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Marfan syndrome - Ontology Report - Rat Genome Database

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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.

GViewer not supported for the selected species.

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 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		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 chr26:34,473,648...34,608,650
Ensembl chr26:34,473,757...34,546,842 		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 chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		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 chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:74,455,133...74,493,392 JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		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 chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:4,570,766...4,761,678
Ensembl chr17:4,674,162...4,761,924 		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 chr26:35,081,624...35,091,836
Ensembl chr26:35,081,943...35,082,185 		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 chr26:34,941,775...34,954,184
Ensembl chr26:34,940,702...34,953,166 		JBrowse link
G FBN1 fibrillin 1 treatment
severity		 ISO 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, 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
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		 OMIM
ClinVar
RGD		 PMID:370588 PMID:627879 PMID:795121 PMID:845663 PMID:948948 More... RGD:12910135 RGD:12910485 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		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 chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:28492532 NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G LAMC1 laminin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr25:46,233,409...46,354,060
Ensembl chr25:46,231,780...46,353,557 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar NCBI chr24:51,707,348...51,823,449
Ensembl chr24:51,708,479...51,823,347 		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 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		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:16820601 PMID:18178469 RGD:13204796 RGD:1582351 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18178469 RGD:13204796 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO OMIM:154700 MouseDO NCBI chr 1:8,410,571...8,411,793 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 chr26:35,107,127...35,145,344
Ensembl chr26:35,107,227...35,142,543 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17666408 PMID:22968129 PMID:25741868 PMID:25944730 PMID:28492532 More... NCBI chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		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 chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G SEMA6D semaphorin 6D ISO ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 NCBI chr26:35,511,593...36,095,816
Ensembl chr26:35,511,594...35,526,130 		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 chr26:34,974,947...35,077,241
Ensembl chr26:34,976,126...35,075,186 		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 chr26:35,143,004...35,164,134
Ensembl chr26:35,143,097...35,163,718 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		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 chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372 		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		 RGD
ClinVar		 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:10362519 More... RGD:1579928 NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		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
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:24055113 PMID:25637381 More... NCBI chr10:74,455,133...74,493,392 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 chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G LOC103226816 ATP-binding cassette sub-family A member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr 5:2,171,487...2,218,851 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 chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		JBrowse link
G SMAD3 SMAD family member 3 ISO 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		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO 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 ClinVar PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO 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		 ClinVar PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO 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		 ClinVar PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 Annotator: match by term: Loeys-Dietz syndrome type 2A ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372 		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 chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 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:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		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: 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:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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: 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 chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703 		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: ANEURYSMS-OSTEOARTHRITIS SYNDROME | 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 | ClinVar Annotator: match by term: SMAD3-related condition OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr26:16,760,117...16,841,286
Ensembl chr26:16,759,260...16,840,240 		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 chr25:6,858,138...6,900,064
Ensembl chr25:6,858,152...6,898,175 		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 chr25:9,489,479...9,518,936
Ensembl chr25:9,490,763...9,519,721 		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 chr25:6,835,448...6,858,097
Ensembl chr25:6,834,584...6,858,052 		JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:8,844,455...8,853,459 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 chr25:6,559,866...6,759,092
Ensembl chr25:6,559,862...6,575,625 		JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:7,790,969...7,833,485
Ensembl chr25:7,792,913...7,834,346 		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 chr25:9,534,747...9,618,119
Ensembl chr25:9,534,114...9,618,141 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:12,495,234...13,090,739
Ensembl chr25:12,866,321...13,090,733 		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 chr25:6,821,067...6,825,770
Ensembl chr25:6,821,873...6,825,383 		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 chr25:11,956,218...12,154,532 JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:7,024,388...7,051,587 JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:8,641,386...8,647,485
Ensembl chr25:8,641,752...8,646,563 		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 chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429 		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 chr25:14,341,147...14,570,982
Ensembl chr25:14,340,123...14,487,420 		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 chr25:13,951,569...14,008,370
