ONTOLOGY REPORT - ANNOTATIONS


Term:ciliopathy
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Accession:DOID:0060340 term browser browse the term
Definition:Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA  and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.
Synonyms:exact_synonym: ciliopathies
 primary_id: MESH:D000072661
 alt_id: RDO:0016119;   RDO:9001145
For additional species annotation, visit the Alliance of Genome Resources.


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ciliopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam92a family with sequence similarity 92 member A JBrowse link 5 25,732,457 25,750,953 RGD:11554173
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:13592920
G Nek4 NIMA-related kinase 4 JBrowse link 16 7,035,002 7,080,272 RGD:8554872
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:13592920
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552606
RGD:13592920
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169
RGD:8554872
RGD:11554173
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696013
RGD:7240710
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
Bardet-Biedl syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:1578724
RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:1579969
RGD:8554872
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:11352646
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:70665
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:1579974
RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:1579975
RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:9684996
RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:9685059
RGD:8554872
G Cep19 centrosomal protein 19 JBrowse link 11 71,921,713 71,938,335 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:11554173
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:8554872
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 JBrowse link 12 4,546,240 4,546,871 RGD:8554872
G Htr2b 5-hydroxytryptamine receptor 2B JBrowse link 9 93,112,781 93,130,135 RGD:8554872
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Mdh1 malate dehydrogenase 1 JBrowse link 14 106,378,349 106,393,642 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:1601414
RGD:8554872
RGD:1581208
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:11070512
RGD:8554872
RGD:11554173
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:11352646
G Psmd1 proteasome 26S subunit, non-ATPase 1 JBrowse link 9 93,080,618 93,155,033 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11070512
RGD:8554872
RGD:11554173
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:1624129
RGD:8554872
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:1624198
RGD:8554872
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Bardet-Biedl syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
RGD:7240710
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:7240710
RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
BARDET-BIEDL SYNDROME 1/2, DIGENIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
Bardet-Biedl syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:7240710
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
Bardet-Biedl syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:7240710
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
RGD:7240710
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
Bardet-Biedl syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:7240710
BARDET-BIEDL SYNDROME 2/4, DIGENIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
BARDET-BIEDL SYNDROME 2/6, DIGENIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
Bardet-Biedl syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
Bardet-Biedl syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome, 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome, 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 JBrowse link 5
5
24,145,829
23,358,464
24,165,467
23,377,697
RGD:8554872
RGD:7240710
Caroli disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314213
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11528287
Ciliary Motility Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:8554872
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:8554872
G Dnah7 dynein, axonemal, heavy chain 7 JBrowse link 9
9
60,070,087
59,564,253
60,330,121
59,595,347
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:11554173
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:1599600
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11554173
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
Joubert syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Armc9 armadillo repeat containing 9 JBrowse link 9 93,172,718 93,299,119 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
RGD:12911208
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 JBrowse link 2 88,384,796 88,414,012 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Rcor1 REST corepressor 1 JBrowse link 6 135,475,470 135,552,155 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:11067331
RGD:8554872
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:11561921
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:13592920
Joubert syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:7240710
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G Micall2 MICAL-like 2 JBrowse link 12 16,988,013 17,016,794 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:11554173
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535965
RGD:11535963
Joubert Syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
Joubert Syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:7240710
Joubert syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd6 C2 calcium dependent domain containing 6 JBrowse link 9 65,817,039 65,879,564 RGD:8554872
G Mpp4 membrane palmitoylated protein 4 JBrowse link 9 65,917,917 65,961,274 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:7240710
RGD:8554872
Joubert syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:7240710
RGD:8554872
Joubert Syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:7240710
RGD:8554872
Joubert Syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:7240710
RGD:8554872
RGD:11537349
Joubert Syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn3 tectonic family member 3 JBrowse link 1 259,681,435 259,691,881 RGD:7240710
RGD:8554872
Joubert Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11561919
Joubert syndrome 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:7240710
RGD:8554872
Joubert syndrome 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 JBrowse link 5 8,666,046 8,760,458 RGD:8554872
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link 5 8,761,293 8,876,205 RGD:7240710
RGD:8554872
Joubert Syndrome 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6d phosphodiesterase 6D JBrowse link 9 93,562,099 93,607,061 RGD:7240710
RGD:8554872
Joubert Syndrome 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:7240710
RGD:8554872
Joubert syndrome 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:7240710
RGD:8554872
Joubert Syndrome 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep104 centrosomal protein 104 JBrowse link 5 171,262,278 171,294,560 RGD:8554872
RGD:7240710
Joubert Syndrome 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
RGD:7240710
Joubert Syndrome 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
RGD:7240710
