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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Marfan syndrome
go back to main search page
Accession:DOID:14323 term browser browse the term
Definition:A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (DO)
Synonyms:exact_synonym: MFS;   MFS1;   Marfan syndrome, type I;   Marfan's syndrome;   Marfans syndrome
 narrow_synonym: Marfan Syndrome, Incomplete;   Marfan syndrome, atypical;   Marfan syndrome, mild variable;   Marfan syndrome, neonatal;   Marfan syndrome, severe classic
 related_synonym: Marfanoid habitus
 primary_id: MESH:D008382
 alt_id: OMIM:154700
 xref: GARD:6975;   ICD10CM:Q87.4;   ICD10CM:Q87.40;   ICD9CM:759.82;   NCI:C34807
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Marfan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Marfan's syndrome ClinVar PMID:17492313 NCBI chr 3:117,822,799...117,894,856 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:1978725, PMID:2985635, PMID:9399846, PMID:9923651, PMID:15172002, PMID:18028452, PMID:25741868, PMID:26432670, PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: Marfan syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: Marfan syndrome
ClinVar PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:21063442, PMID:25741868, PMID:26787436, PMID:28492532 NCBI chr 3:117,406,300...117,416,786
Ensembl chr 3:117,416,345...117,416,786
JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:21063442, PMID:25741868, PMID:26787436, PMID:28492532 NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
JBrowse link
G Fbn1 fibrillin 1 severity
treatment
ISO DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan syndrome, atypical
ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: Marfan syndrome, neonatal
DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.D2485V (c.7454A>T) (human)
DNA:missense mutation, nonsense mutation:exon:p.C271X (c.813C>A), p.C637Y (c.1910G>A) (human)
DNA:missense mutation, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations:exon, intron:multiple
DNA:splice-site mutations:intron:multiple
DNA:missense mutations:exon:p.C1182W (3546C>G), p.C2232Y (6695G>A), p.C2577R (7729T>C) (human)
DNA:missense mutation:exon:p.C596G (c.1786T>G) (human)
DNA:missense mutation:exon:p.S1235P (c.3703T>C) (human)
DNA:missense mutation:exon:p.C790S (c.2368T>A) (human)
DNA:missense mutation, nonsense mutations: :p.C2663S (c.8121G>C), p.Q136X (c.719C>T), p.Q1366X (c.4229 T>C) (human)
DNA:deletion, nonsense mutation, splice-site mutation:exon, intron:p.G835_L838del (c.2502_2513delTGAAAGTACTTT), p.R1596X, c.989-1G>C (human)
DNA:missense mutation:exon:p.C1008R (c.3022T>C) (human)
DNA:deletion, insertion:exon:multiple
DNA:deletion, missense mutations:exon:multiple
DNA:missense mutation:exon:p.S322C (965C>G) (human)
ClinVar Annotator: match by OMIM:154700
ClinVar Annotator: match by term: Marfan syndrome, severe classic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Marfan syndrome, mild variable
ClinVar
CTD
OMIM
PMID:952872, PMID:1301946, PMID:1569206, PMID:1631074, PMID:1729284, PMID:1765782, PMID:1852208, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7633409, PMID:7738200, PMID:7762551, PMID:7778680, PMID:7802039, PMID:7842017, PMID:7870075, PMID:7896820, PMID:7911051, PMID:7951214, PMID:7977366, PMID:8004112, PMID:8040326, PMID:8071963, PMID:8101042, PMID:8111384, PMID:8136837, PMID:8180508, PMID:8188302, PMID:8281141, PMID:8353424, PMID:8406497, PMID:8428751, PMID:8430317, PMID:8504310, PMID:8541880, PMID:8563763, PMID:8653794, PMID:8723076, PMID:8743989, PMID:8750301, PMID:8791520, PMID:8863159, PMID:8880577, PMID:8882780, PMID:8884270, PMID:8894692, PMID:8941093, PMID:8988160, PMID:9016526, PMID:9101298, PMID:9150726, PMID:9236141, PMID:9241263, PMID:9254848, PMID:9338581, PMID:9338588, PMID:9362480, PMID:9399842, PMID:9401003, PMID:9452033, PMID:9452085, PMID:9525872, PMID:9817919, PMID:9837823, PMID:9876915, PMID:9887276, PMID:10189089, PMID:10189222, PMID:10229672, PMID:10364683, PMID:10425041, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10612827, PMID:10633129, PMID:10647894, PMID:10679954, PMID:10694921, PMID:10721679, PMID:10756346, PMID:10766875, PMID:10874320, PMID:10930463, PMID:10942427, PMID:11059536, PMID:11068200, PMID:11071382, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11175294, PMID:11251996, PMID:11278305, PMID:11391655, PMID:11453977, PMID:11524736, PMID:11700157, PMID:11702223, PMID:11706995, PMID:11710961, PMID:11722462, PMID:11748851, PMID:11780406, PMID:11810645, PMID:11826022, PMID:11829507, PMID:11875032, PMID:11880731, PMID:11933199, PMID:11967553, PMID:11992479, PMID:12068374, PMID:12130534, PMID:12130535, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12511552, PMID:12651868, PMID:12700307, PMID:12938084, PMID:12955720, PMID:14586646, PMID:14598350, PMID:14695540, PMID:15032979, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15221638, PMID:15235604, PMID:15241795, PMID:15264290, PMID:15287423, PMID:15371449, PMID:15583982, PMID:15598221, PMID:15733436, PMID:15821637, PMID:15880509, PMID:15980072, PMID:15983637, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16476890, PMID:16571647, PMID:16596670, PMID:16677079, PMID:16756980, PMID:16765689, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17027361, PMID:17224687, PMID:17242066, PMID:17253931, PMID:17324963, PMID:17366579, PMID:17418587, PMID:17449467, PMID:17492313, PMID:17503327, PMID:17568394, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17680538, PMID:17701892, PMID:17718856, PMID:17726045, PMID:17850668, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18178469, PMID:18212506, PMID:18310266, PMID:18377451, PMID:18412115, PMID:18435798, PMID:18471089, PMID:18615205, PMID:18925407, PMID:19002209, PMID:19012347, PMID:19059503, PMID:19089573, PMID:19117906, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19293848, PMID:19328768, PMID:19349279, PMID:19353630, PMID:19370756, PMID:19390640, PMID:19396033, PMID:19430350, PMID:19533785, PMID:19561590, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19763152, PMID:19780835, PMID:19802897, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20082464, PMID:20085885, PMID:20200614, PMID:20301788, PMID:20307669, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20699357, PMID:20803651, PMID:20886638, PMID:20979188, PMID:21063442, PMID:21135753, PMID:21332468, PMID:21360310, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21784848, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21909107, PMID:21932315, PMID:22005308, PMID:22034023, PMID:22140025, PMID:22219643, PMID:22262941, PMID:22393277, PMID:22406018, PMID:22539340, PMID:22539873, PMID:22736615, PMID:22772368, PMID:22772377, PMID:22876116, PMID:22913777, PMID:22950452, PMID:23133647, PMID:23278365, PMID:23505274, PMID:23506379, PMID:23577066, PMID:23590259, PMID:23608731, PMID:23653584, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23794388, PMID:23897642, PMID:24033266, PMID:24035709, PMID:24039054, PMID:24055113, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24311428, PMID:24501682, PMID:24564502, PMID:24610719, PMID:24613577, PMID:24635535, PMID:24665001, PMID:24698609, PMID:24740214, PMID:24759409, PMID:24793577, PMID:24833718, PMID:24940037, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25203624, PMID:25320358, PMID:25326635, PMID:25447171, PMID:25504618, PMID:25519456, PMID:25525159, PMID:25613431, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25656438, PMID:25736269, PMID:25741868, PMID:25812041, PMID:25834947, PMID:25839328, PMID:25852444, PMID:25863307, PMID:25900864, PMID:25907466, PMID:25944730, PMID:25966184, PMID:25979247, PMID:26017485, PMID:26026792, PMID:26133393, PMID:26188975, PMID:26214305, PMID:26269718, PMID:26272055, PMID:26281765, PMID:26332594, PMID:26333736, PMID:26410935, PMID:26498160, PMID:26621581, PMID:26684006, PMID:26747767, PMID:26770496, PMID:26787436, PMID:26796135, PMID:26875674, PMID:26928463, PMID:27011056, PMID:27112580, PMID:27146836, PMID:27153395, PMID:27160103, PMID:27175573, PMID:27229674, PMID:27234404, PMID:27353645, PMID:27437668, PMID:27527004, PMID:27582083, PMID:27611364, PMID:27625872, PMID:27647783, PMID:27724990, PMID:27884935, PMID:27893734, PMID:27906200, PMID:27914124, PMID:27930701, PMID:28027854, PMID:28050602, PMID:28087566, PMID:28098115, PMID:28117189, PMID:28254189, PMID:28277377, PMID:28301460, PMID:28321935, PMID:28387797, PMID:28492532, PMID:28497567, PMID:28539832, PMID:28642162, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28855619, PMID:28941062, PMID:28944857, PMID:28973303, PMID:29168297, PMID:29174094, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29768367, PMID:29848614, PMID:29907982, PMID:30048161, PMID:30056620, PMID:30255099, PMID:30311386, PMID:30371227, PMID:30653986, PMID:30675029, PMID:30739908, PMID:31008308, PMID:31098894, PMID:31163209, PMID:31211626, PMID:31227806, PMID:31296287, PMID:31730815, PMID:8882780, PMID:21907952, PMID:20886638, PMID:26787436, PMID:23592911, PMID:19328768, PMID:17641224, PMID:22772377, PMID:16617303, PMID:8894692, PMID:9236141, PMID:25613431, PMID:25729264, PMID:21976953, PMID:22876116, PMID:15221638, PMID:16222657, PMID:18435798, PMID:16220557, PMID:17718856, PMID:17984934, PMID:11453977, PMID:8863159, PMID:11059536, PMID:16971892, PMID:11702223 RGD:1580378, RGD:11067414, RGD:12910486, RGD:12910485, RGD:12910482, RGD:11072084, RGD:12910470, RGD:11072483, RGD:12910464, RGD:12910459, RGD:12910139, RGD:12910135, RGD:12910134, RGD:12910133, RGD:12910131, RGD:12910113, RGD:11065528, RGD:11064315, RGD:11063346, RGD:12904913, RGD:12904910, RGD:11064946, RGD:11066421, RGD:12904894, RGD:11063002, RGD:1300361 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:21459285, PMID:22581653, PMID:25741868 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:70,656,727...70,783,515
