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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: OMIM:154700
 xref: GARD:6975;   ICD10CM:Q87.4;   ICD10CM:Q87.40;   ICD9CM:759.82;   NCI:C34807
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Marfan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CEP152 centrosomal protein 152 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28991257 PMID:31829210 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G CTXN2 cortexin 2 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr15:48,178,438...48,203,758
Ensembl chr15:48,178,122...48,203,758 		JBrowse link
G DUT deoxyuridine triphosphatase IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373 		JBrowse link
G FBN1 fibrillin 1 severity
treatment		 IAGP
ISS
EXP
ISO		 DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan's syndrome
ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome
OMIM:154700
ClinVar Annotator: match by term: Marfan syndrome, incomplete
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Marfan syndrome, mild variable
ClinVar Annotator: match by term: Marfan syndrome, severe classic
DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.D2485V (c.7454A>T) (human)
DNA:missense mutation, nonsense mutation:exon:p.C271X (c.813C>A), p.C637Y (c.1910G>A) (human)
DNA:missense mutation, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations:exon, intron:multiple
DNA:splice-site mutations:intron:multiple
DNA:missense mutations:exon:p.C1182W (3546C>G), p.C2232Y (6695G>A), p.C2577R (7729T>C) (human)
DNA:missense mutation:exon:p.C596G (c.1786T>G) (human)
DNA:missense mutation:exon:p.S1235P (c.3703T>C) (human)
DNA:missense mutation:exon:p.C790S (c.2368T>A) (human)
DNA:missense mutation, nonsense mutations: :p.C2663S (c.8121G>C), p.Q136X (c.719C>T), p.Q1366X (c.4229 T>C) (human)
DNA:deletion, nonsense mutation, splice-site mutation:exon, intron:p.G835_L838del (c.2502_2513delTGAAAGTACTTT), p.R1596X, c.989-1G>C (human)
DNA:missense mutation:exon:p.C1008R (c.3022T>C) (human)
DNA:deletion, insertion:exon:multiple
DNA:deletion, missense mutations:exon:multiple
DNA:missense mutation:exon:p.S322C (965C>G) (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:370588 PMID:627879 PMID:845663 PMID:948948 PMID:952872 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 chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN1-DT FBN1 divergent transcript IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 NCBI chr15:48,645,805...48,652,260
Ensembl chr15:48,645,951...48,652,016 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:3495735 PMID:4750422 PMID:16677079 PMID:18767143 PMID:25741868 More... NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G LAMC1 laminin subunit gamma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:183,023,420...183,145,592
Ensembl chr 1:183,023,420...183,145,592 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan's syndrome		 ClinVar PMID:1936929 PMID:9362480 PMID:9536098 PMID:10486319 PMID:10612827 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC125078076 Sharpr-MPRA regulatory region 3576 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:1936929 PMID:16571647 PMID:16905551 PMID:17492313 PMID:17701892 More... NCBI chr15:48,507,472...48,507,766 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome		 ClinVar PMID:1936929 PMID:3495735 PMID:4750422 PMID:9399842 PMID:9536098 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC126862125 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48821930-48823129 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:1936929 PMID:16571647 PMID:16905551 PMID:17492313 PMID:17657824 More... NCBI chr15:48,529,733...48,530,932 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar NCBI chr 9:99,104,641...99,105,240 JBrowse link
G LOC130057018 ATAC-STARR-seq lymphoblastoid active region 9375 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:1936929 PMID:17492313 PMID:17657824 PMID:19293843 PMID:19839986 More... NCBI chr15:48,596,079...48,596,248 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:1936929 PMID:10085138 PMID:12068374 PMID:16222657 PMID:16835936 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 NCBI chr15:48,644,834...48,644,963 JBrowse link
G LOC130057021 ATAC-STARR-seq lymphoblastoid silent region 6419 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 NCBI chr15:48,645,374...48,645,553 JBrowse link
G LOC130057022 ATAC-STARR-seq lymphoblastoid silent region 6420 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 NCBI chr15:48,645,594...48,645,673 JBrowse link
G LOC130057023 ATAC-STARR-seq lymphoblastoid active region 9377 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:17492313 NCBI chr15:48,794,833...48,795,112 JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MMP12 matrix metallopeptidase 12 IEP associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP14 matrix metallopeptidase 14 IEP associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO
IEP
EXP		 associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18178469 PMID:18178469 PMID:16820601 RGD:13204796, RGD:1582351 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18178469 PMID:18178469 RGD:13204796 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:154700 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G MYEF2 myelin expression factor 2 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr15:48,134,632...48,178,295
Ensembl chr15:48,134,632...48,178,353 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G SEMA6D semaphorin 6D IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:25741868 NCBI chr15:47,184,089...47,774,228