Joubert Syndrome 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710
Joubert syndrome 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:1598905
RGD:8554872
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
Joubert syndrome 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc9 armadillo repeat containing 9 JBrowse link 9 93,172,718 93,299,119 RGD:8554872
RGD:7240710
Joubert syndrome 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:8554872
RGD:7240710
Joubert syndrome 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:8554872
RGD:7240710
Joubert syndrome 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
RGD:7240710
JOUBERT SYNDROME 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:8554872
RGD:7240710
Joubert syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:7246903
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:7246903
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:11068164
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537352
RGD:7246903
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11072184
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
Joubert syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:7240710
RGD:8554872
RGD:11553937
Joubert syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
RGD:11535976
RGD:11062645
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
RGD:7240710
Kartagener syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:13592920
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
RGD:11554173
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
RGD:11554173
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:11554173
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:734893
RGD:13592920
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:1601080
RGD:13592920
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:1601083
RGD:8554872
RGD:11554173
RGD:7240710
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
RGD:11554173
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11250592
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph3 radial spoke head 3 JBrowse link 1 47,412,151 47,478,924 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
Meckel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:13592920
RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:13592920
RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link 5 8,761,293 8,876,205 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Exoc3l2 exocyst complex component 3-like 2 JBrowse link 1 80,372,708 80,404,275 RGD:8554872
G Exoc4 exocyst complex component 4 JBrowse link 4 60,549,128 61,358,305 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:13592920
RGD:8554872
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:13592920
RGD:8554872
G Tmem91 transmembrane protein 91 JBrowse link 1 82,463,824 82,471,310 RGD:8554872
G Txndc15 thioredoxin domain containing 15 JBrowse link 17 9,429,171 9,441,628 RGD:8554872
Meckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:7240710
RGD:8554872
RGD:11535078
RGD:11535074
RGD:11535068
RGD:11535065
RGD:11063991
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
RGD:7240710
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11067331
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535945
RGD:11535082
RGD:11535080
RGD:11535078
RGD:11068761
RGD:11063991
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11070805
Meckel syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
Meckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Meckel syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif14 kinesin family member 14 JBrowse link 13 53,350,073 53,421,992 RGD:8554872
RGD:7240710
Meckel Syndrome, Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:7240710
RGD:8554872
nephronophthisis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
nephronophthisis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:7240710
RGD:8554872
primary ciliary dyskinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:8554872
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Cby1 chibby family member 1, beta catenin antagonist JBrowse link 7 120,891,930 120,898,318 RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:8554872
RGD:13592920
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Dpcd deleted in primary ciliary dyskinesia JBrowse link 1 265,298,872 265,318,521 RGD:13592920
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:13592920
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spef2 sperm flagellar 2 JBrowse link 2 58,901,937 59,084,194 RGD:13592920
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G Ttll1 tubulin tyrosine ligase like 1 JBrowse link 7 124,338,396 124,367,719 RGD:13592920
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
primary ciliary dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:13592920
primary ciliary dyskinesia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
RGD:7240710
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
primary ciliary dyskinesia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
RGD:7240710
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
primary ciliary dyskinesia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:7240710
RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
primary ciliary dyskinesia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:7240710
RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
primary ciliary dyskinesia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
RGD:7240710
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
primary ciliary dyskinesia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
primary ciliary dyskinesia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:7240710
RGD:8554872
primary ciliary dyskinesia 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph3 radial spoke head 3 JBrowse link 1 47,412,151 47,478,924 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gas8 growth arrest specific 8 JBrowse link 19 56,316,367 56,335,873 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 JBrowse link 1 165,515,718 165,530,163 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc25 tetratricopeptide repeat domain 25 JBrowse link 10 88,459,490 88,488,237 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 36, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pih1d3 PIH1 domain containing 3 JBrowse link X 111,389,557 111,439,399 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap300 cilia and flagella associated protein 300 JBrowse link 8 6,218,391 6,236,438 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah9 dynein, axonemal, heavy chain 9 JBrowse link 10 52,351,226 52,711,289 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nme8 NME/NM23 family member 8 JBrowse link 17 47,300,932 47,368,543 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:7240710
RGD:8554872
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      ciliopathy 192
        Alstrom syndrome 2
        Bardet-Biedl syndrome + 38
        Caroli disease + 2
        Ciliary Motility Disorders + 93
        Joubert syndrome + 59
        Meckel syndrome + 26
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            ciliopathy 192
              Alstrom syndrome 2
              Bardet-Biedl syndrome + 38
              Caroli disease + 2
              Ciliary Motility Disorders + 93
              Joubert syndrome + 59
              Meckel syndrome + 26
paths to the root

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