Ensembl chr25:13,950,775...14,008,338 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:10,370,715...10,408,807
Ensembl chr25:10,370,814...10,408,767 		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 chr25:8,876,945...9,019,780
Ensembl chr25:8,879,201...9,019,598 		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 chr25:6,901,891...6,954,556
Ensembl chr25:6,902,425...6,954,526 		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 chr25:8,654,316...8,744,579
Ensembl chr25:8,717,436...8,743,652 		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 chr25:8,745,754...8,782,967
Ensembl chr25:8,748,605...8,782,379 		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 chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		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 chr25:11,273,756...11,318,280
Ensembl chr25:11,274,241...11,318,290 		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 chr25:9,654,846...9,671,247
Ensembl chr25:9,655,129...9,668,280 		JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:11,729,382...11,956,102
Ensembl chr25:11,728,433...11,955,926 		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 chr25:6,982,714...7,014,699
Ensembl chr25:6,982,784...7,014,877 		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 chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470 		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:25835445 PMID:28425089 PMID:28492532 NCBI chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		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 chr24:53,630,998...53,762,098 JBrowse link
G GPATCH2L G-patch domain containing 2 like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr24:53,401,799...53,453,023
Ensembl chr24:53,401,822...53,452,080 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr24:53,231,293...53,329,116
Ensembl chr24:53,231,300...53,329,109 		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 chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr24:52,905,106...53,199,160
Ensembl chr24:52,905,291...53,199,136 		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 chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		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:8199354 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		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:8199354 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703 		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 chr14:50,989,553...51,048,149
Ensembl chr14:50,989,795...51,048,708 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		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 chr10:74,455,133...74,493,392 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 chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		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 chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:17666408 PMID:22968129 PMID:25741868 PMID:25944730 PMID:28492532 More... NCBI chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464 		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 chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		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 chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372 		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:10362519 More... NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 chr 5:42,276,672...42,334,508
Ensembl chr 5:42,275,584...42,334,207 		JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:127,249,352...127,285,485
Ensembl chr10:127,249,970...127,285,409 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		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 chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		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 chr13:84,351,298...84,799,691 JBrowse link
G ASXL3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:46,988,038...47,160,193 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 chr20:17,319,440...17,351,054
Ensembl chr20:17,315,117...17,351,054 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:26,230,503...26,246,365
Ensembl chr 5:26,230,488...26,245,334 		JBrowse link
G B3GLCT beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:10,058,041...10,178,996
Ensembl chr 3:10,059,196...10,179,037 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,617,929...79,628,265
Ensembl chr23:79,617,963...79,628,377 		JBrowse link
G BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:46,453,102...46,553,802 JBrowse link
G BEGAIN brain enriched guanylate kinase associated ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr24:78,501,920...78,552,954
Ensembl chr24:78,501,870...78,511,496 		JBrowse link
G CDH5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:52,059,987...52,098,595
Ensembl chr 5:52,060,013...52,100,405 		JBrowse link
G CDHR2 cadherin related family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,571,170...78,602,699
Ensembl chr23:78,571,792...78,602,552 		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 chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868
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 chr16:7,274,634...7,300,831
Ensembl chr16:7,276,850...7,300,832 		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 chr29:21,856,434...21,924,761
Ensembl chr29:21,856,263...21,924,787 		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 6:36,472,991...36,500,479 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 chr11:115,026,809...115,220,558
Ensembl chr11:115,025,045...115,219,356 		JBrowse link
G CLDN11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:18,991,734...19,006,902
Ensembl chr15:18,991,042...19,006,866 		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 chr16:64,288,583...64,296,940
Ensembl chr16:64,289,828...64,296,922 		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 chr10:123,326,337...123,418,836
Ensembl chr10:123,327,102...123,400,114 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,468,010...79,484,603
Ensembl chr23:79,467,647...79,484,592 		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:38,513,251...38,539,982
Ensembl chr  Y:689,380...706,092 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,522,265...79,528,628
Ensembl chr23:79,522,479...79,527,570 		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 1:52,823,415...52,868,804
Ensembl chr 1:52,824,176...52,868,885 		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 chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867 		JBrowse link
G DOK3 docking protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,514,800...79,522,176
Ensembl chr23:79,515,025...79,520,557 		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 1:108,801,895...109,167,011
Ensembl chr 1:108,802,452...108,906,272 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		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 chr12:380,041...545,333
Ensembl chr12:379,943...497,033 		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 chr23:78,650,378...78,653,912
Ensembl chr23:78,650,330...78,653,524 		JBrowse link
G EMILIN3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:22,406,739...22,413,476
Ensembl chr 2:22,407,085...22,412,169 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298 		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 chr23:78,421,558...78,515,671
