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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Marfan syndrome
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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: MIM: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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan syndrome, atypical		 ClinVar PMID:1978725 PMID:2985635 PMID:9399846 PMID:9923651 PMID:15172002 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28991257 PMID:31829210 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Fbn1 fibrillin 1 severity
treatment		 ISO
ISS		 DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
OMIM:154700
ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
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)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:370588 PMID:627879 PMID:795121 PMID:845663 PMID:948948 More... 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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:3495735 PMID:4750422 PMID:16677079 PMID:18767143 PMID:25741868 More... NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		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
RGD		 PMID:18178469 PMID:16820601 PMID:18178469 RGD:1582351, RGD:13204796 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18178469 PMID:18178469 RGD:13204796 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:154700 MouseDO NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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:16799921 PMID:16928994 PMID:18781618 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		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 | ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:11212236 More... RGD:1579928 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		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 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2 OMIM
ClinVar		 PMID:25741868 PMID:26358559 PMID:30544257 PMID:31587868 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:28492532 PMID:33110422 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
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 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		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 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar
MouseDO		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:10025408 PMID:15731757 PMID:16596670 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | 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 OMIM
ClinVar		 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | 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:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		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 WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		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 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503 		JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227 		JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397 		JBrowse link
G Fam177b family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,904,128...94,909,688 JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173 		JBrowse link
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,362,810...96,397,284 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 PMID:28544325 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25741868 PMID:25835445 PMID:28425089 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791 		JBrowse link
G Gpatch2l G patch domain containing 2-like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:105,883,383...105,935,644
Ensembl chr 6:105,883,460...105,934,888 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		JBrowse link
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:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
Loeys-Dietz syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		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:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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:24448499 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		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-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:2005308 PMID:2254511 PMID:3212331 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Marfan Syndrome Type 2 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: Marfan Syndrome type 2 | ClinVar Annotator: match by term: Marfan like connective tissue disorder ClinVar PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Marfan Syndrome type 2 | ClinVar Annotator: match by term: Marfan like connective tissue disorder ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		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:22489068 PMID:28492532 PMID:32006683 PMID:35998264 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive ClinVar PMID:9477945 PMID:16342915 PMID:17568394 PMID:19293843 PMID:19839986 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 PMID:28991257 PMID:31829210 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		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:16799921 PMID:16928994 PMID:18781618 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		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 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:36135330 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25533962 PMID:25741868 PMID:28726809 PMID:32277047 PMID:33768696 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427 		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 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686 		JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		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 6:127,943,651...127,979,876
Ensembl chr 6:127,943,651...127,979,841 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575 		JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 More... NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314 		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 chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		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 chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285 		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 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		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 chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050 		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 chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720 		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 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984 		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:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415 		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 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		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 PMID:33597769 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188 		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 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:32277047 PMID:36250449 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		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 chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137 		JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:149,558,785...149,564,785
Ensembl chr 3:149,558,970...149,564,785 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		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 chr17:9,947,211...9,989,474
Ensembl chr17:9,947,220...9,989,485 		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 chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508 		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 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30057029 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612 		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 chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		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 7:21,029,534...21,081,081
Ensembl chr 7:21,029,525...21,081,080 		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 chr17:9,863,881...9,876,832
Ensembl chr17:9,863,571...9,876,915 		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 chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644 		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 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863 		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 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473 		JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		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 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
G Nkap NFKB activating protein ISO DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		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 PMID:28492532 PMID:32277047 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:76,050,683...76,093,972
Ensembl chr13:76,053,127...76,093,972 		JBrowse link
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844 		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 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,217,595...9,218,122 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 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407 		JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553 		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 3:147,062,443...147,152,090
Ensembl chr 3:147,062,364...147,152,090 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033 		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 chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193 		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 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:56,362,788...56,459,939
Ensembl chr11:56,363,512...56,459,050 		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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		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 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Spag9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:78,943,439...79,077,797
Ensembl chr10:78,943,479...79,077,797 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:29419869 PMID:30334930 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		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 chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		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 PMID:26637982 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:158,021,454...158,028,905 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 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176 		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 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526 		JBrowse link
G Wscd2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:43,046,547...43,141,115
Ensembl chr12:43,048,043...43,088,591 		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 chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		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 chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210 		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 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782 		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 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635 		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:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,579,327...164,584,650 JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643 		JBrowse link
syndromic X-linked intellectual disorder Lujan-Fryns-type 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 Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, with marfanoid habitus | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1007S(human)		 OMIM
ClinVar
CTD
RGD		 PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... RGD:12910949 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Marfan syndrome 233
        Cutis Laxa-Marfanoid Syndrome 0
        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
        Loeys-Dietz syndrome + 47
        Marfan Lipodystrophy Syndrome 1
        Marfan Syndrome Type 2 2
        Marfan Syndrome, Autosomal Recessive 2
        Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
        Marfanoid Habitus with Situs Inversus 0
        Marfanoid Hypermobility Syndrome 9
        Marfanoid Mental Retardation Syndrome, Autosomal 97
        Shprintzen-Goldberg Craniosynostosis 64
        syndromic X-linked intellectual disorder Lujan-Fryns-type 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              Marfan syndrome 233
                Cutis Laxa-Marfanoid Syndrome 0
                INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
                Loeys-Dietz syndrome + 47
                Marfan Lipodystrophy Syndrome 1
                Marfan Syndrome Type 2 2
                Marfan Syndrome, Autosomal Recessive 2
                Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
                Marfanoid Habitus with Situs Inversus 0
                Marfanoid Hypermobility Syndrome 9
                Marfanoid Mental Retardation Syndrome, Autosomal 97
                Shprintzen-Goldberg Craniosynostosis 64
                syndromic X-linked intellectual disorder Lujan-Fryns-type 1
paths to the root