Ensembl chr13:70,658,707...70,783,515
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO CTD Direct Evidence: marker/mechanism
associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human)
CTD PMID:18178469, PMID:16820601, PMID:18178469 RGD:1582351, RGD:13204796 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469, PMID:18178469 RGD:13204796 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:154700 MouseDO NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:21063442, PMID:25741868, PMID:26787436, PMID:28492532 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfanoid habitus
ClinVar PMID:25741868, PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: Marfan syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 NCBI chr 3:116,899,906...116,958,059
Ensembl chr 3:116,899,878...116,958,050
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Marfanoid habitus ClinVar NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:21063442, PMID:25741868, PMID:26787436, PMID:28492532 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:21063442, PMID:25741868, PMID:26787436, PMID:28492532 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Marfanoid habitus ClinVar NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan's syndrome
ClinVar PMID:16596670, PMID:16791849, PMID:16928994, PMID:18781618, PMID:21267002, PMID:22414221, PMID:23884466, PMID:25521989, PMID:25741868, PMID:25944730, PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 susceptibility ISO DNA:point mutation, missense mutations: :multiple
ClinVar Annotator: match by term: Marfan syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8246946, PMID:9395234, PMID:9590282, PMID:9771922, PMID:11212236, PMID:12825850, PMID:15235604, PMID:16249459, PMID:16251899, PMID:16791849, PMID:16799921, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17344846, PMID:17345643, PMID:17470566, PMID:17935258, PMID:18781618, PMID:19006214, PMID:19875893, PMID:21251594, PMID:21524434, PMID:24033266, PMID:24055113, PMID:24793577, PMID:24941995, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27930701, PMID:28492532, PMID:30158670, PMID:15235604 RGD:1579928 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE OMIM
ClinVar
PMID:26358559, PMID:31587868 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595
JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575, PMID:21086191, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25758994, PMID:25846194, PMID:27011056, PMID:27964749, PMID:28492532, PMID:28748566, PMID:30374176 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284, PMID:7611299, PMID:8880577, PMID:8882780, PMID:10766875, PMID:16596670, PMID:17324963, PMID:21784848, PMID:24199744, PMID:26796135, PMID:27914124, PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625, PMID:10199307, PMID:10854329, PMID:14722581, PMID:16444274, PMID:17666408, PMID:17956658, PMID:20734336, PMID:22511748, PMID:22968129, PMID:24033266, PMID:24337657, PMID:24676022, PMID:25407000, PMID:25424711, PMID:25433566, PMID:25741868, PMID:26017485, PMID:26792327, PMID:27418595, PMID:27879251, PMID:28492532, PMID:29494672, PMID:29961567 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:24033266, PMID:24711937, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:23102774, PMID:24465802, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD
ClinVar
PMID:7737999, PMID:23824657, PMID:23861362, PMID:24238504, PMID:24798638, PMID:25136781, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28166282, PMID:28240702, PMID:28492532, PMID:29247119, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2647812, PMID:15731757, PMID:16596670, PMID:16791849, PMID:16799921, PMID:16928994, PMID:17652900, PMID:18455604, PMID:18781618, PMID:19159394, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:20358619, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:22772368, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28152038, PMID:28492532, PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz Syndrome
ClinVar
CTD