Ensembl chr15:47,184,101...47,774,228 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:21063442 More... NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672 		JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Marfan syndrome ClinVar PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:18781618 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 susceptibility IAGP
EXP		 DNA:point mutation, missense mutations: :multiple
ClinVar Annotator: match by term: Marfan syndrome
ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:11212236 More... RGD:1579928 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) RGD PMID:16820601 RGD:1582351 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
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:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr15:67,066,039...67,066,198 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G SMAD3 SMAD family member 3 IAGP
EXP		 ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFB2 transforming growth factor beta 2 EXP
IAGP
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		 CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996 		JBrowse link
G TGFB3 transforming growth factor beta 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Loeys-Dietz syndrome
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
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP
ISS
EXP		 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
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 1
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 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP 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 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		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 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
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 PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:10612827 PMID:12938084 PMID:16222657 PMID:17253931 PMID:17657824 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC130008520 ATAC-STARR-seq lymphoblastoid silent region 4752 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:28492532 NCBI chr12:98,516,080...98,516,349 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:17657824 PMID:19293843 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP
EXP		 ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMPO thymopoietin IAGP 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 PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		JBrowse link
G TMPO-AS1 TMPO antisense RNA 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:28492532 NCBI chr12:98,512,973...98,516,226
Ensembl chr12:98,512,973...98,516,422 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057352 ATAC-STARR-seq lymphoblastoid silent region 6574 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C		 ClinVar PMID:20851114 PMID:24033266 PMID:24711937 PMID:25741868 PMID:26221609 More... NCBI chr15:67,066,039...67,066,198 JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
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 chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		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 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,668,013...222,712,491
Ensembl chr 1:222,668,013...222,713,210 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,057,482...220,089,788
Ensembl chr 1:220,057,482...220,090,462 		JBrowse link
G BROX BRO1 domain and CAAX motif containing IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,712,564...222,735,187
Ensembl chr 1:222,712,553...222,735,196 		JBrowse link
G C1orf115 chromosome 1 open reading frame 115 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DUSP10 dual specificity phosphatase 10 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ESRRG estrogen related receptor gamma IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755 		JBrowse link
G FAM177B family with sequence similarity 177 member B IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,737,202...222,751,004
Ensembl chr 1:222,737,202...222,751,004 		JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090 		JBrowse link
G HHIPL2 HHIP like 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,522,264...222,548,104
Ensembl chr 1:222,522,258...222,548,104 		JBrowse link
G HLX H2.0 like homeobox IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,879,443...220,885,059
Ensembl chr 1:220,879,431...220,885,059 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:215,005,542...215,237,090
Ensembl chr 1:215,005,775...215,237,090 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807 		JBrowse link
G LOC130056139 ATAC-STARR-seq lymphoblastoid silent region 5952 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr14:75,960,377...75,960,426 JBrowse link
G LYPLAL1 lysophospholipase like 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:219,173,878...219,445,496
Ensembl chr 1:219,173,869...219,212,865 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,528,136...220,664,461
Ensembl chr 1:220,528,136...220,664,461 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G MIR194-1 microRNA 194-1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,118,157...220,118,241
Ensembl chr 1:220,118,157...220,118,241 		JBrowse link
G MIR215 microRNA 215 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,786,913...220,819,659
Ensembl chr 1:220,786,352...220,819,659 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,748,322...220,784,815
Ensembl chr 1:220,748,225...220,784,815 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:218,285,293...218,337,983
