955442:14,306,041...14,313,620
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
JBrowse link
G C1qtnf8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,159,901...16,162,152 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,047,965...16,108,862
Ensembl chrNW_004955442:16,045,895...16,108,862
JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,649,600...16,674,252
Ensembl chrNW_004955442:16,650,806...16,662,086
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,792,593...15,800,410
Ensembl chrNW_004955442:15,793,049...15,800,364
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,478,219...16,482,452
Ensembl chrNW_004955442:16,478,795...16,482,263
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,895,403...12,913,517
Ensembl chrNW_004955442:12,895,702...12,913,517
JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,414,564...16,423,386 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,465,759...16,475,110
Ensembl chrNW_004955442:16,465,178...16,475,110
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,762,369...15,791,635
Ensembl chrNW_004955442:15,761,498...15,791,635
JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,323,193...14,326,311
Ensembl chrNW_004955442:14,323,193...14,326,311
JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,326,705...14,328,150
Ensembl chrNW_004955442:14,327,140...14,327,793
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,843,952...13,890,082
Ensembl chrNW_004955442:13,842,784...13,885,860
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,010,032...13,084,897
Ensembl chrNW_004955442:13,009,977...13,084,355
JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,563,545...15,625,163
Ensembl chrNW_004955442:15,563,355...15,624,886
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,890,284...13,892,362 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,834,662...12,879,308
Ensembl chrNW_004955442:12,839,570...12,879,144
JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,799,927...16,807,199
Ensembl chrNW_004955442:16,797,190...16,807,199
JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,738,888...12,752,306 JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,971,031...13,002,605
Ensembl chrNW_004955442:12,967,438...13,010,943
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,733,107...13,736,527 JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014
JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,498,666...14,501,895
Ensembl chrNW_004955442:14,498,725...14,502,135
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,492,925...15,496,639
Ensembl chrNW_004955442:15,493,911...15,496,620
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,450,066...15,451,797 JBrowse link
G Fam234a family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,915,630...16,950,809
Ensembl chrNW_004955442:16,912,388...16,951,432
JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,498,903...16,510,640
Ensembl chrNW_004955442:16,498,903...16,510,635
JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,392,901...14,419,178
Ensembl chrNW_004955442:14,386,276...14,418,328
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,097,636...13,113,514
Ensembl chrNW_004955442:13,097,636...13,105,210
JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,408,295...16,414,608
Ensembl chrNW_004955442:16,408,295...16,414,608
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,475,155...16,478,147
Ensembl chrNW_004955442:16,475,384...16,477,623
JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,318,071...14,319,549
Ensembl chrNW_004955442:14,318,071...14,319,549
JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,913,983...12,947,412
Ensembl chrNW_004955442:12,913,983...12,920,152
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,337,106...15,344,453
Ensembl chrNW_004955442:15,337,106...15,347,251
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chrNW_004955442:15,625,429...15,719,006
Ensembl chrNW_004955442:15,630,501...15,718,484
JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115
JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,519,394...16,521,106
Ensembl chrNW_004955442:16,519,397...16,521,106
JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,549,223...15,563,027
Ensembl chrNW_004955442:15,549,223...15,563,268
JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,658,612...14,684,928
Ensembl chrNW_004955442:14,658,612...14,684,928
JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,376,466...14,381,106
Ensembl chrNW_004955442:14,376,466...14,381,106
JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,250,131...16,360,907
Ensembl chrNW_004955442:16,245,081...16,360,846
JBrowse link
G LOC102009553 chromosome unknown open reading frame, human C16orf91 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,820,684...15,821,784
Ensembl chrNW_004955442:15,820,753...15,825,390
JBrowse link
G LOC102028688 olfactory receptor 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,000,372...14,005,737
Ensembl chrNW_004955442:14,000,372...14,001,310
JBrowse link
G Luc7l LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,965,788...16,997,329
Ensembl chrNW_004955442:16,965,788...16,997,329
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,498,909...15,545,298
Ensembl chrNW_004955442:15,498,909...15,545,298
JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,554,321...16,559,404
Ensembl chrNW_004955442:16,554,321...16,559,404
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,409,344...15,444,996
Ensembl chrNW_004955442:15,409,344...15,444,996
JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,485,482...16,488,949
Ensembl chrNW_004955442:16,485,482...16,488,949
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,571,339...16,572,780
Ensembl chrNW_004955442:16,570,831...16,572,780
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,780,795...12,823,716
Ensembl chrNW_004955442:12,781,539...12,824,222
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300
JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,288,139...14,302,154
Ensembl chrNW_004955442:14,286,615...14,300,737
JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,831,641...16,835,133
Ensembl chrNW_004955442:16,831,913...16,834,878
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,496,639...15,497,757
Ensembl chrNW_004955442:15,496,639...15,497,757
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,322,961...15,328,311
Ensembl chrNW_004955442:15,323,039...15,327,406
JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,895,248...13,926,152
Ensembl chrNW_004955442:13,895,248...13,918,723
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,306,688...15,309,281
Ensembl chrNW_004955442:15,306,741...15,309,167
JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,224,214...15,235,372
Ensembl chrNW_004955442:15,224,214...15,235,379
JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,634,672...16,637,815 JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,795,322...13,834,362
Ensembl chrNW_004955442:13,814,434...13,833,222
JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,497,779...15,498,873
Ensembl chrNW_004955442:15,497,779...15,498,873
JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,808,215...16,811,302
Ensembl chrNW_004955442:16,808,215...16,811,302
JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,960,559...12,967,186
Ensembl chrNW_004955442:12,959,931...12,967,282
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,288,495...15,290,601
Ensembl chrNW_004955442:15,288,602...15,290,418
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,241,140...15,244,387
Ensembl chrNW_004955442:15,241,231...15,242,064
JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,210,799...15,223,272
Ensembl chrNW_004955442:15,217,019...15,223,272
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,838,076...14,840,857
Ensembl chrNW_004955442:14,838,076...14,840,857
JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,482,916...15,486,830
Ensembl chrNW_004955442:15,483,549...15,486,741
JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,761,962...12,777,549
Ensembl chrNW_004955442:12,775,630...12,777,549
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,087,082...13,097,048
Ensembl chrNW_004955442:13,087,092...13,097,048
JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,373,092...14,375,862
Ensembl chrNW_004955442:14,373,092...14,375,862
JBrowse link
G Pdia2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,898,563...16,901,867
Ensembl chrNW_004955442:16,898,635...16,901,799
JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,685,089...14,772,870
Ensembl chrNW_004955442:14,685,153...14,772,870
JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,821,275...16,830,275 JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,620,009...16,635,308
Ensembl chrNW_004955442:16,620,009...16,631,343
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,368,110...14,372,365
Ensembl chrNW_004955442:14,364,031...14,372,365
JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,639,379...16,644,669
Ensembl chrNW_004955442:16,639,369...16,645,512
JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,618,859...14,623,508
Ensembl chrNW_004955442:14,618,859...14,623,508
JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,636,739...14,656,877
Ensembl chrNW_004955442:14,651,902...14,656,877
JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,521,485...14,524,632
Ensembl chrNW_004955442:14,521,485...14,524,632
JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,527,717...14,532,265 JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,750,881...15,757,906
Ensembl chrNW_004955442:15,752,957...15,756,801
JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,678,136...16,760,663
Ensembl chrNW_004955442:16,674,867...16,736,921
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123
JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,577,843...16,614,132
Ensembl chrNW_004955442:16,577,843...16,614,639
JBrowse link
G Rgs11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,905,982...16,914,772
Ensembl chrNW_004955442:16,905,982...16,914,772
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,525,009...16,528,780
Ensembl chrNW_004955442:16,525,009...16,528,780
JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,528,886...16,534,856 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,300,228...15,303,645
Ensembl chrNW_004955442:15,300,178...15,302,171
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,995,404...15,009,358
Ensembl chrNW_004955442:14,995,404...15,009,358