PMID:8246946, PMID:9395234, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18852674, PMID:19006214, PMID:19875893, PMID:19996017, PMID:20358619, PMID:20956634, PMID:21098638, PMID:21251594, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22259224, PMID:22488992, PMID:22772368, PMID:22772377, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24146167, PMID:24220024, PMID:24792536, PMID:24793577, PMID:24941995, PMID:25116393, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27146836, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28182693, PMID:28492532, PMID:28659821, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM
PMID:2647812, PMID:15731757, PMID:16596670, PMID:16791849, PMID:16928994, PMID:17652900, PMID:18070134, PMID:18455604, PMID:18781618, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28492532, PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899, PMID:18781618, PMID:19006214, PMID:22095581, PMID:22259224, PMID:23884466, PMID:24792536, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1569206, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7951214, PMID:7977366, PMID:8406497, PMID:8541880, PMID:8563763, PMID:8791520, PMID:8894692, PMID:8941093, PMID:9241263, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9452033, PMID:9837823, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10612827, PMID:10647894, PMID:10874320, PMID:10942427, PMID:11068200, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11170092, PMID:11175294, PMID:11251996, PMID:11524736, PMID:11700157, PMID:11722462, PMID:11748851, PMID:11826022, PMID:11880731, PMID:11933199, PMID:11967553, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15032979, PMID:15054843, PMID:15161917, PMID:15241795, PMID:15583982, PMID:15733436, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16476890, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17224687, PMID:17253931, PMID:17418587, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17680538, PMID:17701892, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18435798, PMID:18471089, PMID:18615205, PMID:19002209, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19446531, PMID:19533785, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19780835, PMID:19802897, PMID:19839986, PMID:19863550, PMID:20082464, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20886638, PMID:20979188, PMID:21332468, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22262941, PMID:22393277, PMID:22539873, PMID:22772377, PMID:22913777, PMID:23133647, PMID:23278365, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23897642, PMID:24033266, PMID:24039054, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24635535, PMID:24665001, PMID:24793577, PMID:24833718, PMID:25053872, PMID:25101912, PMID:25652356, PMID:25656438, PMID:25736269, PMID:25741868, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26026792, PMID:26133393, PMID:26272055, PMID:26333736, PMID:26621581, PMID:26770496, PMID:26787436, PMID:26899731, PMID:27112580, PMID:27146836, PMID:27175573, PMID:27234404, PMID:27353645, PMID:27611364, PMID:27724990, PMID:27906200, PMID:28117189, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28941062, PMID:28973303, PMID:29357934, PMID:29543232, PMID:29848614, PMID:30311386, PMID:30371227, PMID:30675029, PMID:30739908 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by OMIM:610168
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 2
ClinVar
OMIM
PMID:8246946, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12821554, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16027248, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16333834, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16885183, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17418587, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18827873, PMID:18852674, PMID:19006214, PMID:19159394, PMID:19542084, PMID:19875893, PMID:19996017, PMID:20358619, PMID:20829218, PMID:20956634, PMID:21098638, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22488992, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24220024, PMID:24793577, PMID:24941995, PMID:24983314, PMID:25116393, PMID:25203624, PMID:25326635, PMID:25326637, PMID:25637381, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27100340, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28225382, PMID:28344185, PMID:28492532, PMID:28659821, PMID:29543232, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar PMID:16247757, PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:27662471, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
ClinVar Annotator: match by OMIM:613795
OMIM
ClinVar