Ensembl chr 1:218,285,293...218,337,983 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SPATA17 spermatogenesis associated 17 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:217,631,344...217,871,696
Ensembl chr 1:217,631,324...217,871,696 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar
OMIM		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar NCBI chr 1:218,344,196...218,345,678
Ensembl chr 1:218,344,190...218,346,036 		JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:25741868 NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130056139 ATAC-STARR-seq lymphoblastoid silent region 5952 IAGP ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr14:75,960,377...75,960,426 JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Rienhoff syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome		 ClinVar
OMIM		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		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 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 | ClinVar Annotator: match by term: SMAD2-related condition OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		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 IAGP
EXP		 ClinVar Annotator: match by term: Marfan lipodystrophy syndrome
ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome
ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:627879 PMID:948948 PMID:2005308 PMID:2254511 PMID:3212331 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Marfan lipodystrophy syndrome
ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME		 ClinVar PMID:10612827 PMID:17657824 PMID:19293843 PMID:19863550 PMID:25741868 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME ClinVar PMID:25741868 PMID:27906200 PMID:27930701 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
Marfan Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Marfan like connective tissue disorder ClinVar PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Marfan like connective tissue disorder
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 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Marfan like connective tissue disorder
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 chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		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 IAGP ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation ClinVar PMID:22489068 PMID:28492532 PMID:32006683 PMID:35998264 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive ClinVar PMID:9477945 PMID:16342915 PMID:17568394 PMID:19293843 PMID:19839986 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 PMID:28991257 PMID:31829210 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:627879 PMID:845663 PMID:948948 PMID:952872 PMID:960337 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:9362480 PMID:9536098 PMID:10612827 PMID:11700157 PMID:12938084 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:9399842 PMID:9536098 PMID:10486319 PMID:11175294 PMID:11524736 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:16222657 PMID:16835936 PMID:19839986 PMID:24033266 PMID:24941995 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar NCBI chr15:48,644,834...48,644,963 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:18781618 More... NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:11212236 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		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 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545 		JBrowse link
G ANO7 anoctamin 7 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:241,188,677...241,240,308
Ensembl chr 2:241,188,509...241,225,976 		JBrowse link
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G ATP1A1-AS1 ATP1A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:116,392,865...116,418,622
Ensembl chr 1:116,378,437...116,421,301 		JBrowse link
G ATXN2L ataxin 2 like IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:28,822,999...28,837,232
Ensembl chr16:28,822,999...28,837,237 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BEGAIN brain enriched guanylate kinase associated IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:100,537,147...100,587,417
Ensembl chr14:100,537,147...100,587,417 		JBrowse link
G CDH5 cadherin 5 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784 		JBrowse link
G CDHR2 cadherin related family member 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,542,511...176,595,974
Ensembl chr 5:176,542,511...176,595,974 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 More... NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CERS2 ceramide synthase 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:150,965,186...150,974,835
Ensembl chr 1:150,960,583...150,975,003 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30397230 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CIC capicua transcriptional repressor IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28288114 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CLDN11 claudin 11 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DBN1 drebrin 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,456,610...177,473,634
Ensembl chr 5:177,456,608...177,474,401 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:11,963,036...12,009,745
Ensembl chr11:11,956,207...12,009,769 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:29460436 PMID:33597769 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836 		JBrowse link
G DOK3 docking protein 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,501,904...177,511,100