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,694,197...12,700,181
Ensembl chrNW_004955442:12,694,197...12,700,181
JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,311,336...15,322,578
Ensembl chrNW_004955442:15,313,729...15,322,578
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,304,306...15,306,599 JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,423,526...16,426,623
Ensembl chrNW_004955442:16,423,526...16,430,265
JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,704,546...12,717,905
Ensembl chrNW_004955442:12,705,034...12,719,140
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314
JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,700,461...12,701,283
Ensembl chrNW_004955442:12,700,461...12,701,283
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,236,286...16,241,093
Ensembl chrNW_004955442:16,236,232...16,241,152
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,486,845...15,493,422
Ensembl chrNW_004955442:15,487,475...15,493,422
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,200,237...13,242,816
Ensembl chrNW_004955442:13,200,440...13,238,227
JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,478,350...14,498,152
Ensembl chrNW_004955442:14,482,154...14,497,639
JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,169,069...16,176,054
Ensembl chrNW_004955442:16,168,941...16,176,203
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,521,130...16,523,733
Ensembl chrNW_004955442:16,521,130...16,523,468
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,273,597...15,277,740
Ensembl chrNW_004955442:15,272,692...15,277,765
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,290,759...15,297,070
Ensembl chrNW_004955442:15,290,759...15,297,442
JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,856,517...14,862,391
Ensembl chrNW_004955442:14,856,269...14,862,338
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,719,082...15,733,527
Ensembl chrNW_004955442:15,719,521...15,734,087
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,160,467...13,174,288
Ensembl chrNW_004955442:13,160,450...13,175,057
JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,314,100...14,317,726
Ensembl chrNW_004955442:14,314,100...14,317,724
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,678,938...15,701,554
Ensembl chrNW_004955442:15,676,155...15,701,554
JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,320,159...14,322,146
Ensembl chrNW_004955442:14,320,159...14,322,146
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,881,663...15,884,222
Ensembl chrNW_004955442:15,881,678...15,884,008
JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,828,567...12,834,355
Ensembl chrNW_004955442:12,828,567...12,834,355
JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,902,026...15,913,033
Ensembl chrNW_004955442:15,901,980...15,913,037
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,827,352...15,870,561
Ensembl chrNW_004955442:15,827,350...15,870,561
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,060,923...13,071,303
Ensembl chrNW_004955442:13,060,923...13,071,303
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,513,074...16,519,296
Ensembl chrNW_004955442:16,513,448...16,519,296
JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,534,951...16,552,856
Ensembl chrNW_004955442:16,535,176...16,552,781
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,573,094...16,577,650
Ensembl chrNW_004955442:16,569,046...16,577,650
JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,569,492...14,572,282 JBrowse link
G Znf174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,966,438...13,977,583
Ensembl chrNW_004955442:13,966,877...13,976,452
JBrowse link
G Znf200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,099,237...14,123,739
Ensembl chrNW_004955442:14,100,879...14,122,310
JBrowse link
G Znf205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,242,239...14,249,276
Ensembl chrNW_004955442:14,242,423...14,249,309
JBrowse link
G Znf213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,217,982...14,228,064
Ensembl chrNW_004955442:14,218,810...14,228,151
JBrowse link
G Znf263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,053,845...14,061,497
Ensembl chrNW_004955442:14,053,851...14,061,497
JBrowse link
G Znf597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,926,675...13,933,490
Ensembl chrNW_004955442:13,926,440...13,935,055
JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,253,649...15,265,420
Ensembl chrNW_004955442:15,252,927...15,269,087
JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,033,491...14,045,086 JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,270,056...14,280,877 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9334
      asphyxiating thoracic dystrophy 222
        short-rib thoracic dysplasia 9 with or without polydactyly 155
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      nervous system disease 12089
        central nervous system disease 10855
          brain disease 10187
            movement disease 2340
              Dyskinesias 2003
                Ataxia 876
                  hereditary ataxia 594
                    cerebellar ataxia 442
                      short-rib thoracic dysplasia 9 with or without polydactyly 155
paths to the root