PMID:15350224, PMID:16828225, PMID:21217753, PMID:21778426, PMID:21815248, PMID:22167769, PMID:23554019, PMID:24033266, PMID:24804794, PMID:25644172, PMID:25741868, PMID:25944730, PMID:28185953, PMID:28492532, PMID:29392890, PMID:29510914, PMID:29717556, PMID:30661052 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532, PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,268,045...103,292,848
Ensembl chr13:103,268,068...103,292,854
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,284,660...104,321,455
Ensembl chr13:104,284,660...104,321,455
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,063,799...106,683,353
Ensembl chr13:106,463,368...106,683,436
JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,684,300...105,824,405
Ensembl chr13:105,684,420...105,815,606
JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,637,967...102,643,376
Ensembl chr13:102,637,769...102,643,223
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631
JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,808,254...102,942,863
Ensembl chr13:102,808,253...102,942,863
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,250,576...103,250,658
Ensembl chr13:103,250,576...103,250,658
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,693,679...102,724,120
Ensembl chr13:102,698,546...102,721,218
JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,724,266...102,755,511
Ensembl chr13:102,724,348...102,756,174
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,780,885...102,790,621
Ensembl chr13:102,780,877...102,790,639
JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,155,824...105,178,907
Ensembl chr13:105,155,441...105,179,095
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,489,121...105,684,293
Ensembl chr13:105,489,074...105,684,374
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
ClinVar Annotator: match by OMIM:614816
OMIM
ClinVar
PMID:22772368, PMID:22772371, PMID:23102774, PMID:24465802, PMID:25046559, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:27782106, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386, PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:1631557, PMID:2618446, PMID:7737999, PMID:12529708, PMID:15639475, PMID:22943793, PMID:23824657, PMID:23861362, PMID:24238504, PMID:24798638, PMID:25136781, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28166282, PMID:28240702, PMID:28425089, PMID:28492532, PMID:29247119, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5
ClinVar Annotator: match by term: Rienhoff syndrome
OMIM
ClinVar
PMID:7737999, PMID:23824657, PMID:24798638, PMID:25136781, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28425089, PMID:28492532, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12821554, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16027248, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16885183, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17418587, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18827873, PMID:18852674, PMID:19006214, PMID:19159394, PMID:19542084, PMID:19875893, PMID:19996017, PMID:20829218, PMID:20956634, PMID:21098638, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22488992, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24220024, PMID:24793577, PMID:24941995, PMID:24983314, PMID:25116393, PMID:25203624, PMID:25326637, PMID:25637381, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27100340, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28225382, PMID:28492532, PMID:28659821, PMID:29543232, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757, PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:27662471, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
Lujan Fryns Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Lujan Fryns syndrome
DNA:missense mutation:cds:p.N1007S(human)
ClinVar Annotator: match by OMIM:309520
OMIM
ClinVar
PMID:6711603, PMID:17334363, PMID:17369503, PMID:18691967, PMID:19938245, PMID:20981778, PMID:23395478, PMID:24039113, PMID:24077912, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28492532, PMID:17369503 RGD:12910949 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MARFAN LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: Marfan lipodystrophy syndrome
ClinVar
OMIM