Ensembl chr 5:177,501,904...177,511,274 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:117,427,772...117,817,514
Ensembl chr11:117,427,772...117,817,525 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:32277047 PMID:36250449 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,630,675...176,646,644
Ensembl chr 5:176,630,618...176,646,644 		JBrowse link
G EMILIN3 elastin microfibril interfacer 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:41,359,962...41,366,818
Ensembl chr20:41,359,962...41,366,818 		JBrowse link
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G FAF2 Fas associated factor family member 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,448,385...176,510,074
Ensembl chr 5:176,447,628...176,510,074 		JBrowse link
G FAM193B family with sequence similarity 193 member B IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,519,788...177,554,563
Ensembl chr 5:177,519,789...177,554,586 		JBrowse link
G FAM83H family with sequence similarity 83 member H IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXO11 F-box protein 11 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30057029 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:18,531,763...18,543,573
Ensembl chr19:18,531,751...18,544,077 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GLT8D2 glycosyltransferase 8 domain containing 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:103,988,987...104,064,437
Ensembl chr12:103,988,987...104,064,183 		JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,595,802...176,610,156
Ensembl chr 5:176,595,802...176,610,156 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,425,523...177,442,891
Ensembl chr 5:177,403,204...177,442,901 		JBrowse link
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061 		JBrowse link
G HK3 hexokinase 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,880,869...176,899,346
Ensembl chr 5:176,880,869...176,899,346 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G LMAN2 lectin, mannose binding 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,331,567...177,351,668
Ensembl chr 5:177,315,805...177,351,840 		JBrowse link
G LOC112543469 Sharpr-MPRA regulatory region 11651 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:18,538,139...18,538,433 JBrowse link
G LOC126862479 MED14-independent group 3 enhancer GRCh37_chr17:7099412-7100611 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:29460436 PMID:33597769 NCBI chr17:7,196,093...7,197,292 JBrowse link
G MED13L mediator complex subunit 13L IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MTREX Mtr4 exosome RNA helicase IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:55,307,989...55,425,579
Ensembl chr 5:55,307,989...55,425,579 		JBrowse link
G MXD3 MAX dimerization protein 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,305,499...177,312,752
Ensembl chr 5:177,301,461...177,312,757 		JBrowse link
G NEU3 neuraminidase 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:74,980,515...75,020,676
Ensembl chr11:74,988,279...75,018,893 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NFIB nuclear factor I B IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30388402 NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983 		JBrowse link
G NFIX nuclear factor I X IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NKAP NFKB activating protein IAGP DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:32277047 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:170,145,959...170,168,866
Ensembl chr 1:170,145,959...170,168,866 		JBrowse link
G NUP205 nucleoporin 205 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757 		JBrowse link
G PAH phenylalanine hydroxylase IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:7981714 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 More... NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,483,394...177,497,604
Ensembl chr 5:177,483,394...177,497,606 		JBrowse link
G PFN3 profilin 3 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,400,109...177,400,661
Ensembl chr 5:177,400,109...177,400,661 		JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882 		JBrowse link
G PKD1L2 polycystin 1 like 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:81,100,875...81,220,394
Ensembl chr16:81,100,875...81,220,370 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G PRELID1 PRELI domain containing 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,303,799...177,306,949
Ensembl chr 5:177,303,799...177,306,949 		JBrowse link
G PRR7 proline rich 7, synaptic IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,445,995...177,456,286
Ensembl chr 5:177,446,445...177,456,286 		JBrowse link
G RAB24 RAB24, member RAS oncogene family IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,301,198...177,303,719
Ensembl chr 5:177,301,198...177,303,744 		JBrowse link
G RALGAPB Ral GTPase activating protein non-catalytic subunit beta IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:38,472,843...38,578,858
Ensembl chr20:38,472,816...38,578,859 		JBrowse link
G RANBP10 RAN binding protein 10 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:67,723,070...67,806,560
Ensembl chr16:67,723,070...67,806,560 		JBrowse link
G RGS14 regulator of G protein signaling 14 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,357,924...177,372,596
Ensembl chr 5:177,357,924...177,372,596 		JBrowse link
G RNF44 ring finger protein 44 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,526,712...176,543,513
Ensembl chr 5:176,526,712...176,538,025 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SIDT1 SID1 transmembrane family member 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:113,532,555...113,637,111
