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.
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Amfr
autocrine motility factor receptor
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr19:11,473,538...11,509,500
Ensembl chr19:11,473,541...11,508,102
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Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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Asxl3
ASXL transcriptional regulator 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Atxn2l
ataxin 2-like
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
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B3glct
beta 3-glucosyltransferase
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
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B4galt7
beta-1,4-galactosyltransferase 7
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
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Bcl11a
BAF chromatin remodeling complex subunit BCL11A
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
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Begain
brain-enriched guanylate kinase-associated
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 6:132,936,964...132,972,569
Ensembl chr 6:132,936,970...132,972,511
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Cdh5
cadherin 5
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
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Cdhr2
cadherin-related family member 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,415,044...10,450,589
Ensembl chr17:10,415,123...10,439,691
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Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868 PMID:27479907 PMID:28135719 PMID:28807008 PMID:29021403 PMID:29222009 PMID:30702837
NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
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Cers2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 2:196,487,656...196,495,930
Ensembl chr 2:196,487,656...196,496,986
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Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868 PMID:30397230
NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
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Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868 PMID:28288114
NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
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Cit
citron rho-interacting serine/threonine kinase
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
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Cldn11
claudin 11
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 2:115,823,541...115,836,846
Ensembl chr 2:115,823,538...115,836,846
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
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Col6a3
collagen type VI alpha 3 chain
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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Dbn1
drebrin 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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Ddx41
DEAD-box helicase 41
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
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Dkk3
dickkopf WNT signaling pathway inhibitor 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 1:176,940,424...176,983,076
Ensembl chr 1:176,940,693...176,983,045
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868 PMID:29460436
NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
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Dok3
docking protein 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,639,064...9,644,090
Ensembl chr17:9,639,330...9,644,090
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Dscaml1
DS cell adhesion molecule-like 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 8:49,733,835...50,056,115
Ensembl chr 8:49,737,798...50,055,560
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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Eif4e1b
eukaryotic translation initiation factor 4E family member 1B
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,369,153...10,391,667
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Emilin3
elastin microfibril interfacer 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:156,899,892...156,906,566
Ensembl chr 3:156,901,077...156,905,892
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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Faf2
Fas associated factor family member 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,485,650...10,527,886
Ensembl chr17:10,485,642...10,527,864
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Fam193b
family with sequence similarity 193, member B
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,595,742...9,628,414
Ensembl chr17:9,595,761...9,628,413
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Fam83h
family with sequence similarity 83, member H
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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Fbxo11
F-box protein 11
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682
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Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
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Fkbp8
FKBP prolyl isomerase 8
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr16:20,645,956...20,652,890
Ensembl chr16:20,645,957...20,652,889
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Glt8d2
glycosyltransferase 8 domain containing 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 7:27,146,382...27,196,689
Ensembl chr 7:27,174,882...27,192,882
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Gprin1
G protein-regulated inducer of neurite outgrowth 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,411,129...10,415,023
Ensembl chr17:10,411,273...10,414,016
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Grk6
G protein-coupled receptor kinase 6
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,705,917...9,721,921
Ensembl chr17:9,703,453...9,721,574
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Hdlbp
high density lipoprotein binding protein
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 9:100,554,574...100,624,707
Ensembl chr 9:100,554,563...100,624,638
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Hk3
hexokinase 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,134,726...10,152,976
Ensembl chr17:10,137,974...10,152,956
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Kcnb1