PMID:2005308, PMID:4750422, PMID:7802039, PMID:7870075, PMID:8653794, PMID:8723076, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9837823, PMID:10464652, PMID:10533071, PMID:10633129, PMID:10930463, PMID:11068200, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12203987, PMID:12203992, PMID:12446365, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19353630, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20375004, PMID:20564469, PMID:20979188, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21883168, PMID:21895641, PMID:21907952, PMID:22772377, PMID:23506379, PMID:23577066, PMID:23608731, PMID:23719250, PMID:23794388, PMID:24033266, PMID:24039054, PMID:24161884, PMID:24613577, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25326635, PMID:25504618, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25907466, PMID:25944730, PMID:26272055, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26787436, PMID:27087445, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28973303, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31163209, PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Marfan Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation ClinVar PMID:28492532, PMID:32006683 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive ClinVar PMID:4750422, PMID:12938084, PMID:15161917, PMID:16342915, PMID:16571647, PMID:16677079, PMID:17568394, PMID:17701892, PMID:19839986, PMID:23278365, PMID:24033266, PMID:24793577, PMID:25741868, PMID:26272055, PMID:26787436, PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Marfanoid Hypermobility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1
ClinVar Annotator: match by term: Marfanoid hypermobility syndrome
ClinVar PMID:952872, PMID:1301946, PMID:1569206, PMID:1729284, PMID:1765782, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7738200, PMID:7762551, PMID:7802039, PMID:7870075, PMID:7896820, PMID:7911051, PMID:8004112, PMID:8040326, PMID:8071963, PMID:8136837, PMID:8281141, PMID:8406497, PMID:8430317, PMID:8504310, PMID:8541880, PMID:8563763, PMID:8653794, PMID:8723076, PMID:8791520, PMID:8880577, PMID:8882780, PMID:8894692, PMID:8941093, PMID:8988160, PMID:9101298, PMID:9150726, PMID:9241263, PMID:9338581, PMID:9338588, PMID:9362480, PMID:9399842, PMID:9401003, PMID:9452085, PMID:9525872, PMID:9817919, PMID:9837823, PMID:9876915, PMID:10189222, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10633129, PMID:10647894, PMID:10679954, PMID:10694921, PMID:10721679, PMID:10756346, PMID:10766875, PMID:10874320, PMID:10930463, PMID:11059536, PMID:11068200, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11175294, PMID:11278305, PMID:11391655, PMID:11524736, PMID:11700157, PMID:11722462, PMID:11748851, PMID:11826022, PMID:11829507, PMID:11875032, PMID:11933199, PMID:11967553, PMID:11992479, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15598221, PMID:15733436, PMID:15821637, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16571647, PMID:16596670, PMID:16677079, PMID:16756980, PMID:16765689, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17224687, PMID:17242066, PMID:17253931, PMID:17324963, PMID:17418587, PMID:17449467, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:17726045, PMID:17850668, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19002209, PMID:19012347, PMID:19059503, PMID:19089573, PMID:19117906, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19353630, PMID:19370756, PMID:19390640, PMID:19396033, PMID:19533785, PMID:19561590, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19780835, PMID:19802897, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20979188, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21784848, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22005308, PMID:22140025, PMID:22262941, PMID:22539873, PMID:22736615, PMID:22772377, PMID:22950452, PMID:23133647, PMID:23278365, PMID:23505274, PMID:23506379, PMID:23577066, PMID:23590259, PMID:23608731, PMID:23653584, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23794388, PMID:23897642, PMID:24033266, PMID:24035709, PMID:24039054, PMID:24055113, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24311428, PMID:24564502, PMID:24635535, PMID:24665001, PMID:24740214, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25203624, PMID:25320358, PMID:25326635, PMID:25504618, PMID:25519456, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25736269, PMID:25741868, PMID:25812041, PMID:25834947, PMID:25839328, PMID:25852444, PMID:25863307, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26017485, PMID:26026792, PMID:26133393, PMID:26188975, PMID:26214305, PMID:26269718, PMID:26272055, PMID:26332594, PMID:26333736, PMID:26410935, PMID:26498160, PMID:26621581, PMID:26684006, PMID:26787436, PMID:26796135, PMID:26875674, PMID:27011056, PMID:27112580, PMID:27146836, PMID:27153395, PMID:27160103, PMID:27175573, PMID:27229674, PMID:27234404, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27647783, PMID:27724990, PMID:27906200, PMID:27914124, PMID:27930701, PMID:28027854, PMID:28050602, PMID:28087566, PMID:28098115, PMID:28117189, PMID:28254189, PMID:28301460, PMID:28387797, PMID:28492532, PMID:28497567, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28855619, PMID:28941062, PMID:28973303, PMID:29168297, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29768367, PMID:29848614, PMID:29907982, PMID:30255099, PMID:30311386, PMID:30653986, PMID:30675029, PMID:30739908, PMID:31008308, PMID:31098894, PMID:31163209, PMID:31211626, PMID:31227806 