Ensembl chr 3:113,532,555...113,629,575 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SNCB synuclein beta IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556 		JBrowse link
G SPAG9 sperm associated antigen 9 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:50,962,174...51,120,868
Ensembl chr17:50,962,174...51,120,868 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:29419869 PMID:30334930 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G SYNGAP1-AS1 SYNGAP1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,437,363...33,454,453 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:26637982 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517 		JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,592,203...177,597,242
Ensembl chr 5:177,592,203...177,597,242 		JBrowse link
G TPCN2 two pore segment channel 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316 		JBrowse link
G TSPAN17 tetraspanin 17 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,647,484...176,659,051
Ensembl chr 5:176,647,387...176,659,054 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,905,005...177,022,602
Ensembl chr 5:176,905,005...177,022,633 		JBrowse link
G UNC5A unc-5 netrin receptor A IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:176,810,559...176,880,898
Ensembl chr 5:176,810,519...176,880,898 		JBrowse link
G WSCD2 WSC domain containing 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:108,129,288...108,250,537
Ensembl chr12:108,129,288...108,250,537 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF346 zinc finger protein 346 IAGP ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:177,022,696...177,081,189
Ensembl chr 5:177,022,696...177,081,189 		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 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G KIFBP kinesin family binding protein IAGP ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G LOC112577524 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:2186989-2188188 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,255,550...2,256,749 JBrowse link
G LOC121967049 Sharpr-MPRA regulatory region 2016 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,270,450...2,270,744 JBrowse link
G LOC126805579 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2211723-2212922 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,280,284...2,281,483 JBrowse link
G LOC129929177 ATAC-STARR-seq lymphoblastoid active region 49 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,234,325...2,234,464 JBrowse link
G LOC129929178 ATAC-STARR-seq lymphoblastoid active region 50 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,234,565...2,234,744 JBrowse link
G LOC129929179 ATAC-STARR-seq lymphoblastoid active region 51 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,259,259...2,259,308 JBrowse link
G LOC129929180 ATAC-STARR-seq lymphoblastoid active region 52 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,291,463...2,291,512 JBrowse link
G LOC129929181 ATAC-STARR-seq lymphoblastoid active region 53 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,301,159...2,301,218 JBrowse link
G LOC130003959 ATAC-STARR-seq lymphoblastoid active region 3474 IAGP ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:68,988,595...68,988,974 JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP
EXP		 ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		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 LOC126863275 BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 IAGP ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:71,122,550...71,123,749 JBrowse link
G MED12 mediator complex subunit 12 IAGP
EXP		 DNA:missense mutation:cds:p.N1007S(human)
ClinVar Annotator: match by term: Lujan Syndrome
ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome
ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome
ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... RGD:12910949 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      Marfan syndrome 260
        Cutis Laxa-Marfanoid Syndrome 0
        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
        Loeys-Dietz syndrome + 55
        Marfan Lipodystrophy Syndrome 4
        Marfan Syndrome Type 2 3
        Marfan Syndrome, Autosomal Recessive 2
        Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
        Marfanoid Habitus with Situs Inversus 0
        Marfanoid Hypermobility Syndrome 14
        Marfanoid Mental Retardation Syndrome, Autosomal 101
        Shprintzen-Goldberg Craniosynostosis 70
        syndromic X-linked intellectual disorder Lujan-Fryns-type 2
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      musculoskeletal system disease 11817
        connective tissue disease 7576
          bone disease 5734
            bone development disease 3279
              Marfan syndrome 260
                Cutis Laxa-Marfanoid Syndrome 0
                INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
                Loeys-Dietz syndrome + 55
                Marfan Lipodystrophy Syndrome 4
                Marfan Syndrome Type 2 3
                Marfan Syndrome, Autosomal Recessive 2
                Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
                Marfanoid Habitus with Situs Inversus 0
                Marfanoid Hypermobility Syndrome 14
                Marfanoid Mental Retardation Syndrome, Autosomal 101
                Shprintzen-Goldberg Craniosynostosis 70
                syndromic X-linked intellectual disorder Lujan-Fryns-type 2
paths to the root