Ensembl chr23:78,456,545...78,516,245 		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 chr23:79,530,685...79,567,667
Ensembl chr23:79,530,172...79,559,701 		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 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30057029 PMID:39825153 NCBI chr14:59,276,380...59,375,635
Ensembl chr14:59,276,447...59,374,442 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:17,007,764...17,018,409
Ensembl chr 6:17,007,390...17,017,714 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GLT8D2 glycosyltransferase 8 domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:99,191,277...99,264,533
Ensembl chr11:99,188,883...99,250,384 		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 chr23:78,602,680...78,617,580
Ensembl chr23:78,603,690...78,606,710 		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 chr23:79,437,056...79,454,213
Ensembl chr23:79,437,078...79,453,113 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:127,289,390...127,378,895
Ensembl chr10:127,288,331...127,378,986 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,888,087...78,908,608
Ensembl chr23:78,888,291...78,906,995 		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 2:14,510,176...14,623,054
Ensembl chr 2:14,510,464...14,619,023 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,337,076...79,358,653
Ensembl chr23:79,336,997...79,358,421 		JBrowse link
G LOC103219433 nuclear factor 1 B-type ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30388402 PMID:39825153 NCBI chr12:65,043,819...65,487,832
Ensembl chr12:65,256,407...65,481,485 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:111,245,201...111,563,485
Ensembl chr11:111,243,753...111,563,663 		JBrowse link
G MTREX Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:51,543,976...51,667,458
Ensembl chr 4:51,544,211...51,667,254 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,317,049...79,323,811
Ensembl chr23:79,317,436...79,322,431 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:66,220,472...66,243,163 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 chr19:12,474,479...12,572,144
Ensembl chr19:12,474,468...12,572,250 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:11,705,323...11,778,943
Ensembl chr 6:11,706,060...11,776,083 		JBrowse link
G NKAP NFKB activating protein ISO DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252
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 chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820 		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 chr25:58,898,029...58,919,835
Ensembl chr25:58,898,262...58,919,292 		JBrowse link
G NUP205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr21:104,231,877...104,325,002 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 chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,494,695...79,508,950
Ensembl chr23:79,493,927...79,508,714 		JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,412,093...79,412,840
Ensembl chr23:79,412,147...79,412,560 		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 1:77,214,391...77,325,626
Ensembl chr 1:77,213,836...77,324,875 		JBrowse link
G PKD1L2 polycystin-1-like protein 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:66,555,686...66,662,670
Ensembl chr 5:66,555,938...66,661,802 		JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,313,442...79,316,788 JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,458,347...79,467,421
Ensembl chr23:79,466,186...79,467,257 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,311,135...79,313,414
Ensembl chr23:79,310,704...79,312,994 		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 2:25,177,380...25,285,938
Ensembl chr 2:25,176,956...25,307,991 		JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:59,631,308...59,711,098 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 chr23:79,370,320...79,385,355
Ensembl chr23:79,370,087...79,387,192 		JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,533,012...78,544,252
Ensembl chr23:78,531,305...78,538,504 		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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SIDT1 SID1 transmembrane family member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr22:67,232,377...67,324,862
Ensembl chr22:67,230,564...67,324,784 		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 chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:39825153 NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,626,876...78,637,337
Ensembl chr23:78,627,479...78,636,287 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:42,224,565...42,384,160
Ensembl chr16:42,224,697...42,384,749 		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 6:973,033...996,857
Ensembl chr 6:974,144...995,136 		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 chr17:38,612,777...38,646,382
Ensembl chr17:38,617,679...38,646,192 		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:61,167,743...61,269,000
Ensembl chr  X:61,167,589...61,268,839 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:6,500,157...6,510,777
Ensembl chr11:6,499,614...6,515,027 		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 chr10:46,819,396...46,831,590
Ensembl chr10:46,819,393...46,828,008 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,609,832...79,613,960
Ensembl chr23:79,609,826...79,614,084 		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 1:5,491,476...5,529,015
Ensembl chr 1:5,490,910...5,528,718 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,654,954...78,667,299
Ensembl chr23:78,655,055...78,667,462 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,912,434...79,010,695
Ensembl chr23:78,911,234...79,010,264 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:78,819,521...78,888,116
Ensembl chr23:78,871,865...78,890,665 		JBrowse link
G WSCD2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:103,312,914...103,441,294
Ensembl chr11:103,382,420...103,439,518 		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 chr25:81,077,011...81,085,049 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 chr22:65,715,470...66,528,195
Ensembl chr22:66,511,237...66,524,064 		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 2:397,663...487,145
Ensembl chr 2:398,268...483,923 		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 chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr23:79,010,203...79,072,063
Ensembl chr23:79,027,548...79,070,705 		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 chr20:130,143,085...130,157,716
Ensembl chr20:130,143,520...130,157,730 		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 chr20:128,660,029...128,665,485
Ensembl chr20:128,660,121...128,661,254 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,383,226...130,416,926
Ensembl chr20:130,383,220...130,416,933 		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 chr20:130,036,072...130,042,036
Ensembl chr20:130,036,658...130,038,604 		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 chr20:128,204,517...128,229,866 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 chr20:129,965,964...129,987,866 JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,074,660...130,076,355