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:16596670, PMID:16791849, PMID:16928994, PMID:18781618, PMID:21267002, PMID:22414221, PMID:23884466, PMID:25521989, PMID:25741868, PMID:25944730, PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:8246946, PMID:9395234, PMID:9590282, PMID:9771922, PMID:11212236, PMID:12825850, PMID:16249459, PMID:16251899, PMID:16791849, PMID:16799921, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17344846, PMID:17345643, PMID:17470566, PMID:17935258, PMID:18781618, PMID:19006214, PMID:19875893, PMID:21251594, PMID:21524434, PMID:24033266, PMID:24055113, PMID:24793577, PMID:24941995, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27930701, PMID:28492532, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Begain brain-enriched guanylate kinase-associated ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:132,936,964...132,972,569
Ensembl chr 6:132,936,970...132,972,511
JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,415,044...10,450,589
Ensembl chr17:10,415,123...10,439,691
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:19344873, PMID:24999027, PMID:25560765, PMID:25741868, PMID:26539891, PMID:27479907, PMID:28135719, PMID:28807008, PMID:29021403, PMID:29222009, PMID:30702837 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:196,487,656...196,495,930
Ensembl chr 2:196,487,656...196,496,986
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868, PMID:30397230 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868, PMID:28288114 NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
JBrowse link
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:115,823,541...115,836,846
Ensembl chr 2:115,823,538...115,836,846
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:176,940,424...176,983,076
Ensembl chr 1:176,940,693...176,983,045
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868, PMID:29460436 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,639,064...9,644,090
Ensembl chr17:9,639,330...9,644,090
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:49,733,835...50,056,115
Ensembl chr 8:49,737,798...50,055,560
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,369,153...10,391,667 JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:156,899,892...156,906,566
Ensembl chr 3:156,901,077...156,905,892
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,485,650...10,527,886
Ensembl chr17:10,485,642...10,527,864
JBrowse link
G Fam193b family with sequence similarity 193, member B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,595,742...9,628,414
Ensembl chr17:9,595,761...9,628,413
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:20,645,956...20,652,890
Ensembl chr16:20,645,957...20,652,889
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Glt8d2 glycosyltransferase 8 domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:27,146,382...27,196,689
Ensembl chr 7:27,174,882...27,192,882
JBrowse link
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,411,129...10,415,023
Ensembl chr17:10,411,273...10,414,016
JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,705,917...9,721,921
Ensembl chr17:9,703,453...9,721,574
JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:100,554,574...100,624,707
Ensembl chr 9:100,554,563...100,624,638
JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,134,726...10,152,976
Ensembl chr17:10,137,974...10,152,956
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mettl11b methyltransferase like 11B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:81,987,877...82,027,781
Ensembl chr13:81,988,926...82,006,005
JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:44,726,716...44,787,013
Ensembl chr 2:44,717,781...44,786,963
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452
JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868, PMID:30388402 NCBI chr 5:100,436,343...100,647,962
Ensembl chr 5:100,439,082...100,647,727
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:7981714, PMID:8268925, PMID:8533759, PMID:8830172, PMID:8981952, PMID:9012412, PMID:9298832, PMID:9399896, PMID:9429153, PMID:9634518, PMID:10234516, PMID:10394930, PMID:10598814, PMID:10693064, PMID:11385716, PMID:12655553, PMID:14722928, PMID:16198137, PMID:17096675, PMID:17924342, PMID:17935162, PMID:18294361, PMID:18299955, PMID:21147011, PMID:21307867, PMID:22698810, PMID:23357515, PMID:23500595, PMID:23792259, PMID:23932990, PMID:24350308, PMID:24368688, PMID:25087612, PMID:25333069, PMID:25741868, PMID:26467025, PMID:26542770, PMID:26600521, PMID:26666653, PMID:27121329, PMID:27243974, PMID:27620137, PMID:28492532 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,653,510...9,668,715