potassium voltage-gated channel subfamily B member 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
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Lman2
lectin, mannose-binding 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
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Mettl11b
methyltransferase like 11B
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr13:81,987,877...82,027,781
Ensembl chr13:81,988,926...82,006,005
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Mtrex
Mtr4 exosome RNA helicase
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 2:44,726,716...44,787,013
Ensembl chr 2:44,717,781...44,786,963
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Mxd3
Max dimerization protein 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452
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Neu3
neuraminidase 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
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Nf2
neurofibromin 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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Nfib
nuclear factor I/B
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868 PMID:30388402
NCBI chr 5:100,436,343...100,647,962
Ensembl chr 5:100,439,082...100,647,727
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Nfix
nuclear factor I X
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
G
Nsd1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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Nup205
nucleoporin 205
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:7981714 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 PMID:9012412 PMID:9298832 PMID:9399896 PMID:9429153 PMID:9634518 PMID:10234516 PMID:10394930 PMID:10598814 PMID:10693064 PMID:11385716 PMID:12655553 PMID:14722928 PMID:16198137 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:21147011 PMID:21307867 PMID:22698810 PMID:23357515 PMID:23500595 PMID:23792259 PMID:23932990 PMID:24350308 PMID:24368688 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26542770 PMID:26600521 PMID:26666653 PMID:27121329 PMID:27243974 PMID:27620137 PMID:28492532
NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
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Pdlim7
PDZ and LIM domain 7
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,653,510...9,668,715
Ensembl chr17:9,653,561...9,668,712
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Pfn3
profilin 3
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,746,485...9,747,012
Ensembl chr17:9,746,485...9,747,012
G
Picalm
phosphatidylinositol binding clathrin assembly protein
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
G
Pkd1l2
polycystin 1 like 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr19:49,535,122...49,624,291
Ensembl chr19:49,535,792...49,623,758
G
Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
G
Prelid1
PRELI domain containing 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303
G
Prr7
proline rich 7 (synaptic)
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,693,274...9,702,795
Ensembl chr17:9,694,168...9,695,292
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Rab24
RAB24, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452
G
Ralgapb
Ral GTPase activating protein non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:154,910,291...154,983,021
Ensembl chr 3:154,905,141...154,983,021
G
Ranbp10
RAN binding protein 10
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr19:37,734,662...37,795,360
Ensembl chr19:37,734,599...37,796,089
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Rgs14
regulator of G-protein signaling 14
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,777,925...9,792,007
Ensembl chr17:9,777,842...9,792,007
G
Rnf44
ring finger protein 44
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,458,036...10,472,410
Ensembl chr17:10,458,110...10,472,447
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Satb1
SATB homeobox 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 9:2,181,135...2,277,949
Ensembl chr 9:2,190,915...2,274,629
G
Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
G
Sidt1
SID1 transmembrane family, member 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr11:61,320,480...61,416,560
Ensembl chr11:61,321,459...61,417,842
G
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
G
Slc6a1
solute carrier family 6 member 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
G
Sncb
synuclein, beta
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
G
Spag9
sperm associated antigen 9
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr10:81,693,736...81,827,562
Ensembl chr10:81,693,770...81,827,562
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
G
Syngap1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
G
Taf1
TATA-box binding protein associated factor 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr X:71,412,291...71,486,456
Ensembl chr X:71,412,289...71,485,085
G
Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
G
Tbr1
T-box brain transcription factor 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
G
Tmed9
transmembrane p24 trafficking protein 9
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:9,560,735...9,565,249
Ensembl chr17:9,560,761...9,565,249
G
Tpcn2
two pore segment channel 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 1:218,419,182...218,448,902
Ensembl chr 1:218,419,184...218,448,877
G
Tspan17
tetraspanin 17
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,356,980...10,364,614
Ensembl chr17:10,356,936...10,364,570
G
Uimc1
ubiquitin interaction motif containing 1
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,061,915...10,130,921
Ensembl chr17:10,065,947...10,130,907
G
Unc5a
unc-5 netrin receptor A
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,152,949...10,208,599
Ensembl chr17:10,153,994...10,208,360
G
Wscd2
WSC domain containing 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr12:48,814,840...48,861,823
Ensembl chr12:48,817,320...48,857,724
G
Zbtb18
zinc finger and BTB domain containing 18
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
G
Zbtb20
zinc finger and BTB domain containing 20
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr11:62,014,925...62,561,113
Ensembl chr11:62,014,925...62,451,184
G
Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
G
Zfp346
zinc finger protein 346
ISO
ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability
ClinVar
PMID:25741868
NCBI chr17:10,021,596...10,061,803
Ensembl chr17:10,021,420...10,061,772
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