Ensembl chr20:130,075,295...130,076,765 		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 chr20:130,210,828...130,212,732
Ensembl chr20:130,211,718...130,212,707 		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 chr20:130,195,746...130,204,338
Ensembl chr20:130,198,005...130,202,441 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:127,905,251...127,927,086
Ensembl chr20:127,905,375...127,926,913 		JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:127,823,789...127,866,172
Ensembl chr20:127,828,995...127,865,544 		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 chr20:129,555,060...129,626,465 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 chr20:130,124,705...130,128,745
Ensembl chr20:130,125,790...130,126,711 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,325,767...130,357,331 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 chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139 		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 chr20:129,357,043...129,373,409
Ensembl chr20:129,357,089...129,362,518 		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
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 chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		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 chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		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 chr20:129,023,750...129,028,790
Ensembl chr20:129,027,370...129,028,065 		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 chr20:130,128,828...130,139,580
Ensembl chr20:130,128,828...130,142,330 		JBrowse link
G KIFBP kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr 9:62,305,387...62,336,165
Ensembl chr 9:62,305,368...62,336,103 		JBrowse link
G LOC103225737 multiple epidermal growth factor-like domains protein 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,075,329...128,195,618 JBrowse link
G LOC103225750 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,916,051...128,963,545
Ensembl chr20:128,921,369...128,963,188 		JBrowse link
G LOC103225783 cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,848,297...129,873,287 JBrowse link
G LOC103225792 ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,997,941...130,008,356 JBrowse link
G LOC103225798 cyclin-L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,049,590...130,065,241
Ensembl chr20:130,049,646...130,065,881 		JBrowse link
G LOC103225805 taste receptor type 1 member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,119,451...130,122,920
Ensembl chr20:130,119,804...130,122,903 		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 chr20:127,881,446...127,896,138
Ensembl chr20:127,881,473...127,895,959 		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 chr20:129,878,014...129,893,239
Ensembl chr20:129,877,142...129,884,894 		JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,873,838...129,876,521
Ensembl chr20:129,873,867...129,876,524 		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 chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604 		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 chr20:130,042,502...130,047,019 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 chr20:130,092,280...130,102,819
Ensembl chr20:130,096,289...130,104,551 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,770,575...129,800,914
Ensembl chr20:129,769,822...129,803,817 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr24:52,297,211...52,342,359
Ensembl chr24:52,296,261...52,342,724 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636 		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 chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968 		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 chr20:129,053,571...129,127,238 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 chr20:128,249,894...128,613,842 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 chr20:129,367,309...129,502,681
Ensembl chr20:129,365,679...129,485,818 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,964,750...128,969,469
Ensembl chr20:128,964,987...128,967,620 		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 chr20:130,139,479...130,142,819
Ensembl chr20:130,139,480...130,142,342 		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 chr20:129,155,902...129,169,648
Ensembl chr20:129,156,067...129,169,597 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,359,448...130,365,430
Ensembl chr20:130,364,349...130,365,098 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,158,282...130,169,479 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 chr20:130,212,962...130,228,831
Ensembl chr20:130,216,225...130,228,962 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome OMIM
ClinVar		 PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr20:129,243,033...129,324,162
Ensembl chr20:129,242,445...129,324,138 		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 chr20:129,808,281...129,843,006
Ensembl chr20:129,824,956...129,846,114 		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 chr20:127,900,506...127,904,242
Ensembl chr20:127,900,976...127,903,371 		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 chr20:129,922,992...129,958,551
Ensembl chr20:129,923,091...129,958,712 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		JBrowse link
G TMEM278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,028,526...130,031,739
Ensembl chr20:130,026,134...130,030,985 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316
G TNFRSF14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,992,572...128,999,829
Ensembl chr20:128,992,489...129,000,338 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251 		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 chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		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 chr20:128,057,629...128,062,545
Ensembl chr20:128,059,137...128,062,455 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,247,309...130,270,452 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 chr20:130,174,207...130,192,723
Ensembl chr20:130,174,223...130,195,150 		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 chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		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 chr20:128,037,727...128,056,981
Ensembl chr20:128,037,821...128,056,770 		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 OMIM
ClinVar		 PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... NCBI chr  X:60,915,796...60,939,220
Ensembl chr  X:60,915,703...60,937,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    syndrome 10489
      Marfan syndrome 232
        Cutis Laxa-Marfanoid Syndrome 0
        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
        Loeys-Dietz syndrome + 46
        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 15417
    disease of anatomical entity 15080
      musculoskeletal system disease 7844
        connective tissue disease 5367
          bone disease 3875
            bone development disease 2328
              Marfan syndrome 232
                Cutis Laxa-Marfanoid Syndrome 0
                INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
                Loeys-Dietz syndrome + 46
                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