Ensembl chr17:9,653,561...9,668,712
JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,746,485...9,747,012
Ensembl chr17:9,746,485...9,747,012
JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:49,535,122...49,624,291
Ensembl chr19:49,535,792...49,623,758
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303
JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,693,274...9,702,795
Ensembl chr17:9,694,168...9,695,292
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452
JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:154,910,291...154,983,021
Ensembl chr 3:154,905,141...154,983,021
JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:37,734,662...37,795,360
Ensembl chr19:37,734,599...37,796,089
JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,777,925...9,792,007
Ensembl chr17:9,777,842...9,792,007
JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,458,036...10,472,410
Ensembl chr17:10,458,110...10,472,447
JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:2,181,135...2,277,949
Ensembl chr 9:2,190,915...2,274,629
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:61,320,480...61,416,560
Ensembl chr11:61,321,459...61,417,842
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Spag9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:81,693,736...81,827,562
Ensembl chr10:81,693,770...81,827,562
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,560,735...9,565,249
Ensembl chr17:9,560,761...9,565,249
JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:218,419,182...218,448,902
Ensembl chr 1:218,419,184...218,448,877
JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,356,980...10,364,614
Ensembl chr17:10,356,936...10,364,570
JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,061,915...10,130,921
Ensembl chr17:10,065,947...10,130,907
JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,152,949...10,208,599
Ensembl chr17:10,153,994...10,208,360
JBrowse link
G Wscd2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:48,814,840...48,861,823
Ensembl chr12:48,817,320...48,857,724
JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
JBrowse link
G Zbtb20 zinc finger and BTB domain containing 20 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:62,014,925...62,561,113
Ensembl chr11:62,014,925...62,451,184
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:10,021,596...10,061,803
Ensembl chr17:10,021,420...10,061,772
JBrowse link
Shprintzen-Goldberg Craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:15883926, PMID:23427148, PMID:24072599 NCBI chr20:32,191,731...32,211,295
Ensembl chr20:32,191,734...32,211,453
JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:182212
OMIM
ClinVar
CTD
PMID:12419246, PMID:12857746, PMID:15884042, PMID:19112531, PMID:23023332, PMID:23103230, PMID:24033266, PMID:24357594, PMID:24736733, PMID:25326635, PMID:25741868, PMID:27146836, PMID:28492532, PMID:30311386 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Marfan syndrome 209
        Cutis Laxa-Marfanoid Syndrome 0
        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
        Loeys-Dietz syndrome + 33
        Lujan Fryns Syndrome 1
        Marfan Lipodystrophy Syndrome 1
        Marfan Syndrome Type 2 0
        Marfan Syndrome, Autosomal Recessive 2
        Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
        Marfanoid Habitus with Situs Inversus 0
        Marfanoid Hypermobility Syndrome 8
        Marfanoid Mental Retardation Syndrome, Autosomal 96
        Shprintzen-Goldberg Craniosynostosis 54
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Marfan syndrome 209
                Cutis Laxa-Marfanoid Syndrome 0
                INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
                Loeys-Dietz syndrome + 33
                Lujan Fryns Syndrome 1
                Marfan Lipodystrophy Syndrome 1
                Marfan Syndrome Type 2 0
                Marfan Syndrome, Autosomal Recessive 2
                Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
                Marfanoid Habitus with Situs Inversus 0
                Marfanoid Hypermobility Syndrome 8
                Marfanoid Mental Retardation Syndrome, Autosomal 96
                Shprintzen-Goldberg Craniosynostosis 54
paths to the root

NHLBI Logo

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